|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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.
|
16917892 |
2006 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hepatocyte nuclear factor 4alpha (HNF4A), the gene for the maturity-onset diabetes of the young type 1 monogenic form of type 2 diabetes, is within the type 2 diabetes-linked region on chromosome 20q12-q13.1 and, consequently, is a positional candidate gene for type 2 diabetes in the general population.
|
15793260 |
2005 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
|
15830177 |
2005 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Together with previous results obtained with chicken ovalbumin upstream promoter-transcription factor II, our results highlight that impairment of recruitment of transcriptional partners represents an important mechanism leading to abnormal HNF4alpha function resulting from the MODY1 E276Q mutation.
|
11435618 |
2001 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Protein Data Bank.
|
10592235 |
2000 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients.
|
10768098 |
2000 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).
|
10389854 |
1999 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, our results suggest that the MODY1 phenotype is due to a loss of functional HNF-4 protein that is aggravated in tissues that express relatively low amounts of HNF-4, such as pancreas.
|
9604881 |
1998 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
9313765 |
1997 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.
|
9243109 |
1997 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This mutation is located in a highly conserved region of the promoter and disrupts the binding site for the transcription factor HNF-4 alpha, mutations in the gene encoding HNF-4 alpha being another cause of MODY (MODY1).
|
9313764 |
1997 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage.
|
193395 |
1977 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|