Associated Papers
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
The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia.
Dastamani A et al.
Hormone Research in Paediatrics, 2019
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
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
Investigation of the molecular assembly of beta-cell K(ATP) channels.
Mikhailov MV et al.
Febs Letters, 2000
Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2.
Tucker SJ et al.
The Journal of Biological Chemistry, 1999
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