Associated Papers
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
Rajesh V et al.
International Journal of Molecular Sciences, 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
Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-income Country
Kumarasiri IM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
Early-onset diabetes in Africa: A mini-review of the current genetic profile.
Adadey SM et al.
European Journal of Medical Genetics, 2023
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
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.
Wu HX et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Yorifuji T et al.
Journal of Diabetes Investigation, 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
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 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
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 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
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients.
Liu L et al.
Metabolism: Clinical and Experimental, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Santana LS et al.
Clinical Genetics, 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
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Valentínová L et al.
Plos One, 2012
Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
Capuano M et al.
Plos One, 2012
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
Pruhova S et al.
Pediatric Diabetes, 2010
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
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
Thomson KL et al.
Human Mutation, 2003
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.
Mantovani V et al.
Human Mutation, 2003
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
Barrio R et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
Hattersley AT
Diabetic Medicine : a Journal of the British Diabetic Association, 1998
Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).
Kesavan P et al.
The Biochemical Journal, 1997
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Velho G et al.
Diabetologia, 1997
Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm.
Matschinsky FM
Diabetes, 1996
Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
Takeda J et al.
The Journal of Biological Chemistry, 1993