[N-actyltransferase2 polymorphism in recurrence of colorectal polyps and adenomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE

[patients with the NAT2 fast acetylator genotype were more prone to colorectal cancer and reflected the possibility that exposure to heterocyclic amines may contribute to colorectal cancer development in Taiwan, especially in Taiwanese females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Risk of colorectal cancer decreased with the NAT2 slow phenotype, and the use of white meat or its drippings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 gene polymorphism in patients with colorectal carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT1 and NAT2 genotypes may contribute jointly to individual susceptibility and that heterocyclic aromatic amines may play an important role in colorectal cancer associated with red meat and possibly also exposure to environmental tobacco smoke]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The combination of NAT2 rapid plus other genotypes is associated with susceptibility to colorectal cancer in Japanese never-smokers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We report the novel associations between P450 genotype and CRA risk, and highlight the risk association with GSTM1 genotype, common to our CRA and cancer case-control series. In addition, we report a novel modifying influence of GSTP1 genotype on dietary]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Risks for colorectal cancer are significantly associated with the genetic polymorphisms of GSTT1 deletion, NAT2-rapid acetylator phenotype and genotye and NAT2-rapid acetylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphisms in both N-acetyltransferase genes, NAT1 and NAT2, have been associated with an increased risk of colorectal tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[There is a possible relationship between the NAT2 polymorphisms and colorectal cancer in Hebei Han Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These data do not support the hypothesis that the NAT2 acetylatorship acts as a modifying factor on the age of onset in sporadic and familial, microsatellite stable colorectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our findings, which require independent confirmation, suggest that the NAT2 genotype constitutes a secondary risk factor to develop sigmoid colon cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Only NAT2*14A fast type was associated with increased risk in patients with colorectal carcinoma (OR = 3.03; 95% CI, 1.56-5.86), when a high protein diet was considered, NAT2*7A/B fast genotype was also found to be associated with an increased risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study did not demonstrate an association between NAT2 polymorphisms and inflammatory bowel diseases or sporadic colorectal cancer]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our interest is in the polymorphisms within the NAT1 and NAT2 genes that influence the tobacco-colorectal tumor relationship by impacting on the metabolic activation and detoxification of tobacco smoke-derived carcinogens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Gene-smoking interaction on colorectal adenoma and cancer risk: review and meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Differences at the genetic level revealed distinct disease functions and operational pathways in African Americans and Caucasians in spontaneous preterm birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A pilot study investigating the role of NAT1 and NAT2 polymorphisms in gastric adenocarcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Review article]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphism of N-acetyltransferase-2, glutathione S-transferase-M1, and cytochromes P450IIE1 and P450IID6 in the susceptibility to head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In conclusion, NAT2 polymorphism might be a low-penetrant risk factor for HNC among Asians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results suggest that NAT1 and NAT2 gene combinations may influence the risk of developing head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 rs1565684 T>C SNP might play a slight role in ESCC etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association between genetic polymorphisms of glutathione S-transferase P1 and N-acetyltransferase 2 and susceptibility to squamous-cell carcinoma of the esophagus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphisms of p53 and GSTP1,but not NAT2,are associated with susceptibility to squamous-cell carcinoma of the esophagus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Collectively, these results indicated that phenotypic differences in NAT2 alone or in combination with CYP1A2 might help explain the higher incidence rates of transitional cell bladder cancer in whites.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To minimize exposure to this toxic metabolite, this first-in-human study was conducted in patients with advanced refractory solid tumors or lymphomas demonstrated to have a slow NAT2 acetylator genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results suggest that functional polymorphisms in NAT2 and GSTP1 are associated with OOSCC survival.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphism of N-acetyltransferase 2 in the susceptibility to laryngeal squamous cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results reported in this study suggest that NAT2 polymorphism is a genetic susceptibility factor involved in the carcinogenesis of cervical cancer, and also that the analysis of the allelic profile of populations in different geographic locations may help to understand the incidence of cervical cancer worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that NAT2*5A gene polymorphisms in patients may be associated with genetic susceptibility to cervical cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Maternal smoking and oral clefts: the role of detoxification pathway genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To investigate the frequency and distribution of N-acetyltransferase 2 (NAT2) and uridine 5'-diphosphate (UDP)-glucuronosyltransferase 1A7 (UGT1A7) genes in patients with ulcerative colitis (UC) and Crohn's disease (CD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 gene is one of the determinants for Crohn disease in Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[However, apparent interactions were found for intake of meat and HCAs with AhR, NAT1, and NAT2 genotypes, and the interactions were statistically significant for the group with both adenomatous and hyperplastic polyps.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Colorectal adenomatous and hyperplastic polyps: smoking and N-acetyltransferase 2 polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We found evidence for interaction between NAT acetylator status and SULT1A1 genotype in risk of hyperplastic polyps: individuals with SULT1A1 638AA genotype and NAT1 and NAT2 intermediate/fast phenotypes had 3.5-fold increased risk (95% CI 1.2-10.3) compared with individuals with SULT1A1 638GG genotype and NAT1 and NAT2 slow phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 gene polymorphism and presbycusis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Antioxidant enzymes, presbycusis, and ethnic variability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We conducted a case-control study, including 209 incident cases with hepatocellular carcinoma (HCC) and two different control groups [275 hospital controls and 381 patients with chronic liver disease (CLD) without HCC], to investigate whether CYP1A1, CYP1A2, CYP2A6, CYP2E1, GSTM1 and NAT2 polymorphisms are related to the risk of HCC with any interaction with cigarette smoking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-Acetyltransferase 2 gene polymorphism in a group of senile dementia patients in Shanghai suburb.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Variant genotypes of NAT2 might serve as a hereditary risk factor for AD and VD in Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The smokers with slow acetylation genotype of N-acetyltransferase 2 may be the population with high risk for hepatocellular carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that NAT2 polymorphisms do not exert a strong effect on individual susceptibility to MM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Combination of NAT2 fast acetylator and GSTM1 null genotype posed a significantly increased risk of MM in the Italian, but not in the Finnish study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Individuals who lacked the GSTM1 gene and possessed a NAT2 slow-acetylator genotype had a risk of developing malignant and nonmalignant pulmonary disorders that was approximately fivefold greater than that observed for those who had the GSTM1 gene and a NAT2 fast-acetylator genotype (OR = 5.1; 95% CI = 1.6-17.6); these individuals had a fourfold increased risk of developing nonmalignant pulmonary disorders (OR = 4.1; 95% CI = 1.1-17.2) and an eightfold increased risk of developing malignant mesothelioma (OR = 7.8; 95% CI = 1.4-78.7) when compared with the same reference group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

Gene-disease associations manually curated.
DisGeNET evidence - CURATED

[Inherited GSTM1 and NAT2 defects as concurrent risk modifiers in asbestos-related human malignant mesothelioma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphism of NAT2 is associated with the risk of atopic dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 polymorphism does not differ between patients suffering from atopic dermatitis and healthy subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphism of arylamine-N-acetyltransferase 2 gene is associated with the risk of atopic dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To test the hypothesis that genetic variations in carcinogen metabolism modify the risk of pancreatic cancer (PC), we investigated the effect of single-nucleotide polymorphisms (SNPs) of the CYP1A2, NAT1, NAT2 and SULT1A1 gene on modification of the risk of PC in a hospital-based study of 755 patients with pancreatic adenocarcinoma and 636 healthy frequency-matched controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found i]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The NAT2*6A/any slow acetylation genotype may be a predisposing factor for pancreatic cancer among diabetics with smoking exposure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The presentations focused on the pharmacogenetics of the NAT1 and NAT2 arylamine N-acetyltransferases, including developmental regulation, structure-function relationships, and their possible role in susceptibility to breast, colon, and pancreatic cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow genotype were associated with increased risk of pancreatic cancer among heavy smokers and among individuals with a history of diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We identified a robust association between NAT2 and SF in people with and without diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[However, the NAT2*7A/B gene polymorphism carried no increased risk for developing DM disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Gene-environment interactions in renal cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2*6A slow acetylator was found to be a significant risk factor for diabetes mellitus (OR = 6.09; 95%CI: 1.99-18.6, p = 0.02)/slow acetylator genotypes may be an important genetic determinant for DM in the Turkish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphic arylamine N-acetyltransferase (NAT2) genes in children with insulin-dependent diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphic liver arylamine N-acetyltransferase (NAT2; EC 2.3.1.5) has been suggested as a susceptibility factor for both insulin-dependent diabetes mellitus (IDDM) and non-insulin-dependent diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may no]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations at the genes CYP2D6 and NAT2 were analysed by allele-specific polymerase chain reaction and restriction mapping in DNA from 94 subjects with prostate cancer and 160 male healthy control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The present study demonstrates the association of PCA and MnSOD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Well-done meat consumption, NAT1 and NAT2 acetylator genotypes and prostate cancer risk: the multiethnic cohort study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[There was no association between PCa and either 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx), 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) intake, or NAT1 and NAT2 genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Xenobiotic metabolizing gene variants, dietary heterocyclic amine intake, and risk of prostate cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results indicate a role of NAT2 polymorphisms in the carcinogenic pathway of prostate cancer, specifically in a population of Southern Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These data demonstrate that the NAT2 slow acetylator genotype plays an important role in determining the risk of developing prostate cancer in Japanese men and is also associated with more clinically advanced and pathologically aggressive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 polymorphisms, tobacco smoking, and breast cancer risk in the breast and prostate cancer cohort consortium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Rapid NAT2 genotype correlated significantly with the development of double prostate-bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Epidemiological studies suggest that the NAT1 and NAT2 acetylation polymorphisms modify risk of developing urinary bladder, colorectal, breast, head and neck, lung, and possibly prostate cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The data suggests that the NAT2 rapid acetylator genotypes may play an important role in determining the risk of developing prostate cancer particularly in the tobacco users of north Indian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results of this small pilot study suggest increased susceptibility to prostate cancer for subjects with combinations of NAT1*10 and slow (particularly very slow) NAT2 acetylator genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of prostate cancer with rapid N-acetyltransferase 1 (NAT1*10) in combination with slow N-acetyltransferase 2 acetylator genotypes in a pilot case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We examined the correlation between chronic alcoholic pancreatitis and variants of the phase II detoxification enzymes such as Glutathione S-transferase M1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), NADPH-quinone oxidoreductase 1 (NQO1), and N-acetyl transferase (NAT2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our study was designed to elucidate whether the NAT2 gene polymorphism would be a marker for diabetic nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Relationship between acetylation polymorphism and risk of atopic diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Associations among genetic susceptibility, DNA damage, and pregnancy outcomes of expectant mothers exposed to environmental tobacco smoke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Chromosomal aberrations in railroad transit workers: effect of genetic polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Synergistic effects of NAT2 slow and GSTM1 null genotypes on carcinogen DNA damage in the lung.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To determine whether polymorphisms in the sulfonamide detoxification genes, CYB5A (encoding cytochrome b(5)), CYB5R3 (encoding cytochrome b(5) reductase), or NAT2 (encoding N-acetyltransferase 2) were over-represented in patients with delayed sulfonamide drug hypersensitivity, compared with control patients who tolerated a therapeutic course of trimethoprim-sulfamethoxazole without adverse event.