Associated Papers
Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
Rajesh V et al.
International Journal of Molecular Sciences, 2025
Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.
Schiabor Barrett KM et al.
Communications Medicine, 2024
39567669 (PubMed )
Supplement: 43856_2024_663_MOESM5_ESM.xlsx › GCK_Supplementary_Data_2
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › GEMME_scores
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
37292969 (PubMed )
Supplement: media-2.xlsx › ddG_1V4S
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › GEMME_scores
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.
Šimčíková D et al.
Scientific Reports, 2017
28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
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
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
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
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