Associated Papers
HLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics.
Chen Y et al.
Diabetes & Metabolism, 2026
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
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.
Sanri A et al.
Pediatric Diabetes, 2025
Precision therapy for Developmental delay, Epilepsy and Neonatal Diabetes syndrome in the era of genomics.
Badal S et al.
Medical Journal, Armed Forces India, 2024
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.
Ba T et al.
Clinical Endocrinology, 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
[Monogenic diabetes due to mutation in the KCNJ11 gene].
Simón Frapolli VJ et al.
Medicina Clinica, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N et al.
The Journal of Clinical Endocrinology and Metabolism, 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
MODY in China: two families carrying the KCNJ11 E229K variant.
Xiao B et al.
Acta Diabetologica, 2023
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 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
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.
Song X et al.
Medicine, 2022
Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series.
Maltoni G et al.
Journal of Personalized 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
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
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
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.
Bonfanti R et al.
European Journal of Endocrinology, 2021
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB et al.
Frontiers in Endocrinology, 2021
Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus.
Nicolaides NC et al.
Critical Reviews in Clinical Laboratory Sciences, 2020
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
Lin Y et al.
Bmj Open Diabetes Research & Care, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome.
Dahl AR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.
Shepherd M et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2017
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.
Delvecchio M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus.
Kylat RI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
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
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China.
Cao B et al.
Journal of Diabetes Research, 2016
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
Globa E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes.
Myngheer N et al.
Diabetes Care, 2014
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
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.
Iafusco D et al.
Acta Diabetologica, 2012
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE et al.
Human Mutation, 2009
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J et al.
Pediatric Diabetes, 2008
[Neonatal diabetes mellitus and KCNJ11 gene mutation: report of a family case].
Orío Hernández M et al.
Anales De Pediatria (barcelona, Spain : 2003), 2008
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
Lin YW et al.
The Journal of Biological Chemistry, 2008
Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene.
Gach A et al.
Diabetes Care, 2007
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Flanagan SE et al.
Diabetes, 2007
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
Rica I et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2007