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Slow acetylator phenotype and genotype in HIV-positive patients with sulphamethoxazole hypersensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic and ethnic risk factors associated with drug hypersensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A genome-wide association study of metabolic traits in human urine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association analysis of N-acetyl transferase-2 polymorphisms with aspirin intolerance among asthmatics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The analysis of NAT2 polymorphism does not seem to be useful in predicting the risk of PD with dementia or AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The role of NAT2 gene polymorphism in aetiology of the most frequent neurodegenerative diseases with dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results suggest that NAT2 activity may be particularly critical in smoking related hepatocarcinogenesis among chronic HBV carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Allele frequencies for glutathione S-transferase and N-acetyltransferase 2 differ in African population groups and may be associated with oesophageal cancer or tuberculosis incidence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 polymorphisms and risk of esophageal cancer in a Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results suggest that the ADH1C allele modifies the carcinogenic dose response for alcohol in the upper aerodigestive tract, giving rise to a gene-environment interaction. The role of genes as possible modifiers of life-style risks seems the most relia]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that NAT2 acetylator genotypes did not influence the susceptibility to esophageal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk of oesophageal cancer upon exposure to environmental carcinogens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These variants could therefore be associated with high cancer susceptibility. In addition, the high proportion of NAT2 fast alleles may partially explain the high tuberculosis prevalence in South Africans, due to reduced isoniazid efficacy in the presen]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that N-acetylation polymorphism may be implicated as a genetic trait affecting an individual's susceptibility and biological behavior of esophageal squamous cell cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphism of N-acetyltransferase 2 in patients with esophageal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Role of the N-acetyltransferase 2 detoxification system in thyroid cancer susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Kaplan-Meier analyses showed N-acteyltransferase-2 (NAT2) fast acetylators experienced a 19.7% higher 5-year survival rate than slow acetylators (P=0.03) and this association was similar in oropharyngeal and oral cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Possible association of NAT2 polymorphism with laryngeal cancer risk: an evidence-based meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings suggest that NAT2 genotype may be an important factor in tumorigenesis of CRC and cancers related to hereditary nonpolyposis CRC among individuals with mismatch repair defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[However, because almost all BZ-related metabolites measured in the urine of exposed workers were acetylated among slow, as well as rapid, acetylators (mean +/- SD 95 +/- 1.9% vs. 97 +/- 1.6%, respectively) and NAT2 activity did not affect the levels of any DNA adduct measured, it is unlikely that interindividual variation in NAT2 function is relevant for BZ-associated bladder carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Acetylation catalyzed by NAT2 is an important process in metabolic activation of arylamines to electrophilic intermediates that initiate carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[As NAT2 activity is known to modify risk of arylamine-induced carcinogenesis, our results suggest that exposure to arylamines in the environment may play a role in risk of lung cancer among non-smokers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The influence of NAT2 genotype on this association supports a role for heterocyclic amines in mediating the effect of red meat on colorectal carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Since individuals with modified ability to metabolize these carcinogens could have a different risk for breast cancer, we investigated the role of cytochromes P-450 (CYP1A1, CYP2D6), glutathione-S-transferases (GSTM1, GSTT1, GSTP1) and N-acetyltransferases (NAT1, NAT2) gene variants in breast carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Joint effects of the N-acetyltransferase 1 and 2 (NAT1 and NAT2) genes and smoking on bladder carcinogenesis: a literature-based systematic HuGE review and evidence synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Large, multiethnic populations and analysis of combinations of genes for carcinogen metabolism may be needed to further assess the role of NAT2 in colorectal tumorigenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To determine which of the N-acetyltransferase (NAT) alleles [monomorphic (NAT1) or polymorphic (NAT2)] are expressed in the target cells for arylamine carcinogenesis, namely normal human uroepithelial cells, cDNA was prepared from cellular RNA and amplified by polymerase chain reaction (PCR), using upstream primer 1 comprising the 5' end (nt 47-68) and either downstream primers 2 (nt 908-889) or 3 (nt 953-931) corresponding with the 3' end.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To investigate the role of NAT1 and NAT2 variants as risk-modifying factors in leukemogenesis, we conducted a case-control study on 176 ALL patients and 306 healthy controls of French-Canadian origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These data suggest that altered NAT 2 enzyme activity may be a predisposition factor in endometriosis, or that NAT 2 alleles may be in linkage disequilibrium with a susceptibility allele in the same chromosomal region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Although a relation of risk may be definitely discarded for systemic lupus erythematosus (SLE), inflammatory bowel disease and endometriosis, more research is needed for rheumatoid arthritis, Parkinson's, Alzheimer's, Beh�et's and periodontal diseases , as current results are inconclusive but suggest a possible relation with NAT2 polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A polymorphic homologue of human NAT2 was characterized in the rhesus macaque, to facilitate investigations of the postulated involvement of this isoenzyme in the toxicogenetics of endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The case-control data from this study suggest there is no association between endometriosis and NAT2 in South Indian women; however, two new variant genotypes and seven SNP combinations were also identified in cases only, which suggests that the gene may still have some as yet undetermined role in the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cases with invasive epithelial ovarian cancer (N?=?1571 including 956 of serous sub-type) and controls (N?=?2046) from three studies were genotyped at 11 SNPs in EPHX1, ADH4, ADH1A, NQO2, NAT2, GSTP1, CYP1A1, and NQO1, following an initial SNP screen in a subset of participants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Implication of Xenobiotic Metabolizing Enzyme gene (CYP2E1, CYP2C19, CYP2D6, mEH and NAT2) polymorphisms in breast carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 genotype modification of active cigarette smoking on breast cancer risk among hispanic and non-hispanic white women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study examined the possible effect of cytochrome P450 (CYP1A1), glutathione S-transferase (GSTM1 and T1) and N-acetyltransferases 2 (NAT2) polymorphisms on DNA-protein crosslinks (DPC) formation in the white blood cells of breast cancer patients, and assessed the levels of DPC detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Breast cancer and active and passive smoking: the role of the N-acetyltransferase 2 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase (NAT1, NAT2) and glutathione S-transferase (GSTM1, GSTT1) polymorphisms in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Active cigarette smoking and the risk of breast cancer at the level of N-acetyltransferase 2 (NAT2) gene polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings do not support a role for HAAs from meat or NAT2 in the etiology of breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphisms of NAT1 and NAT2 may be also a breast-cancer susceptibility factor among postmenopausal women with a high intake of well-done meat.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results suggest that the CYP1B1 polymorphism may be an important modifier of breast cancer risk in Finnish Caucasian women who have been exposed to tobacco smoke and/or carry the NAT2 slow acetylator genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A meta-analysis of the association of N-acetyltransferase 2 gene (NAT2) variants with breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Breast cancer risk, meat consumption and N-acetyltransferase (NAT2) genetic polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Smoking (active and passive), N-acetyltransferase 2, and risk of breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Neither N-acetyltransferase 1 (NAT1) nor N-acetyltransferase 2 (NAT2) genotype alone was associated with increased breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cigarette smoking, N-acetyltransferase 2 genotypes, and breast cancer risk: pooled analysis and meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Aromatic DNA adducts and polymorphisms of CYP1A1, NAT2, and GSTM1 in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association between N-acetyltransferase 2 (NAT2) genetic polymorphism and development of breast cancer in post-menopausal Chinese women in Taiwan, an area of great increase in breast cancer incidence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In combination with NAT2 fast acetylator status, however, the SULT1A1*1/*1 genotype might increase breast cancer risk in women exposed to tobacco smoke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Women with the GSTT1 null genotype were found to have a significant 3.15-fold increased risk of breast cancer (95% CI = 1.7-5.8), while GSTM1 and NAT2 genotypes were not associated with breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[No effect of the NAT1, NAT2 or GSTM1 genotypes on breast cancer risk was observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Flame-broiled food, NAT2 acetylator phenotype, and breast cancer risk among women with benign breast disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow acetylator genotype as an important modifier of breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Tobacco smoking, NAT2 acetylation genotype and breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Breast cancer-specific mortality was significantly increased in smokers with NAT2 slow acetylating status (HR 1.77, 95% CI 1.13-2.79) but not in those with fast acetylating status (HR 1.09, 95% CI 0.60-1.98; Pheterogeneity=0.19).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The aim of this study was to determine the existence of association between the genetic polymorphisms of metabolizing genes GSTM-1, GSTT-1, and NAT-2, and the presence of mitochondrial genome instability (mtGI) in breast cancer cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A case-only analysis of the interaction between N-acetyltransferase 2 haplotypes and tobacco smoke in breast cancer etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Differential effect of NAT2 on the association between active and passive smoke exposure and breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphisms of CYP2E1, GST, and NAT2 enzymes are not associated with risk of breast cancer in a sample of Lebanese women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Common polymorphisms in the N-acetyltransferase 2 gene (NAT2) modify the association between cigarette smoking and bladder cancer and have been hypothesized to determine whether active cigarette smoking increases breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 polymorphisms combining with smoking associated with breast cancer susceptibility: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-Acetyltransferase-2 genetic polymorphism, well-done meat intake, and breast cancer risk among postmenopausal women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Three meta-analyses report 35% to 50% increases in breast cancer risk for long-term smokers with N-acetyltransferase 2 gene (NAT2) slow acetylation genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cigarette smoking, N-acetyltransferase 2 genetic polymorphisms, and breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A prospective study of NAT2 acetylation genotype, cigarette smoking, and risk of breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

['Comparison of extremes' approach provides evidence against the modifying role of NAT2 polymorphism in lung cancer susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Glutathione S-transferase mu1 and N-acetyltransferase 2 genetic polymorphisms and exposure to tobacco smoke in nonsmoking and smoking lung cancer patients and population controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow acetylator genotype is associated with increased risk of lung cancer among non-smoking Chinese women in Singapore.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In conclusion, NAT2 rapid acetylator genotypes are protective against lung cancer in nonsmokers but are risk factors in heavy smokers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated the independent and combined effects of the metabolic gene polymorphisms of NAT2 and GSTs on DNA adduct formation in different tissues (lung and blood) in lung cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 fast acetylator genotypes are associated with an increased risk for lung cancer with wildtype epidermal growth factor receptors in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 polymorphism and lung cancer risk: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 fast acetylator genotype is associated with an increased risk of lung cancer among never-smoking women in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Homozygous rapid arylamine N-acetyltransferase (NAT2) genotype as a susceptibility factor for lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The aim of this study was to evaluate the contribution of CYP1A1*2A, CYP1A1*2C, CYP2D6*4, GSTP1, GSTM1, GSTT1 and NAT2 polymorphisms for the susceptibility to LC in a Portuguese population considering their demographic and clinical characteristics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Impact of interaction of polymorphic forms of p53 codon 72 and N-acetylation gene (NAT2) on the risk of lung cancer in the North Indian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Individuals with the GSTM1-null and/or NAT2-slow genotypes may constitute susceptible groups with increased risk to contract non-operable lung cancer at younger age and lower smoking dose.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[However, a marked difference in NAT2*4/NAT2*4 genotype frequency associated with the patients gender was observed pointing to a male-specific effect of this genotype as a risk factor in colon cancer.The arylamine-N-acetyltransferase (E.C.2.3.1.5.) NAT2, a phase II detoxification enzyme, has been implicated in procarcinogen activation, namely from food contained arylamines, cigarette smoking, as well as environmental amines of various types.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We analyzed two such loci, the cytochrome P-450 gene CYP2D6 and the N-acetyltransferase 2 (NAT2) genes, in patients with bladder and colon cancer, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Individuals with NAT2 fast acetylator genotypes may have higher colon cancer risks due to faster conversion of certain carcinogens to mutagens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study provides little support for an association between meat consumption and colon cancer risk but does provide some, albeit not strong, evidence for a modifying effect of molecular variants of the NAT2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 genotype did not vary with other clinical features of colon cancer, which included Dukes's stage, site of tumour, and sex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We examined whether our previously reported associations between meat-derived heterocyclic amine (HCA) intake and colon cancer were modified by N-acetyltransferase 1 (NAT1) or 2 (NAT2) genotypes and whether there were differences by race.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Western diet, family history of colorectal cancer, NAT2, GSTM-1 and risk of colon cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Participants with one or more first-degree relatives with colon cancer showed a slightly higher prevalence of at-risk genotypes for each locus, but results were statistically significant only for NAT2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Having GSTM1 present, a CYP1A1 variant allele, and the rapid-acetylator NAT2 imputed phenotype was associated with increased risk of colon cancer (odds ratio = 1.7, 95% confidence interval: 1.2, 2.3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Neither NAT2 nor GSTM-1 polymorphisms were significantly associated with colon cancer, except among older women, in whom the intermediate/rapid imputed phenotype was associated with increased risk of colon cancer [odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.0-1.81.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To determine if genetic differences in NAT1 and NAT2 could alter risk of gastric cancer, we tested for the presence of polymorphic N-acetyltransferase alleles (both NAT1 and NAT2) in a preliminary study of 94 gastric adenocarcinoma patients and 112 control subjects from North Staffordshire, England.