Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
about
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strengthHNF1alpha controls renal glucose reabsorption in mouse and man.Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutationsMutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjectsp59OASL, a 2'-5' oligoadenylate synthetase like protein: a novel human gene related to the 2'-5' oligoadenylate synthetase familyHepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 geneDefective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitusMissense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetesVariation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitusStudies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificityThe maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolismDiagnosis of HNF-1alpha mutations on a PNA zip-code microarray by single base extensionCandidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin actionPrevalence, predisposition and prevention of type II diabetes.Authors' ReplyGenome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyPancreatic Cancer GeneticsCurrent Proceedings in the Molecular Dissection of Hepatocellular Adenomas: Review and Hands-on Guide for DiagnosisRole of ZAC1 in transient neonatal diabetes mellitus and glucose metabolismEpidemiology and Inherited Predisposition for Sporadic Pancreatic AdenocarcinomaNew opportunities: harnessing induced pluripotency for discovery in diabetes and metabolismMolecular pathogenesis of hepatic adenomas and its implications for surgical managementHuman mutations affect the epigenetic/bookmarking function of HNF1BEpistasis of transcriptomes reveals synergism between transcriptional activators Hnf1alpha and Hnf4alphaRapid phenotyping of knockout mice to identify genetic determinants of bone strengthNatural history of β-cell adaptation and failure in type 2 diabetesUndiagnosed MODY: Time for ActionAutoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoterTwo initiator-like elements are required for the combined activation of the human apolipoprotein C-III promoter by upstream stimulatory factor and hepatic nuclear factor-4Bi-allelic inactivation of TCF1 in hepatic adenomasThe Gly972-->Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cellsGenomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia studyActivity of hepatocyte nuclear factor 1alpha and hepatocyte nuclear factor 1beta isoforms is differently affected by the inhibition of protein phosphatases 1/2AAnks4b, a novel target of HNF4α protein, interacts with GRP78 protein and regulates endoplasmic reticulum stress-induced apoptosis in pancreatic β-cellsA molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null miceHNF1alpha is involved in tissue-specific regulation of CFTR gene expressionG protein-coupled receptor 39 deficiency is associated with pancreatic islet dysfunctionLaron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse.
P2860
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P2860
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Mutations in the hepatocyte nu ...... diabetes of the young (MODY3)
@en
Mutations in the hepatocyte nu ...... ty-onset diabetes of the young
@nl
type
label
Mutations in the hepatocyte nu ...... diabetes of the young (MODY3)
@en
Mutations in the hepatocyte nu ...... ty-onset diabetes of the young
@nl
prefLabel
Mutations in the hepatocyte nu ...... diabetes of the young (MODY3)
@en
Mutations in the hepatocyte nu ...... ty-onset diabetes of the young
@nl
P2093
P356
P1433
P1476
Mutations in the hepatocyte nu ...... diabetes of the young (MODY3)
@en
P2093
Boriraj VV
Hattersley AT
P2888
P304
P356
10.1038/384455A0
P407
P577
1996-12-01T00:00:00Z
P5875
P6179
1024933698