|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
HNF-4α protein mutations are linked to maturity-onset diabetes of the young, type 1 (MODY1) and hyperinsulinaemic hypoglycaemia.
|
23485969 |
2013 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families.
|
23652628 |
2013 |
|
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 |
GeneticVariation
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
|
22802087 |
2012 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we profiled metabolites in serum from patients with MODY1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), and type 2 diabetes and from healthy individuals to characterize metabolic perturbations caused by specific mutations.
|
23139355 |
2013 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)?
|
18513302 |
2008 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Identification of 9-cis-retinoic acid as a pancreas-specific autacoid that attenuates glucose-stimulated insulin secretion.
|
21115832 |
2010 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
|
28242437 |
2017 |