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Effects of dietary factors and the NAT2 acetylator status on gastric cancer in Koreans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[GSTT1, SULT1A1 and NAT2 polymorphisms appear to modulate individual's susceptibility to gastric cancer in this Italian population, particularly when more than one unfavourable genotype is present, or when combined with cigarette smoke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 status and gastric cancer risk: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 polymorphism in Omani gastric cancer patients-risk predisposition and clinicopathological associations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 single-nucleotide polymorphisms and risk of gastric carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Relationship between genetic polymorphisms of drug-metabolizing enzymes (CYP1A1, CYP2E1, GSTM1, and NAT2), drinking habits, histological subtypes, and p53 gene point mutations in Japanese patients with gastric cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphisms in genes involved in the metabolism of environmental toxins (e.g., NAT2) clearly modify individual susceptibility to bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Aromatic amines (AAs) and polycyclic aromatic hydrocarbons (PAHs) are carcinogens present in tobacco smoke and functional polymorphisms in NAT2 and GSTM1 metabolizing genes are associated with increased bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genotypes of N-acetyltransferase-2 and risk of bladder cancer: a case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Subjects possessing the NAT2 slow acetylation phenotype and the highest tertile of CYP1A2 scores showed the highest risk for bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In conclusion, molecular genetic analysis of a large sample specified the increased bladder cancer risk of those who are deficient in NAT2 and GSTM1; the other traits proved to be of minor impact.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphisms in GSTT1, GSTM1, NAT1 and NAT2 genes and bladder cancer risk in men and women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Dietary isothiocyanates, GSTM1, GSTT1, NAT2 polymorphisms and bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Gender-specific effects of NAT2 and GSTM1 in bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The enhanced bladder cancer susceptibility of NAT2 slow acetylators towards aromatic amines: a review considering ethnic differences.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[GSTM1 null and NAT2 slow acetylation genotypes, smoking intensity and bladder cancer risk: results from the New England bladder cancer study and NAT2 meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Dietary intake of vegetables and fruits and the modification effects of GSTM1 and NAT2 genotypes on bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Bladder cancer risk from smoking exposure is particularly high in those who inherit NAT2 slow alleles in combination with one or two copies of the NAT1*10 allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Low activity of arylamine N-acetyltransferase 2 (slow NAT2) was consistently associated with urinary bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In the pathogenesis of human bladder cancer due to occupational exposure to 'classical' aromatic amines (benzidine, 4-aminodiphenyl, 1-naphthylamine) acetylation by NAT2 is regarded as a detoxication step.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings confirm established or suspected occupational risk factors but not the anticipated role of NAT2 slow acetylation in bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cigarette smoking, N-acetyltransferase 2 acetylation status, and bladder cancer risk: a case-series meta-analysis of a gene-environment interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Arylamine N-acetyltransferase type 2 (NAT2), chromosome 8 aneuploidy, and identification of a novel NAT1 cosmid clone: an investigation in bladder cancer by interphase FISH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We examined the effects of ETS alone and combined with NAT2/CYP1A2 on bladder cancer risk among lifelong-nonsmokers in a case-control study involving 195 patients and 261 controls in Shanghai, China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data suggest that having a NAT2 slow acetylator genotype is a significant risk factor for BC, particularly in smokers and older individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 and bladder cancer: an overview and consideration of the evidence for gene-environment interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We also hypothesized that allelic variants of the NAT1 and NAT2 genes might modify the effect of the XPD codon 751 polymorphism on smoking-associated bladder-cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An increased risk of bladder cancer was found in NAT2 slow acetylators (odds ratio = 1.46, 95% credible interval (CI): 1.26, 1.68) but not in NAT1 fast acetylators (odds ratio = 1.01, 95% CI: 0.86, 1.22).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[They support the hypothesis that among subjects with the rapid NAT2 acetylation genotype higher levels of HAAs exposure are a bladder cancer risk factor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of NAT1 and NAT2 polymorphisms to urinary bladder cancer: significantly reduced risk in subjects with NAT1*10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 polymorphisms, which are due to point mutations in the structural gene, have long been associated with higher risk for bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Impact of misclassification in genotype-exposure interaction studies: example of N-acetyltransferase 2 (NAT2), smoking, and bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Among these women, we found an increased risk of bladder cancer among exclusive users of permanent hair dyes who had NAT2 slow acetylation phenotype (OR = 7.3, 95% CI: 1.6-32.6) compared to never users of dye with NAT2 rapid/intermediate acetylation phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We first use empirical data on the frequency of the N-acetyltransferase (NAT2) slow acetylation genotype and incidence rates of male bladder cancer and female breast cancer in non-Hispanic U.S. Caucasians with ancestries from eight European countries to assess the bias in a hypothetical population-based U.S. study that does not take ethnicity into consideration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Previously, we showed that NAT2 polymorphisms did not influence bladder cancer risk among Chinese workers exposed exclusively to benzidine (BZ), suggesting that NAT2 N-acetylation is not a critical detoxifying pathway for this aromatic amine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Numerous studies have shown that slow NAT2 haplotypes are associated with increased urinary bladder cancer risk and increased risk of anti-tuberculosis drug-induced hepatotoxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Associations between slow NAT2 acetylator genotypes and urinary bladder cancer and between rapid NAT2 acetylator genotypes and colorectal cancer are the most consistently reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Evidence for an intensity-dependent interaction of NAT2 acetylation genotype and cigarette smoking in the Spanish Bladder Cancer Study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Evidence for a putative association of NAT1 polymorphism and myeloma, lung and bladder cancer, as well as association of NAT2 polymorphisms with non-Hodgkin lymphoma, liver, colorectal and bladder cancer have been reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphisms in NAT2 have long been recognized to modulate toxicity produced by the anti-tubercular drug isoniazid, with molecular epidemiologic studies suggesting a link between acetylator phenotype and increased risk for bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We finally apply the scheme to the interaction between NAT2 polymorphism and tobacco smoking in determining bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association Between N-acetyltransferase 2 Polymorphism and Bladder Cancer Risk: Results From Studies of the Past Decade and a Meta-Analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Multiple studies have shown that the urinary bladder cancer risk is particularly high in the slowest NAT2 acetylator phenotype or genotype (NAT2(*)5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow acetylation and bladder cancer in workers exposed to benzidine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Current smoking, occupation, N-acetyltransferase-2 and bladder cancer: a pooled analysis of genotype-based studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In our analysis of smoking and bladder cancer, the tests for multiplicative interaction seemed to more commonly identify susceptibility loci with associations in never smokers, whereas the additive interaction analysis identified more loci with associations among smokers-including the known smoking and NAT2 acetylation interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow acetylator was associated with marginally increased risk of bladder cancer (OR = 1.50, 95% CI = 0.99-2.27), and the OR for the joint effect with occupational exposure of aromatic amines was 3.26 (95% CI = 1.06-9.95).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Similarly, higher risks of lung or bladder cancer seen at various levels of smoking in association with polymorphism of the glutathione S-transferase gene GSTM1 or NAT1 and NAT2 genes involved in N-acetylation are reviewed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results suggest that NAT2 slow acetylator status is associated with a modest increase in risk of bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Two established bladder cancer susceptibility genotypes, NAT2 slow-acetylation and GSTM1-null, exhibited similar associations among the subphenotypes, as did VEGF-rs25648, which was previously identified in our study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphisms in the NAT2 and the HLA-DPB1(G)(lu69) genes provide classic examples of how genetic susceptibility markers have a clear role in identifying disease risk in bladder cancer and chronic beryllium disease, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results are consistent with the hypothesis that NAT1 and NAT2 might modulate the susceptibility to bladder cancer associated with cigarette smoking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results suggest that smoking coke oven workers with genotypes unfavourable for detoxification of aromatic amines (NAT2-ss) and PAH (GSTM1-null) may have an increased risk of developing bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A recent case-control epidemiology study suggested that human NAT2 slow acetylators exposed to oxidative hair dyes may be at greater risk to develop bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[White blood cell DNA adducts, smoking, and NAT2 and GSTM1 genotypes in bladder cancer: a case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The OR of bladder cancer for those reporting family history of bladder cancer was 4.76 (95% CI, 1.25-18.09) among NAT2-slow acetylators and 1.17 (95% CI, 0.17-7.86) among NAT2-rapid/intermediate acetylators (P(interaction) = 0.609).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: the influence of smoking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our findings suggest that the NAT2*5A genetic polymorphisms plays a significant role in the steady-state concentrations of phenytoin and thereby have impact on toxicity in epileptic patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We conducted a case-control study to investigate the role of NAT2, GSTM1 and GSTT1 in premenopausal breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated whether polymorphic variants of fetal acetyl-N-transferases 1 (NAT1) and 2 (NAT2) interact with maternal cigarette smoking during early pregnancy to increase the risk of delivering an infant with an orofacial cleft.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The NAT2 acetylator genotype may modify esophageal cancer risk in humans from exposure to barbecued/grilled meat.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow acetylator genotype may increase susceptibility to ESCC, and NAT2 haplotypes (C(481)A(590)G(857) and T(481)A(590)G(857)) may predict susceptibility to EC and GC in the Kashmir Valley.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To analyze the distribution of N-acetyltransferase 2 polymorphism in Japanese patients with esophageal squamous cell cancer, a molecular genotyping method using a polymerase chain reaction-based restriction fragment length polymorphism was used.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-Acetyltransferase 2 polymorphisms, cigarette smoking and alcohol consumption, and oral squamous cell cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Despite careful medical record review and full resequencing of the NAT2 coding region, we found no association of NAT2 coding alleles with sulfonamide hypersensitivity (predominantly cutaneous eruptions) in this adult Caucasian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[There was no association between NAT2-haplotypes and skin rash or eosinophilia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 slow metabolizers are more prone to the side effects of polymorphically acetylated drugs, as is the SLE-like syndrome induced by hydralazine and procainamide, the side effects due to sulphasalazine and the skin rash secondary to many sulphonamides.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The presence of synergisms between genotypes, i.e., mEH and NAT2 (LRT for heterogeneity p<0.023), mEH and GSTM1 (LRT p<0.061), and NAT2 and GSTM1 (LRT p<0.049), combined with the interaction observed with exposure to asbestos, suggests the presence of gene-environment and gene-gene interactions in the development of MM, although the size of the study group does not allow to draw clearcut conclusions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[On the other hand, the nucleotidic change 282C>T within NAT2 held the statistical significance (OR=3.54; 95% CI 1.75-7.16; p=0.0002), reinforcing existing evidences that describe genetic polymorphisms of NAT2 possibly involved in the etiology of the MPM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[CYP2E1 genotype and isoniazid-induced hepatotoxicity in patients treated for latent tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Determining the relation between N-acetyltransferase-2 acetylator phenotype and antituberculosis drug induced hepatitis by molecular biologic tests.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphisms of drug-metabolizing enzymes and anti-TB drug-induced hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Increased risk of antituberculosis drug-induced hepatotoxicity in individuals with glutathione S-transferase M1 'null' mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[For genes relevant to drug metabolism, the best replicated association is between isoniazid DILI and NAT2 slow acetylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Susceptibility of N-acetyltransferase 2 slow acetylators to antituberculosis drug-induced liver injury: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cytochrome P450 2E1 genotype and the susceptibility to antituberculosis drug-induced hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Drug-metabolising enzyme polymorphisms and predisposition to anti-tuberculosis drug-induced liver injury: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[DNA microarray genotyping of N-acetyltransferase 2 polymorphism using carbodiimide as the linker for assessment of isoniazid hepatotoxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A recent clinical trial used N-acetyltransferase 2 genotyping to determine the appropriate dose of isoniazid in an anti-tuberculosis therapeutic regimen and demonstrated that pharmacogenetic-based clinical algorithms have the potential to improve efficacy of a drug and to reduce DILI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[NAT2 6A, a haplotype of the N-acetyltransferase 2 gene, is an important biomarker for risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Though the associations with non-HLA genes have been less well replicated than the HLA associations, there is increasing evidence that drug metabolism genes such as NAT2 and UGT2B7 contribute to some forms of DILI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Conclusive evidence for association with DILI risk has been obtained for non-mutated CYP2E1, slow NAT2 and slow GSTM1 genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Among the patient-specific determinants of susceptibility to INH-associated DILI, the importance of HLA genetic variants has been increasingly recognized, whereas the role of polymorphisms of drug-metabolizing enzymes (NAT2 and CYP2E1) has become less important and remains controversial.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The slow acetylator status of NAT2 is a significant susceptibility risk factor for ATDH. CYP2E1 is associated with the severity of ATDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[N-acetyltransferase 2 (NAT2) genotype as a risk factor for development of drug-induced liver injury relating to antituberculosis drug treatment in a mixed-ethnicity patient group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Despite causing similar proteostatic damages, the adPEO- but not the cardiomyopathy/myopathy-type Aac2 proteins form large aggregates.