Associated Papers
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
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
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
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements.
Braverman-Gross C et al.
Frontiers in Endocrinology, 2021
Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research.
Hu M et al.
Frontiers in Endocrinology, 2020
How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [Ca2+] Response.
Dwulet JM et al.
Biophysical Journal, 2019
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
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
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
Estalella I et al.
Journal of Human Genetics, 2008
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Sagen JV et al.
Diabetes, 2006
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 (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Human Mutation, 2003
A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.
Njølstad PR et al.
Acta Paediatrica (oslo, Norway : 1992), 1998