|
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).
|
9078243 |
1997 |
|
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 |
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of a total of 13 new lines confirmed by heritability testing, we identified two semi-dominant pedigrees with novel missense mutations (Gck(K140E) and Gck(P417R)) in the gene encoding glucokinase (Gck), the mammalian glucose sensor that is mutated in human maturity onset diabetes of the young type 2 and the target of emerging anti-hyperglycemic agents that function as glucokinase activators (GKAs).
|
21921030 |
2011 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
BEFREE |
Recombinant adenoviruses expressing the human wild-type islet GK or one of four mutant forms of GK, (the MODY-2 mutants E70K, E300K and V203A and the GK-HI mutant V455M) were transduced into glucose-responsive insulin-secreting beta-HC9 cells and tested functionally in order to initiate the first analysis in vivo of recombinant wild-type and mutant human islet GK.
|
10455021 |
1999 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
GCK mutations are known as a pathogenic cause of maturity-onset diabetes of the young type 2 (MODY2).
|
18271687 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.
|
20015564 |
2010 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In conclusion, this novel GCK mutant rabbit generated with the CRISPR/Cas9 system mimics most, if not all, histopathological and functional defects seen in MODY-2 patients such as hyperglycemia and will be a valuable rabbit model for preclinical studies and drug screening for diabetes as well as for studying the pathophysiological role of glucokinase.
|
31720743 |
2019 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
|
23433541 |
2013 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Between 2006 and 2010, we investigated GCK mutations in 66 diabetic children from southern Italy with suspected MODY2.
|
22761713 |
2012 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To determine whether stem cell-derived β cells recapitulate molecular-physiological phenotypes of a diabetic subject, we generated induced pluripotent stem cells (iPSCs) from subjects with maturity-onset diabetes of the young type 2 (MODY2), which is characterized by heterozygous loss of function of the gene encoding glucokinase (GCK).
|
23778137 |
2013 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucokinase (GK) gene result in Maturity Onset Diabetes of the Young type 2 (MODY 2) and are associated with lower birthweight.
|
15918042 |
2005 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened exons 7, 8 and 9, which are specific for pancreatic glucokinase, for mutations at positions 682A>G, p.T228A; 895G>C, p.G299R, and 1148C>A, p.S383X, respectively, in 250 subjects (100 patients suspected to have MODY2 and 150 healthy controls without family history of diabetes mellitus).
|
19551638 |
2009 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene and is characterized by mild noninsulin-dependent fasting hyperglycemia.
|
23155715 |
2012 |