Associated Papers
Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.
Yoshiji S et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
ABCC8 Missense Variants and Disease: Loss or Gain? This Is the Question.
Barbetti F et al.
Diabetes, 2026
Composite Digenic Diabetes Linked to Heterozygous Variants of <italic>GCK</italic> and <italic>NEUROD1</italic>: A Case Report.
Rapini N et al.
Hormone Research in Paediatrics, 2025
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
Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.
Ding Y et al.
Pediatric Diabetes, 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
Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.
Watanabe D et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM.
Liu J et al.
Diabetology & Metabolic Syndrome, 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 and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 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
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.
Dai T et al.
Frontiers in Genetics, 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
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic.
Al-Kandari H et al.
Scientific Reports, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Recognition of maturity-onset diabetes of the young in China.
Liang H et al.
Journal of Diabetes Investigation, 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
Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
Ding Y et al.
Journal of Diabetes Investigation, 2021
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.
Moalla M et al.
Frontiers in Endocrinology, 2021
Update on Monogenic Diabetes in Korea.
Yang YS et al.
Diabetes & Metabolism Journal, 2020
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y et al.
Endocrine Connections, 2020
Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.
Wang Z et al.
Journal of Diabetes Investigation, 2019
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
Dallali H et al.
Acta Diabetologica, 2019
High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
Zubkova N et al.
Acta Diabetologica, 2019
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd MH et al.
Diabetologia, 2018
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
Yorifuji T et al.
Pediatric Diabetes, 2018
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.
Kleinberger JW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Santana LS et al.
Clinical Genetics, 2017
Glucokinase mutations in pediatric patients with impaired fasting glucose.
Aloi C et al.
Acta Diabetologica, 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
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