Associated Papers
HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.
Haque E et al.
Genes, 2022
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 2021
Functional analyses of the mutation nt-128 T→G in the hepatocyte nuclear factor-1α promoter region in Chinese diabetes pedigrees.
Fang Q et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2012
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
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.
Ellard S et al.
Human Mutation, 2006
Oligonucleotide chip for the diagnosis of HNF-1 alpha mutations.
Park HG et al.
Biosensors & Bioelectronics, 2005
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay.
Harries LW et al.
Diabetes, 2004
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
Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.
Cervin C et al.
Diabetologia, 2002
Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations.
Thomas H et al.
Biological Chemistry, 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
Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1alpha (maturity-onset diabetes of the young-3) mutations.
Vaxillaire M et al.
European Journal of Endocrinology, 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
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
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Vaxillaire M et al.
Human Molecular Genetics, 1997