Associated Papers
Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
Rajesh V et al.
International Journal of Molecular Sciences, 2025
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
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A et al.
American Journal of Human Genetics, 2023
37421948 (PubMed )
Supplement: mmc1.pdf
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 › abundance_scores
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
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes.
Jiang Y et al.
Molecular and Cellular Biochemistry, 2022
Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation.
Johansson BB et al.
Molecular and Cellular Endocrinology, 2017
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
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
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