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
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
A clinical mutation in glucokinase causing maturity-onset diabetes in the young type 2 increases enzyme activity.
Aránguiz O et al.
Febs Letters, 2023
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 2023
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
Harsunen M et al.
Diabetologia, 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
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y et al.
Endocrine Connections, 2020
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.
Wang Z et al.
Journal of Diabetes Investigation, 2019
Monogenic Forms of Diabetes Mellitus.
Gaál Z et al.
Experientia Supplementum (2012), 2019
Preliminary screening of mutations in the glucokinase gene of Chinese patients with gestational diabetes.
Wang Z et al.
Journal of Diabetes Investigation, 2018
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
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.
Haliloglu B et al.
Clinical Endocrinology, 2016
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.
Oriola J et al.
Jimd Reports, 2015
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
Negahdar M et al.
Molecular and Cellular Endocrinology, 2014
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
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
Sagen JV et al.
Pediatric Diabetes, 2008
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
Gloyn AL et al.
Biochemical Society Transactions, 2008
RNA processing and mRNA surveillance in monogenic diabetes.
Locke JM et al.
Gene Regulation and Systems Biology, 2008
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
Gloyn AL et al.
The Journal of Biological Chemistry, 2005
Glucokinase and glucose homeostasis: proven concepts and new ideas.
Zelent D et al.
Biochemical Society Transactions, 2005
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Human Mutation, 2003
Diagnosis of MODY in the offspring of parents with insulin-dependent and non-insulin-dependent diabetes mellitus.
Guazzarotti L et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2001