Associated Papers
EZH2 loss promotes gastric squamous cell carcinoma.
Zhang M et al.
Nature Communications, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report.
Katte JC et al.
Journal of Medical Case Reports, 2024
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
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
Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress.
Chen Y et al.
International Journal of Molecular Sciences, 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
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
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth.
Sujjitjoon J et al.
Biochemical and Biophysical Research Communications, 2020
HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report.
Plengvidhya N et al.
World Journal of Diabetes, 2019
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
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
Tatsi C et al.
Pediatric Diabetes, 2013
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
Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.
Lu P et al.
Biochemistry, 2007
PAX4 mutations in Thais with maturity onset diabetes of the young.
Plengvidhya N et al.
The Journal of Clinical Endocrinology and 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
Mutant HNF-1alpha and mutant HNF-1beta identified in MODY3 and MODY5 downregulate DPP-IV gene expression in Caco-2 cells.
Gu N et al.
Biochemical and Biophysical Research Communications, 2006
Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC.
Zucman-Rossi J et al.
Hepatology (baltimore, Md.), 2006
Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.
Bjørkhaug L et al.
Dna and Cell Biology, 2005
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
Johansen A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Effect of mutations in HNF-1alpha and HNF-1beta on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells.
Gu N et al.
Biochemical and Biophysical Research Communications, 2004
Identification of three new mutations of the HNF-1 alpha gene in Japanese MODY families.
Ikema T et al.
Diabetologia, 2002
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
[Maturity-onset diabetes of the young associated with mutations in HNF-transcription factors].
Takeda J
Nihon Ika Daigaku Zasshi, 1999
Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.
Yamada S et al.
Diabetes, 1999