Associated Papers
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.
Schiabor Barrett KM et al.
Communications Medicine, 2024
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.
Butnariu LI et al.
International Journal of Molecular Sciences, 2024
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Şimşek E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.
Schwitzgebel VM et al.
Frontiers in Medicine, 2024
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
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.
Ivanoshchuk D et al.
Journal of Personalized Medicine, 2023
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Optimizing maturity-onset diabetes of the young detection in a pediatric diabetes population.
Menon S et al.
Pediatric Diabetes, 2022
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.
Abreu GM et al.
Frontiers in Endocrinology, 2022
A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.
Gaál Z et al.
Life (basel, Switzerland), 2021
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2021
Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation.
Johansson BB et al.
Molecular and Cellular Endocrinology, 2017
Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.
Šimčíková D et al.
Scientific Reports, 2017
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
A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
Giuffrida FM et al.
Diabetes Research and Clinical Practice, 2013
Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.
Stanik J et al.
Endocrine Regulations, 2012
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
Borowiec M et al.
Clinical Genetics, 2012
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Valentínová L et al.
Plos One, 2012
HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults.
Fendler W et al.
Clinical Endocrinology, 2011
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK et al.
Human Mutation, 2009
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I et al.
Clinical Endocrinology, 2007