Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › fasting_glucose
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
36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands
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
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.
Langer S et al.
Diabetologia, 2021
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
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
Gloyn AL et al.
Diabetologia, 2009
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
Gloyn AL et al.
Biochemical Society Transactions, 2008
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.
Lukášová P et al.
Physiological Research, 2008
Select a paper to view details