(Q73201102)

English

T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects

scientific article published on 25 March 2003

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12669197%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12669197%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

type 2 diabetes

1 reference

based on heuristic

inferred from title

author name string

Q Zhu

1

1 reference

Europe PubMed Central

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2 November 2019

K Yamagata

2

1 reference

Europe PubMed Central

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2 November 2019

A Miura

3

1 reference

Europe PubMed Central

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2 November 2019

N Shihara

4

1 reference

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2 November 2019

Y Horikawa

5

1 reference

Europe PubMed Central

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2 November 2019

J Takeda

6

1 reference

Europe PubMed Central

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2 November 2019

J Miyagawa

7

1 reference

Europe PubMed Central

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2 November 2019

Y Matsuzawa

8

1 reference

Europe PubMed Central

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2 November 2019

publication date

25 March 2003

1 reference

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2 November 2019

1 reference

Europe PubMed Central

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2 November 2019

46

1 reference

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2 November 2019

4

1 reference

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2 November 2019

567-573

1 reference

Europe PubMed Central

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2 November 2019

https://scigraph.springernature.com/pub.10.1007/s00125-003-1067-y

0 references

The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence for a susceptibility locus for type 2 diabetes on chromosome 20q13.1-q13.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serine phosphorylation of death agonist BAD in response to survival factor results in binding to 14-3-3 not BCL-X(L)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1b

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure/function studies of hepatocyte nuclear factor-1alpha, a diabetes-associated transcription factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

R127W in HNF4? is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific overexpression of lipoprotein lipase causes tissue-specific insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional domains of the nuclear receptor hepatocyte nuclear factor 4.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatocyte nuclear factor 4alpha (nuclear receptor 2A1) is essential for maintenance of hepatic gene expression and lipid homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homeostasis model assessment: insulin resistance and ?-cell function from fasting plasma glucose and insulin concentrations in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The DNA binding domain of hepatocyte nuclear factor 4 mediates cooperative, specific binding to DNA and heterodimerization with the retinoid X receptor alpha

1 reference

https://pubmed.ncbi.nlm.nih.gov/12669197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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