Associated Papers
Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report.
Niculae AȘ et al.
Pediatric Reports, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_original_annotations_.xlsx › clinvar_result-6
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
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S et al.
Pediatric Diabetes, 2021
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Hashimoto Y et al.
Pediatric Diabetes, 2017
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
Cooper PE et al.
The Journal of Biological Chemistry, 2017
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
Männikkö R et al.
Human Molecular Genetics, 2010
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