ReviewReviews in endocrine & metabolic disorders2010
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Review in Reviews in endocrine & metabolic disorders, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed.
- Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2026Article
- Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.International journal of molecular sciences · 2024Review
- Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature.World journal of diabetes · 2024Article
- Potential pathogenetic role of a novel ABCC8 missense variant on both transient neonatal diabetes mellitus and fetal growth restriction: a case report.Molecular biology reports · 2024Article
- The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.Journal of personalized medicine · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.Annals of pediatric endocrinology & metabolism · 2022Article
- Early Effects of Metabolic Syndrome on ATP-Sensitive Potassium Channels from Rat Pancreatic Beta Cells.Metabolites · 2022Article
- Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.Genes · 2022Review
- Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Enriched Alternative Splicing in Islets of Diabetes-Susceptible Mice.International journal of molecular sciences · 2021Article
- The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.Journal of personalized medicine · 2021Article
- Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-TreatedDiabetes care · 2021Article
- Kir6.2-D323 and SUR2A-Q1336: an intersubunit interaction pairing for allosteric information transfer in the KATP channel complex.The Biochemical journal · 2020Article
- Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice.Wellcome open research · 2020Article
- Postnatal growth of Infants with neonatal diabetes: insulin pump (CSII) versus Multiple Daily Injection (MDI) therapy.Acta bio-medica : Atenei Parmensis · 2019Article
- The pore-forming subunit Kir6.1 of the K-ATP channel negatively regulates the NLRP3 inflammasome to control insulin resistance by interacting with NLRP3.Experimental & molecular medicine · 2019Article
- Precision medicine for a man presented with diabetes at 2-month old.European journal of human genetics : EJHG · 2019Article
- Ion Transporters, Channelopathies, and Glucose Disorders.International journal of molecular sciences · 2019Review
- The Role ofFrontiers in endocrinology · 2018Article
Corrections and comments
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Authors and funding
3 authors.
Funding
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Abstract
The ATP-sensitive potassium (K(ATP)) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of permanent neonatal diabetes cases. The majority of patients with a K(ATP) mutation present with isolated diabetes however some have presented with the Developmental delay, Epilepsy and Neonatal Diabetes syndrome. This review focuses on mutations in the K(ATP) channel which result in permanent neonatal diabetes, we review the clinical and functional effects as well as the implications for treatment.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.