Associated Papers
Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY
Kayaş L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Yu F et al.
Chinese Medical Journal, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.
Cho J et al.
International Journal of Molecular Sciences, 2023
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Relationship between AGT rs2493132 polymorphism and the risk of coronary artery disease in patients with NAFLD in the Chinese Han population.
Dong M et al.
The Journal of International Medical Research, 2021
Localized increases in CEPT1 and ATGL elevate plasmalogen phosphatidylcholines in HDLs contributing to atheroprotective lipid profiles in hyperglycemic GCK-MODY.
Wang X et al.
Redox Biology, 2021
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y et al.
Endocrine Connections, 2020
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.
Wang Z et al.
Journal of Diabetes Investigation, 2019
GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.
Ping Xiao Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study.
Nakatochi M et al.
Plos One, 2015
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
MODY type 2 P59S GCK mutant: founder effect in South of Italy.
Delvecchio M et al.
Clinical Genetics, 2013
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
Sagen JV et al.
Pediatric Diabetes, 2008
Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.
García-Herrero CM et al.
Diabetologia, 2007
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Human Mutation, 2003
Genetic approaches to common diseases.
Lathrop GM
Current Opinion in Biotechnology, 1993