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p(HGNC:UCP1) -| path(SDIS:"Type II diabetes")
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Approximately 61,000 statements.
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Copyright (c) 2011-2012, Selventa. All rights reserved.
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BEL Framework Large Corpus Document
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Brown fat exists in the interscapular fat pad of rodents. In humans, there are significant collections of BAT in the neonatal period primarily in the thoracic cavity surrounding the great vessels. Recent data have indicated that in adults white fat contains small islands of BAT and UCP-1 is detectable by PCR techniques (Champigny & Ricquier 1996). However, in humans the implication of BAT in energy expenditure is still under discussion. The human UCP-1 gene has been cloned, sequenced and mapped to the long arm of chromosome 4 (q31), allowing the identification of several genetic variants. Human UCP-1 gene has been screened for polymorphisms associated with susceptibility to type 2 diabetes (Mori et al. 2001). An A/C transition in the 5' untranslated region of exon 1 and also a Met229/Leu variant were found. Interestingly, the allele frequencies for the C variant and for the Leu229 variant were higher in the type 2 diabetic group than in the control group. The authors of this study propose that the A/C transition could result in impaired promoter activity and subsequently, in a reduced abundance of UCP-1 protein.
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Selventa
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2014-07-03T14:32:41.839+02:00
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