|
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 |
CTD_human |
Identification of 9-cis-retinoic acid as a pancreas-specific autacoid that attenuates glucose-stimulated insulin secretion.
|
21115832 |
2010 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
|
20337973 |
2010 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Considering the lack of knowledge about the pathomorphology of maturity-onset diabetes of the young type 2 (MODY 2), this glucokinase mutant model of reduced total islet and total beta-cell volume provides the opportunity to elucidate the impact of a defective glucokinase on development and maintenance of beta-cell mass and its relevance in MODY 2 patients.
|
19952346 |
2010 |
|
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.
|
19187021 |
2009 |
|
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 |
CLINVAR |
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
|
19790256 |
2009 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.
|
19309449 |
2009 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
|
19564454 |
2009 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
|
19339519 |
2009 |
|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
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 |
CLINVAR |
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
|
18382660 |
2008 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
|
18382660 |
2008 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
|
18399931 |
2008 |
|
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 |
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 |
Biomarker
|
disease |
MGD |
Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations.
|
17353190 |
2007 |