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[More interestingly, the aac2(A137D) allele mimicking ant1(A123D) in mitochondrial myopathy and cardiomyopathy exhibits similar dominant phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Interaction of the cytochrome P4501A2, SULT1A1 and NAT gene polymorphisms with smoking and dietary mutagen intake in modification of the risk of pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Somatic alterations, metabolizing genes and smoking in rectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Using data from the Tennessee Colorectal Polyp Study, a large colonoscopy-based study, including 1,002 polyp cases (557 adenoma only, 250 hyperplastic polyp only, 195 both polyps) and 1,493 polyp-free patients, we evaluated the association of colorectal polyp risk with carcinogen exposure from meat and genetic polymorphisms in enzymes involved in heterocyclic amine (HCA) metabolism, including N-acetyltransferase 1 (NAT1) and N-acetyltransferase 2 (NAT2), cytochrome P450 1A2 (CYP1A2), and aryl hydrocarbon receptor (AhR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We analyzed interactions between talc use and genes in detoxification pathways [glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and N-acetyltransferase 2 (NAT2)] to assess whether the talc/ovarian cancer association is modified by variants of genes potentially involved in the response to talc.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We analyzed interactions between talc use and genes in detoxification pathways glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and N-acetyltransferase 2 (NAT2) to assess whether the talc/ovarian cancer association is modified by variants of genes potentially involved in the response to talc.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The odds ratios for ovarian cancer risk were 2.02 (95% confidence interval CI = 1.14-3.56) in the NAT2 intermediate acetylators and 4.07 (95% CI = 1.30-12.70) in the slow acetylators.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genotype of N-acetyltransferase 2 (NAT2) polymorphism in children with immunoglobulin E-mediated food allergy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Most prior genetic studies on antituberculus drug-induced hepatitis have focused on a few drug-metabolizing enzymes such as cytochrome P450 and N-acetyltransferase 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings suggest that genetic variants in the promoter and exons of NAT2 increase the risk of anti-TB drug-induced hepatitis by modifying acetylation phenotypes and/or gene expression of NAT2, and there is no essential role for genetic mutation of the other metabolizing enzymes in the development of this adverse reaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated the association of Parkinson's disease (PD) with two genes encoding liver-detoxifying enzymes, debrisoquine 4-hydroxylase (CYP2D6) and N-acetyltransferase 2 (NAT2), and with one gene related to Alzheimer's disease, apolipoprotein E (APOE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The NAT2*5/NAT2*5 genotype was more frequent in PD patients with dementia; the NAT2*4/NAT2*5 genotype was more frequent and the NAT2*4/NAT2*6 genotype was less frequent in AD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, i]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that NAT2 slow acetylator phenotype influences the susceptibility of gallbladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Expression of ?1-ACT is down-regulated in human hepatocellular carcinoma (HCC) tissues and cells; we examined its roles in liver regeneration and HCC proliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In addition to being produced in the liver and released into the serum, alpha 1-antichymotrypsin is expressed in Alzheimer brain, particularly in areas that develop amyloid lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The development of compounds able to interfere with the ACT biological activity (protease inhibition and/or promotion of amyloid deposition) might have therapeutic relevance for the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This effect is probably mediated by a higher binding affinity of the transcription initiation complex to the higher expressing allele and overexpression of ACT by astrocytes could thus contribute to increased beta-amyloid fibril formation in AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Immunohistochemistry for ApoE, ApoJ, serum amyloid P (SAP), alpha-1-antichymotrypsin, cystatin C, heparan sulphate proteoglycans, such as agrin, perlecan, syndecans, glypican-1 and for heparan sulphate glycosaminoglycan (HS GAG) side chains was carried out together with immunohistochemical preparations specific to the amyloid subunits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Recently, we found the amyloid associated proteins (AAPs) ?1-antichymotrypsin (ACT), apolipoprotein J and E (ApoJ and ApoE) and a mixture of serum amyloid P (SAP) and C1q (SAP-C1q) to modify A?-uptake by human astrocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Immunocytochemistry of aged cynomolgus brain showed A beta P deposited in blood vessels and diffuse and compacted plaques closely resembling those of humans, and the presence of beta-amyloid-associated proteins (alpha 1-antichymotrypsin; complements C1q and C3c) characteristic of A beta P deposits in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data demonstrate that ACT promotes amyloid deposition and provide a specific mechanism by which inflammation and the subsequent upregulation of astrocytic ACT expression in AD brain contributes to AD pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[They contain amyloid-ss (Ass) peptides in tight association with the serine protease inhibitor alpha(1)-antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The physiological result would be an enhanced ability of the A-encoded alpha(1)-antichymotrypsin protein to become secreted and promote extracellular amyloid formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Differential expression of Cathepsin B and D, GFAP and SERPINA3 was repeatedly found to be significant in both the mouse model and ALS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[MiR-137 directly targeted ACT, thereby indicating that ACT and miR-137 play a role in the pathophysiology of HF and reverse remodeling during mechanical support.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Among these genes, many were observed to be involved in mitochondrial dysfunction and oxidative phosphorylation and 3 extracellular molecules, including periostin, pleiotrophin, and SERPINA3, which might become novel diagnostic and therapeutic targets for HF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[SERPINA1 and SERPINA3 mRNA expression correlated with chondrogenic differentiation of MSCs and dedifferentiation of chondrocytes, and SERPINA1 protein levels in culture supernatants could be correlated alike.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Haplotype analysis showed that IL28B (rs12980275, rs11881222, rs12979860 and rs8099917) haplotype AACT had a protective effect for HCV infection (OR = 0.52, 95% CI = 0.33-0.83, P = 0.00551).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Analyses of associations with asthma in four asthma population samples from Canada and Australia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated the associations between hypertension status and the genotypes of four single nucleotide polymorphism (SNP) sites in four hypertension-related genes (Angiotensinogen AGT, Angiotensin I Converting Enzyme ACE, Angiotensinogen II receptor, subtype 1 AGTR1, and Alpha 1-Antichymotrypsin ACT or SERPINA3), in an African American sample.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The ACT-TT genotype was obtained in 33% of HS who lacked arterial hypertension (P<0.05).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A logistic regression model showed that the presence of genotype with T allele (AT+TT; odds ratio [OR], 2.01; 95% CI, 1.19 to 3.38; P=0.009) or AA genotype (OR, 0.49; 95% CI, 0.30 to 0.84; P=0.009) of the SERPINA3 influences the risk for aneurysmal SAH independently from smoking, excessive alcohol consumption, and hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Anti-inflammatory and antioxidant effects of SERPINA3K in the retina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

Gene-disease associations inferred from animal model manually asserted gene-disease associations.
DisGeNET evidence - PREDICTED

[Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In picomolar concentrations, TNF mediated reversible, dose- and time-dependent increases in biosynthesis of complement proteins factor B and C3, alpha 1 antichymotrypsin, and decreases in biosynthesis of albumin and transferrin in human hepatoma cell lines (Hep G2, Hep 3B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Nuclear ?1-antichymotrypsin promotes chromatin condensation and inhibits proliferation of human hepatocellular carcinoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In our previous work, we dissected the interactome of 14-3-3? formed during the DNA damage response in a hepatocellular carcinoma (HCC) cell using an AACT/SILAC-based quantitative proteomic approach.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A biological consequence of enhanced secretion of IFN-beta 2/IL-6 was the ability of media from infected FS-4 cell cultures to enhance by 8-15-fold the synthesis and secretion of a typical acute phase plasma protein (alpha 1-antichymotrypsin) by human hepatoma Hep3B2 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A toxicogenomic approach to drug-induced phospholipidosis: analysis of its induction mechanism and establishment of a novel in vitro screening system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Determination of phospholipidosis potential based on gene expression analysis in HepG2 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Improved toxicogenomic screening for drug-induced phospholipidosis using a multiplexed quantitative gene expression ArrayPlate assay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Identification of fibrosis-relevant proteins using DIGE (difference in gel electrophoresis) in different models of hepatic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Systems level analysis and identification of pathways and networks associated with liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Plasma alpha 1-antichymotrypsin in liver disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These data indicate that deficiency of alpha(1)-antichymotrypsin is associated with less severe pulmonary disease in patients with CF, and support our previous observations that mild genetic deficiency of a proteinase inhibitor is associated with an improved outcome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association between alpha-1-antichymotrypsin polymorphism and susceptibility to chronic obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To identify modifier genes, we performed family-based association analyses for 10 genes previously associated with asthma and/or COPD, including IL10, TNF, GSTP1, NOS1, NOS3, SERPINA3, SERPINE2, SFTPB, TGFB1, and EPHX1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We conclude that alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants wer]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These mutations were not detected among 100 healthy control subjects, suggesting a possible pathogenetic role of ACT gene defects in a subset of patients with COPD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Based on the protease-antiprotease hypothesis in the pathogenesis of chronic lung diseases, we investigated the influence of Z and S mutations and TaqI-polymorphism of alpha1-antitrypsin gene (PI) and Ala - 15Thr polymorphism in signal peptide of alpha1-antichymotrypsin gene (AACT) in patients with COPD (n = 239), nonobstructive chronic bronchitis (n = 34), brochiectases (n = 33), chronic infant lung disease (n = 151) and cystic fibrosis (n = 57).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha(1)-antichymotrypsin is another important serine proteinase inhibitor that protects the lung against proteolytic attack, and point mutations in the alpha(1)-antichymotrypsin gene that result in plasma deficiency are associated with chronic obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In particular, this intermediate, along with the latent and polymerized conformations, explains the loss of activity of plasma alpha(1)-antichymotrypsin associated with chronic obstructive pulmonary disease in patients with the Leu-55-Pro mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Lack of association of alpha-1 antichymotrypsin gene polymorphism with PR3-ANCA and MPO-ANCA associated vasculitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We provide evidence that MJD in five pedigrees of Azorean descent is also linked to chromosome 14q in an 18-cM region between the markers D14S67 and AACT (multipoint lod score +7.00 near D14S81).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Samples were taken to assess haemoglobin (Hb) concentration, iron status (ferritin, zinc protoporphyrin, transferrin saturation, and soluble transferrin receptor concentration), haptoglobin concentration, alpha-1-antichymotrypsin (a measure of inflammation), and malaria parasites on blood film.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha-1-antichymotrypsin promotes beta-sheet amyloid plaque deposition in a transgenic mouse model of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Hypotheses are presented regarding the possible causes and significance of amyloid deposits in sporadic inclusion-body myositis and the roles of abnormally accumulated ubiquitin, beta-amyloid protein, beta-amyloid precursor protein, alpha 1-antichymotrypsin, hyperphosphorylated tau, and prion protein in the vacuolated muscle fibers in both sporadic inclusion-body myositis and hereditary inclusion-body myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Proinflammatory cytokines and acute phase proteins, such as alpha(1)-antichymotrypsin, are over expressed in microglia and astrocytes in brain regions with abundant mature amyloid plaques, suggesting a glial cell-led brain acute phase response in the Alzheimer neuropathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Serine protease inhibitors (serpins) such as alpha 1-antitrypsin and alpha 1-antichymotrypsin have been found to be associated with beta-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ACT gene polymorphism and primary hypertension are both independent risk factors of cerebral hemorrhage. The ACT AT and TT genotypes show a significant gene-environment interaction, however, of different types, with both primary hypertension and diabetes]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[SERPINA3 polymorphism does not have a role in primary intracerebral hemorrhage in a Polish population]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our study did not show an association between alpha-1 antichymotrypsin signal peptide A/T polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Carriers of the ACT G allele are at risk of developing PCa and genotyping healthy subjects could be a new approach for early prevention.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Ninety-nine patients with HS, 182 patients with IS (symptomatic control subjects), and 80 asymptomatic control subjects were genotyped for the ACT polymorphism using polymerase chain reaction amplification.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The ACT-TT genotype was more frequent in patients with primary intracerebral hemorrhage than in patients with ischemic stroke (31.6% versus 16.4%, P:<0.05) or in control subjects (21.4%, P:=0.1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We also used the alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio as a tool to identify PiZ carriers (intermediate alpha 1-antitrypsin-deficiency, PiZ).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

