Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
The prevalence of GCK variants indicates that diagnostics of monogenic diabetes in Russian children may begin with testing for MODY2.
|
31638168 |
2019 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This included simulating GK gene (GCK) mutations that cause monogenic diabetes.
|
31753287 |
2019 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
|
31063852 |
2019 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes.
|
30086370 |
2018 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than GCK -MODY.
|
28436179 |
2018 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management.
|
29758564 |
2018 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Post-hoc analysis revealed significant differences in mean glucose to creatinine ratio change between type 2 diabetes and each monogenic diabetes in response to dapagliflozin (p = 0.02, p = 0.003 for HNF1-A and GCK MODY, respectively), but not between the two MODY forms (p = 0.7231).
|
28593615 |
2017 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we validated and improved their specificity by performing a comprehensive bioinformatics analysis combined with experimental and clinical data on a model of glucokinase (GCK): 8835 putative variations, including 515 disease-associated variations from 1596 families with diagnoses of monogenic diabetes (GCK-MODY) or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), and 126 variations with available or newly reported (19 variations) data on enzyme kinetics.
|
28842611 |
2017 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GCK gene lead to different forms of glucokinase (GCK)-disease, activating mutations cause hyperinsulinaemic hypoglycaemia while inactivating mutations cause monogenic diabetes.
|
28247534 |
2017 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c.
|
26109503 |
2016 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Even though common recommendations regarding the diagnosis of monogenic diabetes include the existence of a strong family history of diabetes, here we describe the study of mutations in two families with a symptomatic individual with clear clinical features of MODY2 but without any family history of diabetes.
|
27289208 |
2016 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
We sought to determine clinical criteria that could optimally identify candidates for genetic testing of two common forms of MD that alter therapy: glucokinase (GCK) and hepatocyte nuclear factor 1 alpha (HNF1α).
|
25082184 |
2015 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Glucokinase related maturity-onset diabetes of the young (GCK-MODY) is a form of monogenic diabetes characterized by mildly elevated fasting blood sugars and HbA(1c) typically ranging from 38 to 60 mmol/mol (5.6-7.6%).
|
25494859 |
2015 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds.
|
26043405 |
2015 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
|
25015100 |
2014 |
Monogenic diabetes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of type 2 diabetes.
|
24550216 |
2014 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes and 395 with type 1 diabetes (T1DM), in whom we genotyped 2 SNPs in G6PC2 (rs560887) and GCKR (rs1260326).
|
24918535 |
2014 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations (GCK-MODY) and correlated the genotypes with HbA(1c) levels.
|
22486180 |
2012 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD.
|
22782286 |
2012 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
|
22493702 |
2012 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
|
21348868 |
2012 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucokinase gene (GCK) account for many cases of monogenic diabetes featuring maturity-onset diabetes of the young type 2 (MODY2).
|
23295287 |
2012 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
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 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although the literature indicates that ancestral mutations in the glucokinase (GCK) gene are rare, we have detected a high frequency of four prevalent mutations that together are responsible for over one third of the GCK mutations in our Czech National Register of monogenic diabetes.
|
22332836 |
2012 |
Monogenic diabetes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.
|
22035297 |
2012 |