Associated Papers
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.
Yavas Abali Z et al.
Endocrine, 2025
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.
Ba T et al.
Clinical Endocrinology, 2024
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
CL-705G: a novel chemical Kir6.2-specific KATP channel opener.
Gando I et al.
Frontiers in Pharmacology, 2023
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
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_edited_annotations_.xlsx › clinvar_KCNJx_0325322
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
Arya VB et al.
European Journal of Endocrinology, 2014
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