Associated Papers
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
GCK Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis.
Su C et al.
Pediatric Health, Medicine and Therapeutics, 2025
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 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
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
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Yorifuji T et al.
Journal of Diabetes Investigation, 2023
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
Elashi AA et al.
International Journal of Molecular Sciences, 2022
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
When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
Üstay Ö et al.
Archives of Endocrinology and Metabolism, 2022
Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.
Jiang F et al.
Frontiers in Endocrinology, 2021
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Glotov OS et al.
Molecular Medicine Reports, 2019
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
Yorifuji T et al.
Pediatric Diabetes, 2018
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
Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
Capuano M et al.
Plos One, 2012
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.
Lukášová P et al.
Physiological Research, 2008
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
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
Thomson KL et al.
Human Mutation, 2003
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
Ellard S et al.
Diabetologia, 2000
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Hattersley AT et al.
Nature Genetics, 1998
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.
Matyka KA et al.
Archives of Disease in Childhood, 1998
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
Hattersley AT
Diabetic Medicine : a Journal of the British Diabetic Association, 1998