Associated Papers
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells.
Low BSJ et al.
Nature Communications, 2021
The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α.
Kaci A et al.
Scientific Reports, 2018
Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.
P S et al.
Plos One, 2017
Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.
Horikawa Y et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2014
Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.
Jeannot E et al.
Diabetes, 2010
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
HNF-1alpha and endodermal transcription factors cooperatively activate Fabpl: MODY3 mutations abrogate cooperativity.
Divine JK et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2003
Diabetes mutations delineate an atypical POU domain in HNF-1alpha.
Chi YI et al.
Molecular Cell, 2002
Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.
Ryffel GU
Journal of Molecular Endocrinology, 2001
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000
Molecular and biochemical analysis of the MODY syndromes.
Winter WE
Pediatric Diabetes, 2000
Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.
Vaxillaire M et al.
The Journal of Biological Chemistry, 1999
[Maturity-onset diabetes of the young associated with mutations in HNF-transcription factors].
Takeda J
Nihon Ika Daigaku Zasshi, 1999
Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.
Yoshiuchi I et al.
Diabetologia, 1999
Liver and kidney function in Japanese patients with maturity-onset diabetes of the young.
Iwasaki N et al.
Diabetes Care, 1998
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
Hattersley AT
Diabetic Medicine : a Journal of the British Diabetic Association, 1998
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
Gragnoli C et al.
Diabetes, 1997
Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Iwasaki N et al.
Diabetes, 1997