Associated Papers
Anxiety, social responsiveness, and grit among patients with KCNJ11-related neonatal diabetes compared to unaffected siblings.
Desai JM et al.
Acta Diabetologica, 2026
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Nature Communications, 2024
Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Biorxiv : the Preprint Server for Biology, 2024
Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: A narrative review.
Alam KA et al.
Neuroscience and Biobehavioral Reviews, 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
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
Applying amplification refractory mutation system technique to detecting cell-free fetal DNA for single-gene disorders purpose.
Tan Y 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
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.
de Gouveia Buff Passone C et al.
Pediatric Diabetes, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M et al.
Pediatric Diabetes, 2022
Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.
Barash G et al.
Acta Diabetologica, 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
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Insulin: still a miracle after all these years.
Barbetti F et al.
The Journal of Clinical Investigation, 2019
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR et al.
Current Diabetes Reports, 2019
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.
Yoon JS et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P et al.
The Lancet. Diabetes & Endocrinology, 2018
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
Evliyaoğlu O et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
Lanning MS et al.
Pediatric Diabetes, 2018
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Hashimoto Y et al.
Pediatric Diabetes, 2017
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
Globa E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
Carmody D et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Elucidation of the Inhibitory Effect of Phytochemicals with Kir6.2 Wild-Type and Mutant Models Associated in Type-1 Diabetes through Molecular Docking Approach.
Jagadeb M et al.
Genomics & Informatics, 2014
Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion.
Fendler W et al.
Diabetes Care, 2013
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
Kanakatti Shankar R et al.
Pediatric Diabetes, 2013
Metabolic causes of epileptic encephalopathy.
Yu JY et al.
Epilepsy Research and Treatment, 2013
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.
Battaglia D et al.
Pediatric Diabetes, 2012
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
Fraser CS et al.
European Journal of Endocrinology, 2012
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
Vaxillaire M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2012
Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene.
Vendramini MF et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Neonatal diabetes mellitus: a model for personalized medicine.
Greeley SA et al.
Trends in Endocrinology and Metabolism: Tem, 2010
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 2010
KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.
Khadilkar VV et al.
Indian Journal of Pediatrics, 2010
The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue.
Shimomura K et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2010
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus.
Ting WH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
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
DEND mutation in Kir6.2 (KCNJ11) reveals a flexible N-terminal region critical for ATP-sensing of the KATP channel.
Koster JC et al.
Biophysical Journal, 2008
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
Della Manna T et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J et al.
Pediatric Diabetes, 2008
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
Koster JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
[Neonatal diabetes mellitus].
Gurgel LC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function.
Gurgel LC et al.
Diabetes Care, 2007