|
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 |
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 |
CLINVAR |
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.
|
30592380 |
2019 |
|
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 |
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 |
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 |
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 |
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 |
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents.
|
25182307 |
2014 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.
|
24430320 |
2014 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.
|
23295292 |
2012 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
|
22820548 |
2012 |
|
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 |
UNIPROT |
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
|
22611063 |
2012 |
|
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 |
|
Diabetes mellitus autosomal dominant type II (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Heterozygous mutations in the human GK-encoding GCK gene that reduce the activity index increase the glucose-stimulated insulin secretion threshold and cause familial, mild fasting hyperglycaemia, also known as Maturity Onset Diabetes of the Young type 2 (MODY2).
|
22291974 |
2012 |
|
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 |
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 |
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 |