Associated Papers
HNF1A-inactived Hepatocellular Adenomas in Fibropolycystic Kidney and Liver Disease Are Associated With Germline HNF1B Variant.
Hagen CE et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Investigating the pathogenicity of the recessive HNF1A p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells.
Cherkaoui I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
Kind L et al.
Jci Insight, 2024
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.
Kickova T et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2024
Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level.
Liang SJ et al.
Yi Chuan = Hereditas, 2024
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P et al.
Diabetologia, 2023
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N et al.
Cell Genomics, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB et al.
The Lancet Regional Health. Europe, 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
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants.
Kind L et al.
The Journal of Biological Chemistry, 2022
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
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
Malikova J et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.
Misra S et al.
Diabetes Care, 2020
New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.
Ma Y et al.
Bmj Open Diabetes Research & Care, 2020
Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic β-cell dysfunction.
Nocera D et al.
Acta Diabetologica, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.
Juszczak A et al.
Diabetes Care, 2019
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
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.
Kleinberger JW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.
Sagen JV et al.
Diabetes Research and Clinical Practice, 2017
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Santana LS et al.
Clinical Genetics, 2017
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
Johansson BB et al.
Diabetologia, 2017
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
Rozenkova K et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Hepatocyte nuclear factor-α genetic mutation in a Chinese pedigree with maturity-onset diabetes of the young (MODY3).
Zhang M et al.
Diabetes/metabolism Research and Reviews, 2015
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
Estrada K et al.
Jama, 2014
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.
Colclough K et al.
Human Mutation, 2013
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Common variants in HNF-1 alpha and risk of type 2 diabetes.
Holmkvist J et al.
Diabetologia, 2006
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.
Bjørkhaug L et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.
Cervin C et al.
Diabetologia, 2002