Associated Papers
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature 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
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
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Stalbow LA et al.
Diabetologia, 2023
Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.
Kavitha B et al.
Frontiers in Endocrinology, 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
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 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
HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions.
Fareed FMA et al.
The Protein Journal, 2021
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
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
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
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
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
Estrada K et al.
Jama, 2014
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
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
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.
Bjørkhaug L et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis.
Xu JY et al.
Diabetologia, 2002
MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X).
Bjørkhaug L et al.
Biochemical and Biophysical Research Communications, 2000
When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.
Althari S et al.
The Review of Diabetic Studies : Rds, 0