['A subset of AMI in middle age' had numerous proinflammatory alleles (IL6, TNF, SERPINA3, IFNG, HMGCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[acute myocardial infarction from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE epsilon2/3/4]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Multivariate analysis showed that ACT mRNA level, but not STC2 mRNA level, in HR-positive patients, was a significant prognostic factor (P = 0.042), which was independent of tumor size and lymph node metastases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The multifactorial genetic dysfunction in AD includes mutational loci (APP, PS1, PS2) and diverse susceptibility loci (APOE, A2M, AACT, LRP1, IL1A, TNF, ACE, BACE, BCHE, CST3, MTHFR, GSK3B, NOS3) distributed across the human genome, probably converging in common pathogenic mechanisms that lead to premature neuronal death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A 20-year-old woman, admitted to a neurological ward with a diagnosis of benign intracranial hypertension, was found on specific protein electroimmunoassay to have a consistently decreased concentration of alpha 1-antichymotrypsin in her plasma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of osteoarthritis with homozygosity for a 5.8 kb Taq I fragment of the alpha 1-antichymotrypsin gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study shows that ACT-AA may confer a modest protection against developing early-onset PD in women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic study of apolipoprotein E gene, alpha-1 antichymotrypsin gene in sporadic Parkinson disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We suggest that the ACT polymorphism might play some role in the pathogenesis of PD, especially in the onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha1-antichymotrypsin-AA may confer a modest protection against developing early-onset Parkinson disease in women]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To evaluate the diagnostic utility of free PSA (fPSA) and complexed PSA forms for identification of men with PCa in the low PSA range of <4 microg/l, total PSA (tPSA), alpha(1)-antichymotrypsin complexed PSA (PSA-ACT) and fPSA (Roche Elecsys [ES] system) as well as tPSA and complexed PSA (cPSA) (Bayer Immuno 1 system) were measured in archival serum samples from 31 untreated patients with PCa, 66 patients with BPH, and 90 men without prostatic disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha 1 antichymotrypsin genotype is associated with increased risk of prostate carcinoma and PSA levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Apolipoprotein E and alpha-1-antichymotrypsin genotypes do not predict time to psychosis in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Loop-sheet polymerization is now recognized to underlie deficiency variants of other members of the serine proteinase inhibitor (serpin) superfamily, i.e. antithrombin, C1 esterase inhibitor and alpha(1)-antichymotrypsin, which are associated with thrombosis, angio-oedema and emphysema respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Point mutations of antithrombin, C1 inhibitor, alpha(1)-antichymotrypsin, and heparin cofactor II cause a similar conformational transition, resulting in a plasma deficiency that is associated with thrombosis, angioedema, and emphysema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The consequent lack of plasma antithrombin, C1-inhibitor and alpha(1)-antichymotrypsin results in thrombosis, angio-oedema and emphysema, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Among heterozygotes, the prevalence of asthma in first and second degree relatives with low plasma alpha 1-antichymotrypsin concentration was higher than in relatives with normal plasma ACT concentration, but the difference in prevalence did not reach statistical significance [prevalence ratio 3.1 (0.96-9.83), P = 0.059].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Modest evidence for association with asthma was observed for 2 CNVs near NOS1 and SERPINA3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Gene expression disturbances in the brain of subjects with schizophrenia show complex, region-specific changes with consistently replicated and potentially interdependent induction of serpin peptidase inhibitor, clade A member 3 (SERPINA3) and interferon inducible transmembrane protein (IFITM) family transcripts in the prefrontal cortex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[alpha(1)-antichymotrypsin polymorphism: a risk factor for hemorrhagic stroke in normotensive subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha(1)-antichymotrypsin gene polymorphism in patients with stroke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Post-stroke dementia is associated with alpha(1)-antichymotrypsin polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data suggests a genetic contribution to some types of haemorrhagic stroke, with no overall responsible single gene but rather supporting a polygenic aetiology .]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[alpha (1) -antichymotrypsin polymorphism: a risk factor for hemorrhagic stroke in normotensive subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha1-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Serine protease inhibitor member 3 of clade A (SERPINA3) has been shown as a risk factor for aneurysmal subarachnoid hemorrhage in a Polish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[the A/T polymorphism of SERPINA3 gene is associated with the risk factor for aneurysmal subarachnoid hemorrhage]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Immunocytochemical staining with antiserum raised against the synthetic APP, beta-A4 and alpha 1-antichymotrypsin revealed numerous densely stained cells within hippocampal grafts of Trisomy 16 mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Pathological studies will be required to establish whether the ACT-TT genotype facilitates proteolytic rupture of vessels that harbor amyloidotic changes or another form of nonhypertensive cerebral angiopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To analyse, if an AACT gene polymorphism within the signal peptide sequence is associatedwith antineutrophil cytoplasm autoantibodies (ANCA) vasculitis allelic frequencies of AACT polymorphism were analysed in 128 control persons, 79 PR3-ANCA, and 30 MPO-ANCA patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Increased frequency of the alpha-1-antichymotrypsin T allele in cerebral amyloid angiopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Serine protease inhibitor member 3 of clade A (SERPINA3), also known as alpha-1-antichymotrypsin, inhibits the activity of cathepsin G. The release of neutrophil cathepsin G (proteolytic enzyme) can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The novel biomarker panel obtained by combining ?-1-antichymotrypsin (AACT), Thrombospondin-1 (THBS1) and this variant peptide showed an excellent diagnostic performance in discriminating pancreatic cancer from healthy controls (AUC = 0.98) and chronic pancreatitis (AUC = 0.90).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Patients with cholinergic urticaria also showed a reduction of alpha 1 antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[mRNA expression level of estrogen-inducible gene, alpha 1-antichymotrypsin, is a predictor of early tumor recurrence in patients with invasive breast cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We identified four genetic risk sets for acute myocardial infarction (AMI) from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE epsilon2/3/4; 316 patients and 461 healthy subjects, all Italian.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Therefore measurement of urinary alpha(1)-ACT levels may be useful for monitoring the efficacy of therapeutic regimens for prion disease, and possibly also for deferring blood and organ donors that may be at risk of transmitting prion infections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In cold urticaria there was a significant lowering of alpha 1 antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymorphism rs4934 of SERPINA3 and sporadic intracranial aneurysms in the Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Detection of a new mutant alpha-1-antichymotrypsin in patients with occlusive-cerebrovascular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that ACT lsehara-1 is a new genetic risk factor for ischemic CVD, especially lacunar-type infarction, in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Two hundred twenty patients with acute ischemic stroke (n=182) and primary intracerebral hemorrhage (n=38) and 70 control subjects without clinical cerebrovascular disease were genotyped for the ACT polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Lung cancer susceptibility model based on age, family history and genetic variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The expression pattern of CD55 and SERPINA3 in cholera toxin (CT)-stimulated Caco-2 cells was the same as the pattern found in the intestinal mucosa during acute cholera, indicating that the activation of the CD55 and SERPINA3 genes in intestinal epithelium was induced by CT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Also, the AACT haplotype bearing the -160A allele was significantly associated with PCA in European Americans (P = 0.04).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Elevated expression of SerpinA1 and SerpinA3 in HLA-positive cervical carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha1-antichymotrypsin (ACT: new identification SERPINA3) is a member of the serine proteinase inhibitor (serpin) gene family and biochemically has been shown to be a constituent of the senile plaques of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[alpha-1-Antichymotrypsin (ACT) is present in neuritic plaques in which it participates in the inflammatory cascade of Alzheimer's disease (AD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The tumor cells showed immunoreactivity for vimentin and alpha-1-antichymotrypsin, and were positive for acid phosphatase and non-specific esterase, being compatible with MFH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Recent reports suggest that the T allele of a G/T polymorphism at position -51 of ACT is associated with cognitive decline in AD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[After manifestation of the disease the ACT TT genotype was also associated with faster cognitive decline in patients with the APOE allele epsilon 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To assess whether serum levels of the inflammatory proteins alpha(1)-antichymotrypsin (ACT), C-reactive protein (CRP), interleukin-6 (IL-6), and albumin are associated with cognitive decline in older persons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Absence of the A1252G mutation in alpha 1-antichymotrypsin in a North American population suffering from dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ACT has been shown to promote Abeta polymerization in vitro and in vivo, and levels of ACT protein in plasma and cerebrospinal fluid from Alzheimer's patients have been found to correlate with progression of dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results demonstrate that peripheral ACT levels are elevated in AD, but not in dementias other than AD, and they increase with progression of AD dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Plasma ACT might be used as a surrogate marker to monitor the conversion of pre-dementia stages to AD and the progression of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Apolipoprotein E and intronic polymorphism of presenilin 1 and alpha-1-antichymotrypsin in Alzheimer's disease and vascular dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An in vitro assay revealed that the human homologue SERPINA3 increased the transendothelial permeability of retinal microvascular endothelial cells, which may be involved in the pathogenesis of diabetes and/or diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our objective was to investigate the presence of prostate specific antigen (PSA) and alpha-1-antichymotrypsin (ACT) mRNA and protein in prostate cancer cell lines, and the complexing characteristics of expressed PSA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[alpha 1-Antichymotrypsin as a risk modifier for late-onset Alzheimer's disease in Japanese apolipoprotein E epsilon 4 allele carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study findings suggest that ACT polymorphism (A/T) is a risk factor for post-stroke dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A small subgroup with low alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio included patients with chronic active hepatitis of unknown etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings indicate that inappropriate inflammatory responses are a potential threat to the brain and that intervention directed at inhibiting the expression or function of ACT could be of therapeutic value in neurodegenerative diseases such as Alzheimer's and other tauopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings confirm in a larger series of patients the association between the ACT-TT genotype and HS. This polymorphism is more prevalent in normotensive bleedings. Pathological studies will be required to establish whether the ACT-TT genotype facili]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results showed that the mutant homozygous genotype AA of CHI3L1 SNP rs6691378 and AA of rs10399805, and haplotypes AACC and AACT increased the risk of developing pre-cancerous lesions and invasive cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Apolipoprotein E and alpha-1-antichymotrypsin polymorphisms in sporadic inclusion body myositis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Apolipoprotein E and alpha-1 antichymotrypsin polymorphism genotyping in Alzheimer's disease and in dementia with Lewy bodies. Distinctions between diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Using rocket immunoelectrophoresis, ELISA, and Luminex xMAP technology, we analyzed plasma levels of alpha(1)-antichymotrypsin and alpha(1)-antitrypsin, and CSF levels of alpha(1)-antichymotrypsin, alpha(1)-antitrypsin, and neuroserpin along with three standard biomarkers (total tau, tau phosphorylated at threonine-181, and the A beta(1-42)) in patients with AD (n = 258), patients with dementia with Lewy bodies (DLB; n = 38), and age-matched controls (n = 37).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[PSA in the ovarian tumor was present as free, M(r) 33,000 protein (> 90%) and as PSA bound to alpha 1-antichymotrypsin (M(r) 100,000; < 10%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We could not demonstrate an effect of ACT polymorphisms as a independent risk factor for this disease; however, the ACT/AA genotype seems to act as an additional susceptibility factor, duplicating the APOE*epsilon4-associated AD risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data extend previous reports regarding the inflammatory markers in the plasma and CSF of patients with AD and provide good evidence that levels of ACT, IL-6, MCP-1 and oxLDL in plasma and CSF might be candidates as biomarkers for monitoring the inflammatory process in AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In addition, polymorphisms in the signal peptide and 5' of the AACT gene have been reported to increase the risk of developing AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In conclusion, ACT-17 variation presents a risk factor for AD in the worldwide population, especially in the Caucasian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Among male AD patients, the ACT/AA genotype was also associated with shorter disease duration before death as compared to the ACT/AT+TT genotypes (p = 0.012).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Distribution of plasma alpha 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Gender-specific nonrandom association between the alpha 1-antichymotrypsin and apolipoprotein E polymorphisms in the general population and its implication for the risk of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results do not support previously reported association of ACT and A2M with LOAD, at least in Korean population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[No association between the alpha 1-antichymotrypsin A allele and Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymeric AACT specifically seeds the polymerization of native protein by a serpin-dependent process that occurs under physiological conditions and may be important in the deposition of AACT in plaques in patients with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[APOE is a risk gene for amnestic MCI and that ACT and CHRNA7 may act in these patients as modifier genes for the time of progression to AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[AACT * A6 allele may be associated with AD negatively in Shanghai area, and this effect only exists in non-ApoE * epsilon 4 AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This suggests that alpha 1-antichymotrypsin staining might identify a different facet of the pathology of Alzheimer's disease than does neurofibrillary tangle staining and may provide new information in the study of this condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Increased levels of alpha-1-antichymotrypsin in brains of patients with Alzheimer's disease correlate with activated astrocytes and are affected by APOE 4 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) and DNA sequencing were employed to screen the coding region of the alpha-antichymotrypsin (AACT) gene in Han-Chinese population for polymorphism possibly associated with Alzheimer's disease (AD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In conclusion, ACT may play an important role in the AD pathogenesis and genetic variation in the ACT gene appears to have some effect on plasma ACT concentrations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Main genes involved in AD include mutational loci (APP, PS1, PS2, TAU) and multiple susceptibility loci (APOE, A2M, AACT, LRP1, IL1A, TNF, ACE, BACE, BCHE, CST3, MTHFR, GSK3B, NOS) distributed across the human genome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Now there is evidence that the risk of AD is substantially influenced by a total of 10 polymorphisms in the inflammatory agents interleukin 1alpha, interleukin 1beta, interleukin 6, tumor necrosis factor alpha, alpha(2)-macroglobulin, and alpha(1)-antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This result was further confirmed by the finding that addition of purified ACT induced the same Alzheimer's disease-related tau hyperphosphorylation in cortical neurons cultured in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A25G and G39A substitutions in the AACT gene are probably one of the risk factors to Alzheimer's disease (AD) in Han Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The ACT gene appears to influence the early clinical development of the disease, and the interaction of the ACT and APOE genes affects clinical progression of AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Polygenic determinants of Alzheimer's disease: modulation of the risk by alpha-1-antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha 1-antichymotrypsin gene polymorphism and risk for Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic association of two chromosome 14 genes (presenilin 1 and alpha 1-antichymotrypsin) with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Blood levels of alpha-1-antichymotrypsin and risk factors for Alzheimer's disease: effects of gender and apolipoprotein E genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A role for apoE in regulating the levels of alpha-1-antichymotrypsin in the aging mouse brain and in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Testing 147 AD patients and 74 controls, we did not find evidence of an association between alpha 1-antichymotrypsin polymorphism and AD and also failed to detect a modifying effect of this polymorphism in patients carrying at least one epsilon 4 allele of apolipoprotein E.