Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.
Cheng M et al.
Pediatric Diabetes, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The cellular pathways that maintain the quality control and transport of diverse potassium channels.
Nguyen NH et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 2023
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.
Lee CT et al.
Frontiers in Endocrinology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
Wieland I et al.
Frontiers in Endocrinology, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Galcheva S et al.
Frontiers in Endocrinology, 2019
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
Kalish JM et al.
Journal of Medical Genetics, 2016
Molecular mechanisms of congenital hyperinsulinism.
Rahman SA et al.
Journal of Molecular Endocrinology, 2015
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.
Taneja TK et al.
Human Molecular Genetics, 2009
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE et al.
Human Mutation, 2009
Trafficking of ATP-sensitive potassium channels in health and disease.
Sivaprasadarao A et al.
Biochemical Society Transactions, 2007
Rapid genetic analysis in congenital hyperinsulinism.
Christesen HB et al.
Hormone Research, 2007