Associated Papers
Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Yu F et al.
Chinese Medical Journal, 2025
40178110 (PubMed )
Supplement: cm9-138-1129-s001.pdf
Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
Elangeeb ME et al.
Molecules (basel, Switzerland), 2024
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
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 2022
34714908 (PubMed )
Supplement: advancesADV2021005486-suppl6.xlsx › Variants
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center.
Rasmussen AG et al.
Pediatric Diabetes, 2020
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E et al.
Human Mutation, 2020
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.
Boodhansingh KE et al.
American Journal of Medical Genetics. Part A, 2019
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