Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes (Q33875774)

29 July 2017

Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes (English)

1 reference

29 July 2017

1 reference

Andrew Tym Hattersley

6

object named as

Andrew Hattersley

0 references

Sian Ellard

object named as

Sian Ellard

2

0 references

Catherine Pihoker

4

object named as

Catherine Pihoker

1 reference

29 July 2017

5

Lisa K Gilliam

1 reference

29 July 2017

7

Lawrence M Dolan

1 reference

29 July 2017

Roopa Kanakatti Shankar

1

1 reference

PubMed ID

23551881

29 July 2017

Debra Standiford

3

1 reference

29 July 2017

31 March 2013

1 reference

29 July 2017

1 reference

29 July 2017

14

1 reference

29 July 2017

7

1 reference

29 July 2017

535-538

1 reference

Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

The diagnosis and management of monogenic diabetes in children and adolescents

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090307

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia

5 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12018

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12018

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12018

Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23551881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23551881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23551881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/PEDI.12018

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

23551881