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[(1,2) However, it is unknown whether the increased expression of alpha(1)-antichymotrypsin found in AD brains counteracts or contributes to the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Effect of cytokines, dexamethasone and the A/T-signal peptide polymorphism on the expression of alpha(1)-antichymotrypsin in astrocytes: significance for Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic variation in alpha(1)-antichymotrypsin and its association with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Microsatellite polymorphism of the alpha 1-antichymotrypsin gene locus associated with sporadic Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Allele-specific overexpression in astrocytes of an Alzheimer's disease associated alpha-1-antichymotrypsin promoter polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Higher CSF levels of neuroserpin and alpha(1)-antichymotrypsin were associated with the clinical diagnosis of Alzheimer disease (AD) and facilitated the diagnostic classification of AD vs controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The expression of alpha(1)-antichymotrypsin (ACT) is significantly enhanced in affected brain regions in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha-1-antichymotrypsin gene polymorphism and risk for sporadic Alzheimer's disease in a German population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[There are striking similarities between the pathology of inclusion-body myositis muscle and brains affected by Alzheimer's disease in regard to accumulation of ubiquitin, beta-amyloid protein and its precursor protein, alpha 1-antichymotrypsin, and hyperphosphorylated tau.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[overexpression of ACT by astrocytes could thus contribute to increased beta-amyloid fibril formation in Alzheimer's disease]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Kamboh et al reported an association between Alzheimer's disease and the A allele of alpha1-antichymotrypsin (Aact) gene, which was not confirmed in a larger series more recently analysed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Lack of genetic associations of alpha-1-antichymotrypsin polymorphism with alzheimer-type neuropathological changes or sporadic Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Transfection of precursor miR-34b or miR-34c into CRC cells induced dramatic changes in the gene expression profile, and there was significant overlap between the genes down-regulated by miR-34b/c and those down-regulated by DAC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Low-dose demethylating agents such as 5-aza-2'-deoxycytidine (decitabine, DAC) and 5-azacytidine (azacitidine, Vidaza) have been explored for the treatment of myelodysplasia, acute myeloid leukemia, and hemoglobinopathies since the early 1980s, aiming to revert a methylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We studied mitochondrial and apoptotic parameters in mononuclear cells from maternal peripheral blood and infant cord blood at delivery in 27 HIV-infected and treated pregnant women, and 35 uninfected controls and their infants, to correlate clinical outcome with experimental findings: mitochondrial number (CS), mtDNA content (ND2/18SrRNA), mitochondrial protein synthesis (COX-II/V-DAC), mitochondrial function (enzymatic activities) and apoptotic rate (caspase-3/?-actin).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Preclinical data indicate that DAC is much more effective against human AML than ARA-C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study, the first to investigate the relationship between TERT methylation and telomerase activity in leukemia cells, demonstrated a differential methylation pattern and response to DAC in three AML cell lines.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Undergoing allo-HSCT significantly improved the LFS and OS for the entire group of patients with AML in CR1, along with the DAC induction subgroup and for the group with unfavorable cytogenetics aged 41-60.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The promoter of p73 was hypermethylated in AML cell lines in vitro and in primary AML cells ex vivo but not in DAC-resistant epithelial cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To identify miRNAs regulated by DNA methylation, the global miRNA expression profile was analyzed in two hepatocellular carcinoma (HCC) cell lines and two normal immortalized cell lines treated with 5-Aza-2'-deoxycytidine (DAC, an inhibitor of DNA methylation) plus TSA (Trichostatin A, histone deacetylase inhibitor).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Arylacetamide deacetylase attenuates fatty-acid-induced triacylglycerol accumulation in rat hepatoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Encouraging response rates of about 50% in myelodysplasia with 5-azacytidine and 5-aza-2'-deoxycytidine (decitabine or DAC) have resulted in a number of phase III studies being initiated in this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[During the last 10 years, three European phase II studies were performed to investigate the treatment of elderly patients with myelodysplastic syndrome (MDS) with low-dose 5-aza-2'-deoxycytidine (decitabine, DAC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Putative methylation markers were selected from DAC-upregulated genes through a literature search and an upfront methylation-specific PCR on 20 primary neuroblastoma tumors, as well as through MBD- seq in combination with publicly available neuroblastoma tumor gene expression data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We have demonstrated that the expression of MAGE-A1, MAGE-A3, and NY-ESO-1 can be upregulated on neuroblastoma cells following exposure to pharmacologic levels of the demethylating agent 5-aza-2'-deoxycytidine (decitabine, DAC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A combination of DAC and SAHA inhibited ovarian cancer growth while inducing apoptosis, G2/M arrest, autophagy, and re-expression of imprinted tumor suppressor genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Both events were recently shown to occur in a rhabdomyosarcoma cell line (RD-DAC) resistant to actinomycin D, a drug of choice in the treatment of these tumours.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The TE.32.7-DAC-resistant cell line exhibited cross-resistance to vincristine and doxorubicin and showed mdr1/P-glycoprotein over-expression, suggesting that this mechanism was involved in the reduction in intracellular drug concentration and may be responsible for the failure of treatment of RMS with classical cycles of cytotoxics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study is aimed to investigate, on transcriptional and protein levels, the synergic effects of unaccompanied and/or combined use of 5-aza-2'-deoxycytidine (DAC, 5-aza-dC), trichostatin A (TSA), and gemcitabine+cisplatin chemotherapeutic agents on the apoptotic pathway of human bladder cancer cell line T24.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We have demonstrated that a demethylating chemotherapeutic drug, 5-aza-2'-deoxycytidine (decitabine, DAC) can upregulate the expression of cancer-testis (CT) antigens, MHC molecules, and intracellular cell adhesion molecule-1 on pediatric sarcoma cell lines, resulting in enhanced killing of tumor cells by CT antigen-specific cytotoxic T lymphocytes derived from pediatric sarcoma patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In the present study, the results denote some new molecular DAC targets and pathways based on the chemical modification of DNA methylation in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Therefore, in the present study, we hypothesize that the expression and methylation status of the secreted frizzled-related protein 2 (sFRP2) gene, one of the secreted antagonists that bind Wnt protein, and re-expression of this gene with the demethylation agent (5-aza-2'-deoxycytidine; DAC) may induce apoptosis in RCC cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The Dachshund (dac) gene, initially cloned as a dominant inhibitor of the Drosophila hyperactive EGFR mutant ellipse, encodes a key component of the cell fate determination pathway involved in Drosophila eye development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The Drosophila Dac gene was cloned as an inhibitor of the hyperactive epidermal growth factor (EGFR), ellipse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A significant increase in the mRNA expression levels of MAGE-A1 and MAGE-A3 were found in 70 %, and NY-ESO-1 in 80 % of the sarcoma lines following exposure to pharmacological levels of DAC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Upon analysis of the tissue distribution of AAMP, it was found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The cDNA for AAMP (angio-associated, migratory cell protein) was first isolated from a human melanoma cell line during a search for motility-associated cell surface proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Finally, a significant correlation was observed between AA-NAT and edn-1 expression downregulation in human colorectal cancer tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The products of AANAT activity were identified by RP-HPLC with fluorimetric detection in human skin and in cultured normal and malignant melanocytes and immortalized keratinocytes; HIOMT activity was detected in human skin, keratinocytes, and melanoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The role of arylalkylamine N-acetyltransferase (AANAT) enzyme and impact of melatonin, as a major output factor of circadian rhythm, and its protective role in melanoma are discussed in details.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The present review also makes a comment on the role of arylalkylamine N-acetyltransferase, an important enzyme involved in the conversion of serotonin to melatonin, in asthma pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Two key enzymes involved in the synthesis of melatonin, hydroxyindole-O-methyltransferase (HIOMT) and arylalkylamine N-acetyltransferase (AA-NAT), are present in Y79 human retinoblastoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[TPH1 polymorphisms were associated with AIS but not with gender and Cobb angle in AIS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Examination of association of genes in the serotonin system to autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We assessed the contribution of AANAT gene variability to susceptibility to MD considering common and rare genetic variations through a sequential sequencing and single nucleotide polymorphism (SNP)-based genotyping approach in a sample of 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[No significant breast cancer associations were found for variants in the AANAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Further studies are needed to fully characterize the behavioral significance of AANAT mutation and its possible link to depression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genes involved in melatonin synthesis, such as Aa-nat, may be important for our understanding of diurnal preference and circadian rhythm disturbances in humans.In Japan, Hohjoh et al. reported increased allelic frequencies of the 619A allele of the G619A Aa-nat gene polymorphism in a sample of Delayed Sleep Phase Syndrome (DSPS) patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The -263G/C SNP may therefore be an important determinant of the late/short sleep pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Severe disruption of the editing activity of AlaRS caused embryonic lethality, whereas an intermediate reduction in AlaRS editing efficacy resulted in ubiquitinated protein aggregates and mitochondrial defects in cardiomyocytes that were accompanied by progressive cardiac fibrosis and dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To investigate the role of AARS in CMT, we performed a mutation screen of the AARS gene in patients with peripheral neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We report that the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR)?=?1.15, 95% confidence interval (CI)?=?1.01-1.31], rs801186 in HARS (OR?=?1.29, 95% CI?=?1.08-1.54), rs193466 in RARS (OR?=?1.17, 95% CI?=?1.02-1.35), and rs2273802 in WARS (OR?=?1.14, 95% CI?=?1.01-1.30).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[AARS mutations result in not only a CMT phenotype but also a dHMN phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The relevance of the AARS and HSPB1 mutations in the pathogenesis of CMT2 is further highlighted.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To date six families have been reported worldwide with dominant missense alanyl-tRNA synthetase (AARS) mutations leading to clinically heterogeneous axonal neuropathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Since the appearing of anti-Jo-1 and other anti-AARSs is related to characteristic immunogenetic and clinical features, they can be considered specific markers in diagnosis and classification of patients affected by IIM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Activation of the extracellular signal-regulated kinase 1/2 pathway by AAV gene transfer protects retinal ganglion cells in glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The latter is of particular interest because the AAV integration site (AAVS1) is located on the long arm of chromosome 19 and 30-40% of human glioblastoma tumors are reported to have loss of heterozygosity in this region of chromosome 19q.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Further, the levels of transgene expression appear to be independent of 19q allelic status or the number of endogenous AAVS1 sequences in the various glioma cell lines studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Adeno-associated viral (AAV) gene transfer of coagulation factor VIII and IX to skeletal muscle and liver of murine and canine models of hemophilia A and B have resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Adeno-associated viral (AAV) gene transfer of coagulation factor IX to skeletal muscle and liver of murine and canine models of hemophilia has resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Vectors based on herpes simplex virus type-1 (HSV-1) permit delivery of transgenes of up to 150 kb, while the inverted terminal repeats and Rep of the adeno-associated virus (AAV) can confer site-specific integration into the AAVS1 site, which allows sustained expression of a transgene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Interestingly, a recent study suggests that AAV gene transfer in dystrophic dogs may require up to 18 weeks' immune suppression using a combination of three different immune-suppressive drugs (cyclosporine, mycophenolate mofetil, and anti-dog thymocyte globulin).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results indicate the efficacy of gene delivery and demonstrate the possibility of gene therapy mediated by AAV gene transfer in this mouse model of homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Because the success of retroviral gene therapy for X-CGD has been hampered by insertional activation of proto-oncogenes, targeting the insertion of a gp91phox transgene into potential safe harbor sites, such as AAVS1, may represent a valid alternative.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Zinc finger nuclease-mediated gene targeting of a single-copy gp91(phox) therapeutic minigene into one allele of the 'safe harbor' AAVS1 locus in X-CGD iPSCs without off-target inserts resulted in sustained expression of gp91(phox) and substantially restored neutrophil ROS production.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study demonstrates that AAV-mediated TPP1 enzyme replacement corrects the hallmark cellular pathologies of cLINCL in the mouse model and raises the possibility of using AAV gene therapy to treat cLINCL patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[For the first time, efficient AAV gene transfer into human CML cells could be shown, with the potential for future clinical application.