Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6608
pubmed:dateCreated
1997-1-6
pubmed:databankReference
pubmed:abstractText
The disease maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM), characterized by early onset, usually before 25 years of age and often in adolescence or childhood, and by autosomal dominant inheritance. It has been estimated that 2-5% of patients with NIDDM may have this form of diabetes mellitus. Clinical studies have shown that prediabetic MODY subjects have normal insulin sensitivity but suffer from a defect in glucose-stimulated insulin secretion, suggesting that pancreatic beta-cell dysfunction rather than insulin resistance is the primary defect in this disorder. Linkage studies have localized the genes that are mutated in MODY on human chromosomes 20 (MODY1), 7 (MODY2) and 12 (MODY3), with MODY2 and MODY3 being allelic with the genes encoding glucokinase, a key regulator of insulin secretion, and hepatocyte nuclear factor-1alpha (HNF-1alpha), a transcription factor involved in tissue-specific regulation of liver genes but also expressed in pancreatic islets, insulinoma cells and other tissues. Here we show that MODY1 is the gene encoding HNF-4alpha (gene symbol, TCF14), a member of the steroid/thyroid hormone receptor superfamily and an upstream regulator of HNF-1alpha expression.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Basic Helix-Loop-Helix Leucine..., http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/HNF1A protein, human, http://linkedlifedata.com/resource/pubmed/chemical/HNF1B protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 1, http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 1-alpha, http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 1-beta, http://linkedlifedata.com/resource/pubmed/chemical/Hepatocyte Nuclear Factor 4, http://linkedlifedata.com/resource/pubmed/chemical/MLX protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Glucocorticoid, http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0028-0836
pubmed:author
pubmed:issnType
Print
pubmed:day
5
pubmed:volume
384
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
458-60
pubmed:dateRevised
2008-9-11
pubmed:meshHeading
pubmed-meshheading:8945471-Adult, pubmed-meshheading:8945471-Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, pubmed-meshheading:8945471-DNA-Binding Proteins, pubmed-meshheading:8945471-Diabetes Mellitus, Type 2, pubmed-meshheading:8945471-Exons, pubmed-meshheading:8945471-Female, pubmed-meshheading:8945471-Gene Expression Regulation, pubmed-meshheading:8945471-Hepatocyte Nuclear Factor 1, pubmed-meshheading:8945471-Hepatocyte Nuclear Factor 1-alpha, pubmed-meshheading:8945471-Hepatocyte Nuclear Factor 1-beta, pubmed-meshheading:8945471-Hepatocyte Nuclear Factor 4, pubmed-meshheading:8945471-Humans, pubmed-meshheading:8945471-Male, pubmed-meshheading:8945471-Middle Aged, pubmed-meshheading:8945471-Molecular Sequence Data, pubmed-meshheading:8945471-Mutation, pubmed-meshheading:8945471-Nuclear Proteins, pubmed-meshheading:8945471-Pedigree, pubmed-meshheading:8945471-Phosphoproteins, pubmed-meshheading:8945471-Receptors, Glucocorticoid, pubmed-meshheading:8945471-Transcription Factors
pubmed:year
1996
pubmed:articleTitle
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
pubmed:affiliation
Howard Hughes Medical Institute, The University of Chicago, Illinois 60637, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't