| http://purl.uniprot.org/citations/9449683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9449683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9449683 | http://www.w3.org/2000/01/rdf-schema#comment | "Non-insulin-dependent diabetes mellitus (NIDDM) is a heterogeneous disorder characterized by hyperglycemia resulting from defects in insulin secretion and action. Recent studies have found mutations in the hepatocyte nuclear factor-4 alpha gene (HNF-4alpha) in families with maturity-onset diabetes of the young (MODY), an autosomal dominant form of diabetes characterized by early age at onset and a defect in glucose-stimulated insulin secretion. During the course of our search for susceptibility genes contributing to the more common late-onset NIDDM forms, we observed nominal evidence for linkage between NIDDM and markers in the region of the HNF-4alpha/MODY1 locus in a subset of French families with NIDDM diagnosed before 45 yr of age. Thus, we screened these families for mutations in the HNF-4alpha gene. We found a missense mutation, resulting in a valine-to-isoleucine substitution at codon 393 in a single family. This mutation cosegregated with diabetes and impaired insulin secretion, and was not present in 119 control subjects. Expression studies showed that this conservative substitution is associated with a marked reduction of transactivation activity, a result consistent with this mutation contributing to the insulin secretory defect observed in this family."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci1403"xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci1403"xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Durand E."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Durand E."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Bell G.I."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Bell G.I."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Furuta H."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Furuta H."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Froguel P."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Froguel P."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Laine B."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Laine B."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Boutin P."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Boutin P."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Demenais F."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Demenais F."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Suaud L."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Suaud L."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Philippi A."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Philippi A."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Chevre J.-C."xsd:string |
| http://purl.uniprot.org/citations/9449683 | http://purl.uniprot.org/core/author | "Chevre J.-C."xsd:string |