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The aim of this study was to attain long-lasting alpha-sarcoglycan gene expression in limb-girdle muscular dystrophy, type 2D (LGMD2D) subjects mediated by adeno-associated virus (AAV) gene transfer under control of a muscle specific promoter (tMCK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In this study, we used zinc finger nucleases and integrase-defective lentiviral vectors to demonstrate for the first time that FANCA can be efficiently and specifically targeted into the AAVS1 safe harbor locus in fibroblasts from FA-A patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Adeno-associated virus (AAV) gene therapy for neurological disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To identify potential toxicities, we consulted the existing evidence from AAV gene therapy for other nervous system disorders (animal toxicology and human studies) and from the clinical pharmacology of conventional analgesic drugs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Sustained relief of neuropathic pain by AAV-targeted expression of CBD3 peptide in rat dorsal root ganglion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The aim of present study was to characterize the site-specific profile and metabolic effects of Ex-4 levels expressed from salivary glands (SG) in vivo, following adeno-associated virus-mediated (AAV) gene therapy in two different animal models of obesity prone to impaired glucose tolerance and T2DM, specifically, Zucker fa/fa rats and high fed diet (HFD) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that expression of a therapeutic transgene can be controlled by the presence of inflammation following AAV gene transfer, making it an attractive vector for chronic inflammatory diseases such as RA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Finally, we tested our best candidate by AAV gene transfer in a mouse model of retinitis pigmentosa that expresses a mutant allele of the human rhodopsin gene, and demonstrated the feasibility of trans-splicing in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Adeno-associated virus (AAV) gene therapy achieved global CNS Hex restoration and widespread normalization of storage in the SD mouse model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The two independent AAVS1, CAG, and enhanced green fluorescent protein (EGFP) hiPS cell reporter lines that we have developed do not show silencing of EGFP either in undifferentiated hiPS cells or in randomly and lineage-specifically differentiated cells or in teratomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A murine model of CTLN1 (fold/fold) that displays lethality within the first 21 days of life was used to determine the efficacy of adeno-associated viral (AAV) gene transfer as a potential therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results support the feasibility and safety of AAV gene therapy for AAT deficiency, and indicate that serum levels of vector-derived normal human AAT >20??g/ml can be achieved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The present review summarizes the progress on AAV gene delivery models for three different CNS disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Safety of AAV factor IX peripheral transvenular gene delivery to muscle in hemophilia B dogs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In this article we review the current state of AAV mediated gene therapy for hemophilia B in the clinic, detail progress since the first successful trial, and discuss alternative approaches from the AAV gene therapy field.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Role of the vector genome and underlying factor IX mutation in immune responses to AAV gene therapy for hemophilia B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Vector capsid dose-dependent inflammation of transduced liver has limited the ability of adeno-associated virus (AAV) factor IX (FIX) gene therapy vectors to reliably convert severe to mild hemophilia B in human clinical trials.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We report here the correction of ?-thalassemia major hydrops fetalis in transgene-free iPS cells using zinc finger-mediated insertion of a globin transgene in the AAVS1 site on human chromosome 19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We have previously demonstrated the efficacy of systemic adeno-associated viral (AAV) gene delivery as a treatment for MMA in a murine model and therefore sought to survey AAV antibody titers against serotypes 2, 8, and 9 in a group of well-characterized MMA patients, accrued via a dedicated natural history study ( clinicaltrials.gov ID: NCT00078078).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To circumvent this, we developed a method to modify neurons with the genetic sequence for therapeutic monoclonal antibodies using adeno-associated virus (AAV) gene transfer vectors, directing persistent, local expression in the tumor milieu.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Transplanting cardiomyocytes from an engineered AAVS1-CAG-EGFP hiPS cell line in a myocardial infarcted mouse model showed persistent expression of the transgene for at least 7 weeks in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These studies provide novel insights into AAV gene expression, and this newly described promoter allows for the production of AAV vectors expressing CFTR in those differentiated cells affected in CF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated whether CF sputum acts as a barrier to leading adeno-associated virus (AAV) gene vectors, including AAV2, the only serotype tested in CF clinical trials, and AAV1, a leading candidate for future trials.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We developed a new model of cardiac tissue-specific transgenic-like mice on the basis of AAV gene transfer to test the potential of a combination of a human PKP2 mutation and endurance training to trigger an ARVC-like phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This study suggests a potential therapeutic role for AAT in preventing type I diabetes as well as the ability of AAV gene therapy-based approaches to ameliorate disease effectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Following adeno-associated virus (AAV) gene transfer, robust microgene expression is achieved in murine DMD models in the absence of immune suppression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[However, AAV gene therapy for DMD remains a significant challenge.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Therefore, the potential presence of viral particles in axons may not represent an important safety issue for AAV gene therapy applications in neurodegenerative diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results presented in this report show promise for AAV gene therapy for LGMD, but underscore the need for intervention early in the time course of the disease process.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Adeno-associated virus (AAV) has been the vector of choice in recent clinical trials of neurological disease, including Parkinson's and Alzheimer's disease, due to the safety, efficacy, and stability of AAV gene transfer to the CNS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In contrast, other BZ-binding site ligands, such as 6-(2bromophenyl)-8-fluoro-4H-imidazo [1,5-a][1,4] benzodiazepine-3-carboxamide (imidazenil), which fail to allosterically and positively modulate the action of GABA at GABA(A) receptors with alpha(1) subunits but that selectively allosterically modulate cortical GABA(A) receptors containing alpha(5) subunits, contribute to the anxiolytic, antipanic, and anticonvulsant actions of these ligands without producing sedation, amnesia, or tolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Inhibitors of GABA metabolism: implications for Huntington's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mechanism of GABA involvement in post-traumatic trigeminal neuropathic pain: activation of neuronal circuitry composed of PKC? interneurons and pERK1/2 expressing neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Anorectic potency of inhibiting GABA transaminase in brain: studies of hypothalamic, dietary and genetic obesities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An approach based on a genome-wide association study reveals candidate loci for narcolepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Identification of a median thalamic system regulating seizures and arousal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Anticonvulsant activity of Benkara malabarica (Linn.) root extract: In vitro and in vivo investigation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Infantile spasms (IS) have poor outcomes and limited treatment options, including vigabatrin, a ?-aminobutyric acid (GABA) aminotransferase inactivator.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Vigabatrin, a GABA transaminase inhibitor, reversibly eliminates tinnitus in an animal model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[(1S, 3S)-3-amino-4-difluoromethylenyl-1-cyclopentanoic acid (CPP-115), a potent ?-aminobutyric acid aminotransferase inactivator for the treatment of cocaine addiction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Assessment of the treatment effect of baicalein on a model of Parkinsonian tremor and elucidation of the mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Enhanced GABAergic tone in the ventral pallidum: memory of unpleasant experiences?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An analysis of the cortical and striatal involvement in dyskinesia induced in rats by intracerebral injection of GABA-transaminase inhibitors and picrotoxin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that neither low plasma GABA at baseline nor altered plasma GABA response to diazepam is associated with increased genetic risk for alcoholism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Greater HSPC mobilization and extramedullary hematopoiesis were reversed by raising HDL levels in Abca1(-/-)Abcg1(-/-) and Apoe(-/-) mice or in a mouse model of myeloproliferative neoplasm mediated by Flt3-ITD mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic heterogeneity of membrane-bound beta-glucosidase in Gaucher's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Membrane-bound (MUC1) and secretory (MUC2, MUC3, and MUC4) mucin gene expression in human lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our results demonstrate that soluble inhibitors produced by NSCLC cells may provide further protection from complement beyond the level ensured by membrane-bound inhibitors and, as such, contribute to the aggressive phenotype of these lung cancer cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Here we document a novel function of TIB using fresh human lung cancer tissues engrafted in SCID mice; they are at activated state and produce tumor-specific antibodies in tumor microenvironment: (a) TIB engrafted in SCID mice produced human IgG; (b) IgG derived from TIB highly bound intracellular and membrane-bound antigens of autologous cancer cells; and (c) less recognition of autoantigens expressed on normal lymphocytes by IgG derived from TIB compared with IgG from the serum of the patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gene and Primary Angle Closure Glaucoma in a Han Chinese Population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our findings indicate that de novo SL synthesis, S1P receptor-mediated signaling, and ABCA1-mediated S1P efflux could provide pharmacological targets to interfere with glioma cell proliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The localization of the soluble gelatinase B indicates an association with neovascularization, whereas membrane-bound MMPs may account for the invasive potential of the glial tumor cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In MSC/glioma coculture, PDGF-BB mRNA and the corresponding proteins (soluble and membrane bound forms) as well as the receptors were found to be significantly downregulated when compared with that of glioma cocultured with normal human astrocytes or glioma monoculture.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Importantly, sera from GSD-Ia mice are more efficient than sera from control littermates in promoting SR-BI- and ABCA1-mediated cholesterol effluxes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Fibroblast-Activation Protein-? (FAP) is a membrane-bound serine protease that is expressed on the surface of reactive stromal fibroblasts present within the majority of human epithelial tumors but is not expressed by normal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The development of inhibitors of insulin-regulated aminopeptidase (IRAP), a membrane-bound zinc metallopeptidase, is a promising approach for the discovery of drugs for the treatment of memory loss such as that associated with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Alpha-thalassaemia caused by alpha-globin gene termination codon mutations (alphaT-globin) has been explained by their inherent mRNA instability and by oxidative damage arising from the presence of membrane-bound alphaT-globin chains.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Single Nucleotide Polymorphism in ABCA1 is associated with susceptibility to radiation dermatitis in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[IL12RB2 and ABCA1 genes are associated with susceptibility to radiation dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In order to study the role of ST3Gal-I in mammary tumor development, we developed transgenic mice that over-express the sialyltransferase under the control of the human membrane-bound mucin 1 promoter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Membrane-bound complement-regulatory proteins expression was evaluated using real-time PCR (RT-PCR) and flow cytometry, whereas Her2/neu expression and c-erbB2 gene amplification were assessed using immunohistochemistry, flow cytometry and fluorescent in-situ hybridisation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Patients with chronic granulomatous disease (CGD) are defective in one of the phagocyte oxidase (phox) components, p47-phox or p67-phox, which reside in the cytosol of resting phagocytes, or gp91-phox or p22-phox, which constitute the membrane-bound cytochrome b(558).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Patients suffering from chronic granulomatous disease (CGD) are defective in one of the following components: p47-phox and p67-phox, residing in the cytosol of resting phagocytes, and gp91-phox and p22-phox, constituting the membrane-bound cytochrome b558.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations resulting in CGD have been shown to occur in only four genes, thus identifying the main components of the oxidase complex, namely the two subunits of a membrane-bound cytochrome b and two cytosolic factors of activation of 67 kD (p67phox) and 47 kD (p47phox).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Chronic granulomatous disease (CGD) results from defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, central to which is the membrane-bound cytochrome b-245.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Analysis of three patients with X91 CGD revealed that different mechanisms of molecular quality control lead to the common phenotype of absence of mature membrane-bound NADPH oxidase complex in leukocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Prostate specific membrane antigen (PSMA), is a unique membrane bound glycoprotein, which is overexpressed manifold on prostate cancer as well as neovasculature of most of the solid tumors, but not in the vasculature of the normal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The ratio of membrane-bound form Flt-1 mRNA to VEGF mRNA correlates with tumor angiogenesis and prognosis in non-small cell lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[It is important to confirm whether known loci have a consistent effect across ethnic groups. We show replication of 5 Caucasian genome-wide association studies lipid associations in Mexicans. The remaining loci will require a comprehensive investigation t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Thus, we evaluated the immunofluorescence pattern of TRAIL-receptors and E-cadherin to assess the fraction of membrane-bound TRAIL-receptors in 231 selected patients with early-stage CRC undergoing surgical treatment only.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Expression of membrane-bound Fas ligand (FasL) by colorectal cancer cells may allow the development of an immune-privileged site by eliminating incoming tumour-infiltrating lymphocytes (TILs) in a Fas-mediated counter-attack.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Vangl proteins are thought to assemble with other PCP proteins (Dvl, Pk) to form membrane-bound PCP signaling complexes that provide polarity information to the cell.