Condition: Maturity onset diabetes mellitus in young


rs144723656 in LOC105375258;GCK gene and Maturity onset diabetes mellitus in young PMID 10753050 2000 A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

PMID 15277402 2004 Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

PMID 29284910 2017 Virtual Screening and Prediction of Binding of Caprine CSN1S2 Protein Tryptic Peptides to Glucokinase.

PMID 28842611 2017 Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27080136 2016 Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.

PMID 12627330 2003 Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.

PMID 25306193 2014 Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

PMID 9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 10525657 1999 Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

PMID 10426385 1999 Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype.

PMID 25414397 2014 Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

PMID 22389783 2011 GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

PMID 17079173 2007 Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada.

PMID 25555642 2015 Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

PMID 12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

PMID 21831042 2011 Mutational analysis of allosteric activation and inhibition of glucokinase.

PMID 24578721 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).

PMID 22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

PMID 21921030 2011 Generation of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators.