|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Six novel mutations in the GCK gene in MODY patients.
|
17204055 |
2007 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.
|
1464666 |
1992 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report three Chinese families with MODY2 and the sequencing of the GCK gene.
|
27269892 |
2016 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
|
17573900 |
2007 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).
|
12442280 |
2002 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
|
19884385 |
2009 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The enzymatic activity and thermal stability of wild-type (WT) GK and several mutant forms associated with maturity-onset diabetes of the young type 2 (MODY-2) were determined by a steady-state kinetic analysis of the purified expressed proteins.
|
10426385 |
1999 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our further study on human GCK sequences identified disproportional GCK amino acid variants in exon 1, while mutations linked to maturity onset diabetes of the young type 2 (MODY2) were disproportionally found in exons 2 through 10.
|
29573377 |
2018 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes.
|
30155490 |
2018 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glucokinase diabetes, also called GCK-MODY or maturity-onset diabetes of the young type 2 (MODY2), is caused by heterozygous mutations in the gene encoding glucokinase (GCK).
|
20337973 |
2010 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).
|
16026363 |
2005 |