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In view of future clinical studies using membrane-bound TRAIL, our results highlight a strategy to rescue patients with primary or acquired resistance due to the lack of DR5 expression in tumor vasculature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Here, we assayed the key Th2 cytokine, IL-4, and its soluble and membrane-bound receptor in patients with SAR before and after SIT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Normal prostate tissue displayed a membrane-bound ATP12A staining with focal accumulated pattern, whereas in the benign prostate hyperplasia (BPH) and cancerous prostate tissue (tumor grade I-III) the protein appears to be displaced in the luminal cells of the glandular epithelium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In human prostate biopsy samples, ABCA1 mRNA expression was ?2-fold higher in the androgen deprivation therapy group than in subjects with benign prostatic hyperplasia or pretreatment prostate cancer groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Recent studies have implicated mutations in the ATP-binding cassette transporter A1, ABCA1, as a cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in the ABCA1 gene are linked to rare phenotypes, familial hypoalphalipoproteinemia (FHA) and Tangier disease (TD), characterized by markedly decreased plasma high-density lipoprotein cholesterol (HDL-C) levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S-->X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inherited form of familial hypoalphalipoproteinemia (FHA) associated with reduced cholesterol efflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 gene was initially implicated in Tangier disease and familial hypoalphalipoproteinemia and has been shown to be associated with coronary artery disease and atherosclerosis as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The identification of mutations in ABCA1 in patients with Tangier disease and familial HDL deficiency demonstrated that inadequate transport of phospholipid and cholesterol to the extracellular space results in the hypercatabolism of lipid-poor nascent HDL particles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To determine whether naturally occurring mutants of ABCA1 may affect its phosphorylation activity, fibroblasts from subjects with familial HDL deficiency (FHD, heterozygous ABCA1 defect) and Tangier disease (TD, homozygous/compound heterozygous ABCA1 defect) were treated with 8-Br-cAMP or forskolin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This corresponds to human 9q31.1, a chromosomal segment that contains the ATP-binding cassette protein-1 (ABCA1) gene, which is mutated in Tangier Disease and familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations in ABCA1 cause severe HDL deficiency syndromes called Tangier disease and familial high-density lipoprotein deficiency, which are characterized by a severe deficiency or absence of high-density lipoprotein in the plasma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Amyloid beta protein (Abeta) starts to deposit as plasma membrane-bound form in diffuse plaques of brains from hereditary cerebral hemorrhage with amyloidosis-Dutch type, Alzheimer disease and nondemented aged subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Amyloid beta protein precursor (APP) is a membrane-bound protein ubiquitously expressed in a variety of types of cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Theoretical methods are used to develop models for the ion channel structure of the membrane-bound amyloid beta-protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mint adaptor proteins bind to the membrane-bound amyloid precursor protein (APP) and affect the production of pathogenic amyloid-? (A?) peptides related to Alzheimer's disease (AD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Animal and in vitro studies indicate that ABCA1 is involved in the production of amyloid-? (A?), a pivotal protein in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Several independent studies have shown this poorly lipidated apoE increases amyloid burden in mouse models of AD, demonstrating that apoE lipidation by ABCA1 affects key steps in amyloid deposition or clearance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Previous data demonstrate that bexarotene (Bex), retinoid X receptor (RXR) agonist, reduces soluble and insoluble amyloid-? (A?) in Alzheimer disease (AD)-transgenic mice either by increasing the levels of mouse apolipoprotein E (apoE) or increasing ABCA1/ABCG1-induced apoE lipoprotein association/lipidation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 has been shown in mouse models to enable the clearance of amyloid-? peptide from the brain, through its role in the lipidation of apolipoprotein (APOE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Proteolytic cleavage of beta-APP within the approximately 4-kDa beta-amyloid domain permits the secretion of the amino-terminal portion of beta-APP while concomitantly producing a membrane bound approximately 9-kDa carboxyl-terminal fragment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-? production independent of cholesterol efflux activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data delineate a folding pathway for ?-synuclein that ranges from a physiological multimeric, ?-helical, and membrane-bound species that acts as a SNARE-complex chaperone over a monomeric, natively unfolded form to an amyloid-like aggregate that is neurotoxic in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Here, we provide a brief summary of the approaches undertaken by different groups that lead to the nowadays working model of LXR and ABCA1 regulatory role in brain amyloidogenesis and amyloid clearance and we highlight the therapeutic potential of LXR agonists.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[By electron microscopy, bundles of immunogold-labelled amyloid fibrils could be identified in coated and uncoated single membrane-bound vesicles of endoneurial macrophages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 is Necessary for Bexarotene-Mediated Clearance of Soluble Amyloid Beta from the Hippocampus of APP/PS1 Mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data indicate that ABCA1 is upregulated in AD hippocampal neurons potentially via an amyloid-beta-mediated pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The LXR-ABCA1-APOE regulatory axis is now considered a promising therapeutic target in AD, which includes the only proven risk factor for AD - APOE, at two distinct levels - transcriptional regulation by LXR, and ABCA1 controlled lipidation which can influence Abeta aggregation and amyloid clearance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The data for amyloid plaques and insoluble amyloid-? (A?) also show that Abca1 hemizygosity increases A? deposition only in APP/E4/Abca1(-/+) but not in APP/E3/Abca1(-/+) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Lack of ABCA1 considerably decreases brain ApoE level and increases amyloid deposition in APP23 mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We detected reduced KCC2 messenger RNA levels and less membrane-bound KCC2 immunoreactivity in ALS-vulnerable motoneurons in lumbar spinal cord and hypoglossal nuclei of SOD1-G93A mice but not in degeneration-resistant oculomotor nuclei.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The human neurological channelopathies are a rapidly expanding group of mainly genetic conditions that are characterized by dysfunction of membrane-bound glycoproteins (ion channels).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The reason for the clonal proliferation of HCD cells and the biological effects of the truncated membrane-bound chains are presently unknown.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In the NaPB-treated Hep3B cells without NS5A expression, induction of apoptosis was associated with Bax redistribution from the cytosol to the nucleus interior and subsequently, to a nuclear membrane-bound form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The risk of anemia was increased for variant alleles of rs1128503 (ABCB1, C?>?T; p?=?0.023, OR?=?1.71, 95% CI?=?1.07-2.71), rs363717 (ABCA1, A?>?G; p?=?0.002, OR?=?2.08, 95% CI?=?1.32-3.27) and rs11615 (ERCC1, T?>?C; p?=?0.031, OR?=?1.61, 95% CI?=?1.04-2.50), while it was decreased for variant alleles of rs12762549 (ABCC2, C?>?G; p?=?0.004, OR?=?0.51, 95% CI?=?0.33-0.81).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Expression of membrane-bound IL-15 by bone marrow fibroblast-like stromal cells in aplastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The results demonstrated that AA T cells abnormally expressed low levels of membrane-bound FasL and contained high levels of intracellular FasL which could be triggered to release by high-dose phytohemagglutinin (PHA) pulse-stimulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Up-regulation of the ATP-binding cassette transporter A1 inhibits hepatitis C virus infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The expression of membrane-bound Fas ligand (FasL) and Fas in lymphocytes and monocytes and levels of soluble forms of FasL (sFasL) and Fas (sFas) in plasma from human immunodeficiency virus (HIV)-positive and -negative subjects was evaluated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[In vivo, increased monocyte ABCA1 expression in untreated HIV-infected patients and normalization of ABCA1 expression with virological suppression by ART supports direct HIV-induced impairment of cholesterol efflux previously demonstrated in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We have now constructed two unique recombinant HIV-1 vaccines that co-express soluble or membrane-bound forms of the IL-13 receptor ?2 (IL-13R?2), which can 'transiently' block IL-13 activity at the vaccination site causing wild-type animals to behave similar to an IL-13 KO animal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To address this question, we used Hodgkin lymphoma (HL) as a model because histopathological characteristics of HL are thought to be due mostly to the effects of a wide variety of cytokines, including TGFbeta or membrane-bound receptors such as PD-1 that are suspected to contribute to immune evasion of tumor cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Molecular perturbation of cholesterol biosynthesis and efflux in astrocytes caused similarly altered astrocyte-neuron cross talk, whereas enhancement of glial SREBP2 and ABCA1 function reversed the aspects of neuronal dysfunction in HD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[LDL receptor knockout (KO) mice were transplanted with bone marrow from ABCA1/apoE double KO (dKO) mice, their respective single KO's, and wild-type (WT) controls and were challenged with a high-fat/high-cholesterol diet for 9 weeks.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in AB]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Deficiency of macrophage ACAT1 accelerates atherosclerosis in apoE-/- mice but has no effect when hypercholesterolemia is corrected by apoE expression/deletion impairs ABCA1-mediated cholesterol efflux in macrophages regardless of apoE expression]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These combined results indicate that overexpression of ABCA1 in C57BL/6 mice on a high cholesterol diet results in an atheroprotective lipoprotein profile and decreased atherosclerosis, and thus provide previously undocumented in vivo evidence of an anti-atherogenic role for the ABCA1 transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The effect of H?S on ABCA1 expression and lipid metabolism were assessed in vitro by cultured human hepatoma cell line HepG2, and in vivo by ApoE(-/-) mice with a high-cholesterol diet.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic regression analysis with adjustment for age, sex, body mass index, smoking status, and the prevalence of diabetes mellitus and hypercholesterolemia revealed that the -14C-->T polymorphism of ABCA1, the C-->G (Ser2229Cys) polymorphism of ROS1, the C-->T (Asn591Asn) polymorphism of LDLR, the 13989A-->G (Ile118Val) polymorphism of CYP3A4, the C-->G and A-->C polymorphisms of ADIPOR1, and the -519A-->G polymorphism of MMP1 were significantly (P<0.05) associated with the prevalence of hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Gene expression experiments with LDL receptor lacking primary FH fibroblasts, revealed that SR-BI and ABCA1 are important regulators for cholesterol acquisition in FH cells, consistent with findings in cells from NPC and TD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Suppression of these PKC isoforms also negated the stimulatory effects of hyperglycaemia on the protein expression of NADPH oxidase membrane-bound components, Nox2 and p22-phox which determine the overall enzymatic activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Isolated low HDL-C subjects also demonstrated an increase in ?-cell secretory capacity but in contrast to those with ABCA1 mutations, exhibited impaired insulin sensitivity, supporting ?-cell compensation for increased insulin demand.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Hyperlipidemic Mexican subjects with the ABCA1 R230C genotype showed lower HDL-concentrations and were better responders to dietary portfolio treatments for increasing HDL-C concentrations than subjects with the R230R genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[An intronic single nucleotide polymorphism in ABCA1 and the APOE epsilon3 allele are associated with reduced LDLc lowering by statins and identify individuals who may be resistant to maximal LDLc lowering by statins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with hyperlipidemia in this study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our work shows that major allele homozygotes for ABCA1 single nucleotide polymorphisms i27943 and i48168 have a lower postprandial response as compared to minor allele carriers. This finding may further characterize the role of ABCA1 in lipid metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of polymorphisms of ABCA1 and ROS1 with hypertension in Japanese individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that polymorphisms of ABCA1 and ROS1 are determinants of blood pressure and the development of hypertension in Japanese individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 heterozygotes have decreased HDL cholesterol (HDL-C) and increased triglycerides.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[ABCA1 promotes the de novo biogenesis of apolipoprotein CIII-containing HDL particles in vivo and modulates the severity of apolipoprotein CIII-induced hypertriglyceridemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Mutations within the ABCA1 gene are associated with decreased HDL-C, increased triglycerides, and an increased risk of CAD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Membrane-bound tyrosine kinase activity was not present in untreated or RA-treated cells but was induced by A23187 treatment alone and was markedly increased in cells 48 hr after treatment with the combination of A23187 and RA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The most characteristic histological feature in ICD is the storage of membrane-bound vacuoles with fibrillo-granular contents in fibroblasts and of smaller inclusions with concentric ring-like profiles in endothelial cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Expression of vascular cell adhesion molecule-1 (VCAM-1) messenger RNA (mRNA) was also strikingly elevated in cultured ECs after exposure to sickle cell perfusion, although increases in membrane-bound and soluble VCAM-1 levels were small.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Several studies have evaluated the role of the multidrug resistance 1 gene (MDR1) polymorphism, which encodes the membrane-bound efflux transporter P-glycoprotein 170, in determining susceptibility to and disease behavior in inflammatory bowel disease (IBD), but with conflicting results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Allelic variants of the ATP-binding cassette, subfamily B member 1 (ABCB1), also known as the multidrug resistance gene (MDR1) that encodes the membrane-bound efflux transporter P-glycoprotein 170 (PGP-170), have been associated with inflammatory bowel disease but with conflicting results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[To study the putative function of O-acetyl-GD3, we established stably transfected AbC-1 amelanotic hamster melanoma cells with O-acetylesterase gene from influenza C virus to hydrolyze the O-acetyl group from O-acetyl-GD3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The brain of the aging spongecake mutant exhibits regionally specific, membrane-bound vacuoles similar to those seen in spongiform degenerations such as Creutzfeldt-Jakob disease [6,7].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms may be associated with a protective role against CHD and extend those to another important pathologic condition, namely stroke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[APL express membrane-bound TRAIL on their surface and exhibit a pattern of TRAIL-R expression similar to that observed in the other types of AML.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[The capacity of serum to induce ABCA1- and SR-BI-mediated cholesterol efflux was impaired in diabetic patients with incipient or overt nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[These results suggest that the variation in the expression profile of membrane bound and soluble isoforms may modulate the risk for ESRD and AR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Niacin improves renal lipid metabolism and slows progression in chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[GAP activity in both the membrane-bound and soluble fractions was sharply decreased and its immunohistochemical expression showed mild staining in the four histological types of renal tumours.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Further tests showed that BeWo cells did not express the transcript for the membrane-bound Cu-ATPase that has been identified with Menkes syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Variants in maternal and fetal genes for cholesterol metabolism were associated with PTD and decreased birth weight or gestational age in this study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[We investigated ABCG1 and ABCA1 expression in alveolar macrophages of PAP patients and GM-CSF knockout (KO) mice, which exhibit PAP-like pulmonary pathology and increased pulmonary cholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[No mutations in HTG-related genes, ABCA1 and LCAT were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[Subjects with complete LCAT deficiency showed mostly the small ?4 HDL subpopulation and subjects with complete ABCA1 deficiency the ?4 and pre? HDL subpopulations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

[This survey underlines the allelic heterogeneity of ABCA1 mutations and suggests that: (i) TD subjects, if asymptomatic, may be overlooked and (ii) there may be a selection bias in genotyping towards carriers of ABCA1 mutations who have pCAD possibly related to a combination of genetic and environmental cardiovascular risk factors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.