[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/3479", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0013336", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGN37ac08b48000033fac35cfcff772dbda", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/3479" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0013336" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[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://purl.org/ontology/wi/core#evidence" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/15928254" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/eco.owl#ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225", "http://purl.org/pav/2.0/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2014-02-25" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature", "@type" : [ "http://purl.obolibrary.org/obo/eco.owl#ECO_0000212" ], "http://www.w3.org/2000/01/rdf-schema#comment" : [ { "@language" : "en", "@value" : "Gene-disease associations inferred from text-mining the literature." } ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@language" : "en", "@value" : "DisGeNET evidence - LITERATURE" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2014-10-02T12:33:25+02:00" } ], "http://purl.org/dc/terms/rights" : [ { "@id" : "http://opendatacommons.org/licenses/odbl/1.0/" } ], "http://purl.org/dc/terms/rightsHolder" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup" } ], "http://purl.org/dc/terms/subject" : [ { "@id" : "http://semanticscience.org/resource/SIO_000983" } ], "http://purl.org/net/provenance/ns#usedData" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf" } ], "http://purl.org/pav/2.0/authoredBy" : [ { "@id" : "http://orcid.org/0000-0001-5999-6269" }, { "@id" : "http://orcid.org/0000-0002-7534-7661" }, { "@id" : "http://orcid.org/0000-0002-9383-528X" }, { "@id" : "http://orcid.org/0000-0003-0169-8159" }, { "@id" : "http://orcid.org/0000-0003-1244-7654" } ], "http://purl.org/pav/2.0/createdBy" : [ { "@id" : "http://orcid.org/0000-0003-0169-8159" } ], "http://purl.org/pav/2.0/version" : [ { "@value" : "v2.1.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf", "http://purl.org/pav/2.0/version" : [ { "@value" : "v2.1.0" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo" } ]