Associated Papers
Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.
Pacheco G et al.
Plos One, 2025
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.
Gu H et al.
Genetics in Medicine Open, 2025
41542347 (PubMed )
Supplement: mmc2.xlsx › P_Var_supplementary
The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.
Butnariu LI et al.
International Journal of Molecular Sciences, 2024
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
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants.
Huerta-Saenz L et al.
International Journal of Pediatric Endocrinology, 2018
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Salomon-Estebanez M et al.
Orphanet Journal of Rare Diseases, 2016
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels.
Li JB et al.
The Journal of Biological Chemistry, 2013
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
Ribalet B et al.
Biophysical Journal, 2003
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