Molecular etiologies of MODY and other early-onset forms of diabetes (Q35087428)

6 August 2017

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title

Molecular etiologies of MODY and other early-onset forms of diabetes (English)

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6 August 2017

David Q Shih

1

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PubMed ID

12643132

6 August 2017

Markus Stoffel

series ordinal

2

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6 August 2017

1 April 2002

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6 August 2017

Current diabetes report

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6 August 2017

2

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6 August 2017

2

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6 August 2017

125-134

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https://scigraph.springernature.com/pub.10.1007/s11892-002-0071-9

6 August 2017

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cites work

Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11892-002-0071-9

Maternally inherited diabetes and deafness: a multicenter study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11892-002-0071-9

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

21 January 2018

1 reference

12 December 2020

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

12 December 2020

beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes

1 reference

12 December 2020

Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20.

1 reference

12 December 2020

Attenuation of FGF signalling in mouse β-cells leads to diabetes

1 reference

12 December 2020

Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome

1 reference

12 December 2020

Mutations in the glucokinase gene of the fetus result in reduced birth weight

1 reference

12 December 2020

A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus

1 reference

12 December 2020

Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus

1 reference

12 December 2020

The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

1 reference

12 December 2020

Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4alpha/MODY1 gene

1 reference

12 December 2020

Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice

1 reference

12 December 2020

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

1 reference

12 December 2020

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

1 reference

12 December 2020

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

1 reference

12 December 2020

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

12 December 2020

Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus

1 reference

12 December 2020

Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4alpha in Caucasians with maturity onset NIDDM

1 reference

12 December 2020

Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes

1 reference

12 December 2020

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations

1 reference

12 December 2020

Phenotypic alterations in insulin-deficient mutant mice.

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

1 reference

12 December 2020

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1

1 reference

12 December 2020

Mutant insulin syndromes

1 reference

12 December 2020

Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism

1 reference

12 December 2020

Pancreatic beta cell-specific transcription of the pdx-1 gene. The role of conserved upstream control regions and their hepatic nuclear factor 3beta sites.

1 reference

12 December 2020

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

1 reference

12 December 2020

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis

1 reference

12 December 2020

IPF1, a homeodomain-containing transactivator of the insulin gene

1 reference

12 December 2020

Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism

1 reference

12 December 2020

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

12 December 2020

A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice

1 reference

12 December 2020

Regulation of a transcription factor network required for differentiation and metabolism.

1 reference

12 December 2020

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

1 reference

12 December 2020

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

1 reference

12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

12 December 2020

Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos

1 reference

12 December 2020

Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

1 reference

12 December 2020

PDX:PBX complexes are required for normal proliferation of pancreatic cells during development

1 reference

12 December 2020

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

1 reference

12 December 2020

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes

1 reference

12 December 2020

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors

1 reference

12 December 2020

Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects

1 reference

12 December 2020

Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deficient mice

1 reference

12 December 2020

Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect

1 reference

12 December 2020

Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification

1 reference

12 December 2020

The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes

1 reference

12 December 2020

Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations

1 reference

12 December 2020

The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree

1 reference

12 December 2020

Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative

1 reference

12 December 2020

Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels

1 reference

12 December 2020

A pancreatic beta -cell-specific enhancer in the human PDX-1 gene is regulated by hepatocyte nuclear factor 3beta (HNF-3beta ), HNF-1alpha, and SPs transcription factors

1 reference

12 December 2020

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

1 reference

12 December 2020

Insulin-promoter-factor 1 is required for pancreas development in mice

1 reference

12 December 2020

Novel MODY3 Mutations in the Hepatocyte Nuclear Factor-1 Gene: Evidence for a Hyperexcitability of Pancreatic -cells to Intravenous Secretagogues in a Glucose-Tolerant Carrier of a P447L Mutation

1 reference

12 December 2020

Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein

1 reference

12 December 2020

Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation

1 reference

12 December 2020

10.1007/S11892-002-0071-9

Identifiers

DOI

1 reference

6 August 2017

1 reference

PubMed ID

12643132