Associated Papers
Sulphonylurea efficacy and end-organ outcomes in the management of HNF4A-MODY.
Crowley MT et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2025
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
Kind L et al.
Jci Insight, 2024
38855865 (PubMed )
Supplement: jciinsight-9-175278-s041.pdf
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5
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
36216889 (PubMed )
Supplement: 125_2022_5806_MOESM2_ESM.xlsx › ESM_Table_1
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
34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1
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
Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.
Hilke FJ et al.
Cancers, 2020
32825510 (PubMed )
Supplement: cancers-12-02359-s001.zip › cancers-898298-supplementary › SupplementTable_1-14_20200710.xlsx › Table_S8
Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.
Balamurugan K et al.
Clinical Genetics, 2016
Current approaches to the diagnosis and treatment of white sponge nevus.
Cai W et al.
Expert Reviews in Molecular Medicine, 2015
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
Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.
Radha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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