http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_head http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://identifiers.org/ncbigene/3479 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0013336 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN37ac08b48000033fac35cfcff772dbda http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3479 http://rdf.disgenet.org/gene-disease-association.ttl#DGN37ac08b48000033fac35cfcff772dbda http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013336 http://rdf.disgenet.org/gene-disease-association.ttl#DGN37ac08b48000033fac35cfcff772dbda http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://purl.org/dc/terms/description [We found the following results: 1) a heterozygous mutation (R709Q) changing the cleavage site from Arg-Lys-Arg-Arg to Arg-Lys-Gln-Arg was identified in a 6-yr-old Japanese girl (case 1) and her mother who also had IUGR with short stature (case 2); 2) fibroblasts from case 2 contained more IGF-IR proreceptor protein (189 +/- 26% of normal) and less mature beta-subunit protein (63 +/- 12%); 3) [125I]IGF-I binding to fibroblasts from case 2 was reduced, compared with normal control (0.61 +/- 0.16 x 10(6) vs. 1.14 +/- 0.12 x 10(6) sites per cell; P < 0.05); and 4) both IGF-I-stimulated [3H]thymidine incorporation and IGF-IR beta-subunit autophosphorylation were low in fibroblasts from case 2, compared with those of control (P < 0.05).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15928254 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/dc/terms/created 2014-10-02T12:33:25+02:00 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0