|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
HNF4α is a culprit gene product for a monogenic and dominantly-inherited form of diabetes, referred to as MODY1 (Maturity Onset Diabetes of the Young type 1).
|
30648609 |
2019 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We recommend inclusion of exon 1E and nearby DNA sequences in screening for HNF4alpha mutations and polymorphisms in genetic analyses of MODY1 and T2DM.
|
19353766 |
2009 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
The Protein Data Bank.
|
10592235 |
2000 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
|
17407387 |
2007 |
|
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 |
Characteristics of maturity onset diabetes of the young in a large diabetes center.
|
26059258 |
2016 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
|
24285859 |
2014 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Multidomain integration in the structure of the HNF-4α nuclear receptor complex.
|
23485969 |
2013 |
|
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 |
UNIPROT |
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
|
17407387 |
2007 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hepatocyte nuclear factor 4α (HNF4α) has an important role in pancreatic β-cells, and mutations of the human <i>HNF4A</i> gene cause a type of maturity-onset diabetes of the young (MODY1).
|
28364040 |
2017 |
|
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 and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
|
23348805 |
2013 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.
|
27245055 |
2016 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
|
24285859 |
2014 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.
|
25819479 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
|
20164212 |
2010 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HNF4alpha gene are associated with maturity onset diabetes of the young type 1 (MODY1).
|
20003313 |
2009 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.
|
28458902 |
2017 |