Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.
Wu HX et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 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
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y et al.
Endocrine Connections, 2020
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
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 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
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A et al.
Human Molecular Genetics, 2014
Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.
Kawakita R et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2014
Clinical utility gene card for: Maturity-onset diabetes of the young.
Colclough K et al.
European Journal of Human Genetics : Ejhg, 2014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 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
Ancestral mutations may cause a significant proportion of GCK-MODY.
Dusatkova P et al.
Pediatric Diabetes, 2012
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
Pruhova S et al.
Pediatric Diabetes, 2010
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.
Lukášová P et al.
Physiological Research, 2008
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.
Feigerlová E et al.
European Journal of Pediatrics, 2006
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
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.
Pruhova S et al.
Diabetologia, 2003