Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GCK-MODY). Over 600 GCK mutations have been reported of which (approx)65% are missense. In many cases co-segregation has not been established and despite the importance of functional studies in ascribing pathogenicity for missense variants these have only been performed for <10% of mutations. The aim of this study was to determine the minimum prevalence of GCK-MODY amongst diabetic subjects in Slovakia by sequencing GCK in 100 Slovakian probands with a phenotype consistent with GCK-MODY and to explore the pathogenicity of identified variants through family and functional studies. Twenty-two mutations were identified in 36 families (17 missen...
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function...
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the r...
Glucokinase (GCK) serves as the pancreatic glucose sensor. Heterozygous inactivating GCK mutations c...
Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GC...
<div><p>Heterozygous glucokinase (<em>GCK</em>) mutations cause a subtype of maturity-onset diabetes...
8 pages, 4 figures, 3 tables.Glucokinase acts as the pancreatic glucose sensor and plays a critical ...
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized b...
Background: Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes ...
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized b...
Maturity-onset diabetes of the young (MODY) resulting from mutations in the glucokinase (GCK) gene a...
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the r...
Glucokinase functions as a glucose sensor in pancreatic beta-cells and regulates hepatic glucose met...
Glucokinase is essential for glucose-stimulated insulin release from the pancreatic -cell, serving a...
Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes ...
OBJECTIVE — To evaluate the heterogeneity in the clinical expression in a family with glucokinase ma...
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function...
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the r...
Glucokinase (GCK) serves as the pancreatic glucose sensor. Heterozygous inactivating GCK mutations c...
Heterozygous glucokinase (GCK) mutations cause a subtype of maturity-onset diabetes of the young (GC...
<div><p>Heterozygous glucokinase (<em>GCK</em>) mutations cause a subtype of maturity-onset diabetes...
8 pages, 4 figures, 3 tables.Glucokinase acts as the pancreatic glucose sensor and plays a critical ...
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized b...
Background: Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes ...
Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized b...
Maturity-onset diabetes of the young (MODY) resulting from mutations in the glucokinase (GCK) gene a...
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the r...
Glucokinase functions as a glucose sensor in pancreatic beta-cells and regulates hepatic glucose met...
Glucokinase is essential for glucose-stimulated insulin release from the pancreatic -cell, serving a...
Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes ...
OBJECTIVE — To evaluate the heterogeneity in the clinical expression in a family with glucokinase ma...
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function...
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the r...
Glucokinase (GCK) serves as the pancreatic glucose sensor. Heterozygous inactivating GCK mutations c...