Associated Papers
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
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
Monogenic diabetes: the impact of making the right diagnosis.
Harris AG et al.
Current Opinion in Pediatrics, 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
Genetic Factors of Diabetes.
Antosik K et al.
Archivum Immunologiae Et Therapiae Experimentalis, 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
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion.
Fendler W et al.
Diabetes Care, 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
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
Vaxillaire M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2012
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
Männikkö R et al.
The Journal of Physiology, 2011
Neonatal diabetes mellitus: a model for personalized medicine.
Greeley SA et al.
Trends in Endocrinology and Metabolism: Tem, 2010
Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation.
Gach A et al.
Diabetes Research and Clinical Practice, 2009
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
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.
Mlynarski W et al.
Nature Clinical Practice. Neurology, 2007
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