|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Maturity-onset diabetes of the young, type 2 (MODY2) is caused by mutations in the glucokinase gene (GCK).
|
18399931 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This deleted region included GLI3 and GCK genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes.
|
22043488 |
2011 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase.
|
9867845 |
1999 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
|
22060211 |
2012 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
|
8325892 |
1993 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.
|
24735133 |
2015 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
|
24578721 |
2014 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
This collection of Gk mutants will be valuable for understanding GK gene function, for dissecting the function of the enzyme and as models of human MODY2 and PNDM.
|
15102714 |
2004 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this work, we describe the biochemical characterization of six missense glucokinase mutations associated with MODY2 from Spanish patients, namely, Y61S, V182L, C233R, E265K, A379V, and K420E.
|
18322640 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
|
25015100 |
2014 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
"MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?"
|
11079754 |
2000 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Novel phenotypes identified by plasma biochemical screening in the mouse.
|
12420138 |
2002 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
|
9662401 |
1998 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
|
18248649 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).
|
18411240 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793 G> A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c. 206C> G).
|
23295287 |
2012 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
|
11508276 |
2001 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).
|
31092478 |
2019 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
|
27271189 |
2016 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
|
16965331 |
2006 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
|
14517946 |
2003 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
|
1303265 |
1992 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
|
11508276 |
2001 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Six novel mutations in the GCK gene in MODY patients.
|
17204055 |
2007 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
|
19790256 |
2009 |