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
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
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
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
Expression and function of ATP-dependent potassium channels in zebrafish islet β-cells.
Emfinger CH et al.
Royal Society Open Science, 2017
28386438 (PubMed )
Supplement: rsos160808supp2.docx
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
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
Suchi M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2006
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
Henwood MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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