Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection (Q57920428)

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Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.

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English	Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection	article	Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.

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scholarly article

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Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection (English)

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molecular genetics

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based on heuristic

inferred from title

object named as

J. Lebl

9

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object named as

S. Ellard

11

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1

object named as

Pearson ER

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author name string

S. Pruhova

2

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C. J. Tack

3

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A. Johansen

4

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H. A. J. Castleden

5

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P. J. Lumb

6

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A. S. Wierzbicki

7

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P. M. Clark

8

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O. Pedersen

10

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T. Hansen

12

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A. T. Hattersley

13

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language of work or name

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publication date

14 April 2005

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48

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878-885

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5

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https://scigraph.springernature.com/pub.10.1007/s00125-005-1738-y

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Dissection of the LXXLL nuclear receptor-coactivator interaction motif using combinatorial peptide libraries: discovery of peptide antagonists of estrogen receptors alpha and beta

1 reference

https://api.crossref.org/works/10.1007%2FS00125-005-1738-Y

21 January 2018

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic abnormality in the beta cell determines the response to an oral glucose load

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic cause of hyperglycaemia and response to treatment in diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correct homeostasis model assessment (HOMA) evaluation uses the computer program

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucocorticoid signaling is perturbed by the atypical orphan receptor and corepressor SHP

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different genes, different diabetes: lessons from maturity-onset diabetes of the young

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced pancreatic polypeptide response to hypoglycemia and amylin response to arginine in subjects with a mutation in the HNF-4alpha/MODY1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control of pancreas and liver gene expression by HNF transcription factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Triple genetic variation in the HNF-4alpha gene is associated with early-onset type 2 diabetes mellitus in a philippino family

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic switch in pancreatic beta-cells: implications for differentiation and haploinsufficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15830177

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/15830177

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/15830177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00125-005-1738-Y

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