Associated Papers
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
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
40225155 (PubMed )
Supplement: 8857940.f1.pdf
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
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
McTaggart JS et al.
Plos One, 2013
23626843 (PubMed )
Supplement: pone.0062646.s002.pdf
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L et al.
Diabetologia, 2011
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.
Klupa T et al.
Diabetologia, 2005
Select a paper to view details