Associated Papers
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
Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.
Rout M et al.
Communications Medicine, 2025
Case Report: Challenges of insulin and sulfonylurea dosing in an extremely premature infant for the management of KCNJ11-associated neonatal diabetes mellitus.
Perera I et al.
Frontiers in Pediatrics, 2025
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.
Ba T et al.
Clinical Endocrinology, 2024
Challenges in diagnosis and treatment of KCNJ11-MODY.
Gonçalves J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
Elangeeb ME et al.
Molecules (basel, Switzerland), 2024
Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.
Chen Y et al.
Journal of Diabetes, 2024
Early-onset diabetes in Africa: A mini-review of the current genetic profile.
Adadey SM et al.
European Journal of Medical Genetics, 2023
MODY in China: two families carrying the KCNJ11 E229K variant.
Xiao B et al.
Acta Diabetologica, 2023
Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Li M et al.
Reviews in Endocrine & Metabolic Disorders, 2023
Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring.
Lee MY et al.
Case Reports in Endocrinology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.
Abdelmeguid Y et al.
Annals of Pediatric Endocrinology & Metabolism, 2022
Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.
Memon B et al.
Stem Cells Translational Medicine, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes.
Lyra A et al.
Archives of Endocrinology and Metabolism, 2022
Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.
Wang Z et al.
Frontiers in Pharmacology, 2022
A novel mutation KCNJ11 R136C caused KCNJ11-MODY.
Chen Y et al.
Diabetology & Metabolic Syndrome, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.
Gaál Z et al.
Life (basel, Switzerland), 2021
100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.
Ikle JM et al.
The Journal of Endocrinology, 2021
Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.
Marchand L et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S et al.
Pediatric Diabetes, 2021
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B et al.
Journal of Diabetes, 2021
Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements.
Braverman-Gross C et al.
Frontiers in Endocrinology, 2021
Treatment Options for MODY Patients: A Systematic Review of Literature.
Delvecchio M et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes.
Devaraja J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire M et al.
Current Diabetes Reports, 2019
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Firdous P et al.
Frontiers in Endocrinology, 2018
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Hashimoto Y et al.
Pediatric Diabetes, 2017
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.
Griscelli F et al.
Stem Cell Research, 2017
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
Song J et al.
Bmc Medical Genetics, 2017
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.
Kamoun T et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.
Ferrari A et al.
Nature Communications, 2016
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Vedovato N et al.
Diabetologia, 2016
Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.
Taberner P et al.
Diabetes Research and Clinical Practice, 2016
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11).
Martins L et al.
Clinical Case Reports, 2015
Maturity-onset diabetes of the young (MODY): an update.
Anık A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
The promise of whole-exome sequencing in medical genetics.
Rabbani B et al.
Journal of Human Genetics, 2014
Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.
Liu L et al.
Diabetologia, 2013
Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.
Lin YW et al.
Plos One, 2013