Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 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
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
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.
Salina A et al.
International Journal of Molecular Sciences, 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
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
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
Caswell RC et al.
Clinical Chemistry, 2020
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
Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes.
Chakera AJ et al.
Molecular Metabolism, 2018
iPSC-derived β cells model diabetes due to glucokinase deficiency.
Hua H et al.
The Journal of Clinical Investigation, 2017
Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes.
Lopez AP et al.
Diabetes Research and Clinical Practice, 2016
Robust classification of protein variation using structural modelling and large-scale data integration.
Baugh EH et al.
Nucleic Acids Research, 2016
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes.
Gandica RG et al.
Pediatric Diabetes, 2015
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
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
iPSC-derived β cells model diabetes due to glucokinase deficiency.
Hua H et al.
The Journal of Clinical Investigation, 2013
Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness.
Pruhova S et al.
International Journal of Endocrinology, 2013
Ancestral mutations may cause a significant proportion of GCK-MODY.
Dusatkova P et al.
Pediatric Diabetes, 2012
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
Thanabalasingham G et al.
Diabetes Care, 2012
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
Borowiec M et al.
Clinical Genetics, 2012
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK et al.
Human Mutation, 2009
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients.
Khalil R et al.
Genetics and Molecular Research : Gmr, 2009
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.
Lukášová P et al.
Physiological Research, 2008
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
Vits L et al.
Clinical Genetics, 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
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
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Hattersley AT et al.
Nature Genetics, 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
Glucokinase deficiency results in a beta-cell disorder characterised by normal fasting plasma proinsulin concentrations.
Hattersley AT et al.
Diabetologia, 1997
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Velho G et al.
Diabetologia, 1997
Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm.
Matschinsky FM
Diabetes, 1996
Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.
St Charles R et al.
Diabetes, 1994
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
Gidh-Jain M et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Stoffel M et al.
Nature Genetics, 1992
Characterization of glucokinase polymorphisms associated with maturity-onset diabetes of the young (MODY2) in Jordanian population.
Al-Sheyab F et al.
Tsitologiia I Genetika, 0
When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.
Althari S et al.
The Review of Diabetic Studies : Rds, 0