Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1α gene in a Korean family with MODY3 (Q44415057)

reason for preferred rank

2 December 2017

Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1α gene in a Korean family with MODY3 (English)

1 reference

https://api.crossref.org/works/10.1007/S00125-003-1079-7

27 December 2023

Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

27 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

27 December 2023

missense mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

27 December 2023

1 reference

https://api.crossref.org/works/10.1007/S00125-003-1079-7

27 December 2023

author name string

K-A Kim

1

1 reference

2 December 2017

Y-I Chi

3

1 reference

2 December 2017

M-K Lee

5

1 reference

2 December 2017

K-W Kim

6

1 reference

2 December 2017

M-S Lee

8

1 reference

2 December 2017

K. Kang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

27 December 2023

I. Chang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

27 December 2023

S. E. Shoelson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

27 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12712243

27 December 2023

publication date

24 April 2003

1 reference

full work available at URL

2 December 2017

https://link.springer.com/content/pdf/10.1007/s00125-003-1079-7.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12712243

http://link.springer.com/content/pdf/10.1007/s00125-003-1079-7.pdf

27 December 2023

file format

Portable Document Format

1 reference

DOI

https://api.crossref.org/works/10.1007/S00125-003-1079-7

http://link.springer.com/article/10.1007/s00125-003-1079-7/fulltext.html

27 December 2023

1 reference

https://api.crossref.org/works/10.1007/S00125-003-1079-7

http://link.springer.com/content/pdf/10.1007/s00125-003-1079-7

27 December 2023

1 reference

DOI

https://api.crossref.org/works/10.1007/S00125-003-1079-7

27 December 2023

1 reference

2 December 2017

46

1 reference

2 December 2017

5

1 reference

2 December 2017

721-727

1 reference

https://scigraph.springernature.com/pub.10.1007/s00125-003-1079-7

2 December 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

HNF1, a homeoprotein member of the hepatic transcription regulatory network

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1beta mutations in familial type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Steroid receptor coactivator-1 interacts with the p50 subunit and coactivates nuclear factor kappaB-mediated transactivations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Diabetes mutations delineate an atypical POU domain in HNF-1alpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Hepatocyte nuclear factor 1alpha gene inactivation impairs chromatin remodeling and demethylation of the phenylalanine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

The HNF-4/HNF-1alpha transactivation cascade regulates gene activity and chromatin structure of the human serine protease inhibitor gene cluster at 14q32.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Nuclear protein CBP is a coactivator for the transcription factor CREB

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

Adenoviral ElA-associated protein p300 as a functional homologue of the transcriptional co-activator CBP

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS00125-003-1079-7

21 January 2018

12 December 2020

HNF-1, a member of a novel class of dimerizing homeodomain proteins

1 reference

12 December 2020

Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations

1 reference

12 December 2020

Maturity-onset diabetes of the young (MODY).

1 reference

12 December 2020

E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators

1 reference

12 December 2020

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

1 reference

2 December 2017

1 reference