Associated Papers
Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.
Gao J et al.
The Journal of Pharmacology and Experimental Therapeutics, 2023
Kir6.1 and SUR2B in Cantú syndrome.
McClenaghan C et al.
American Journal of Physiology. Cell Physiology, 2022
KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling.
Ando K et al.
Developmental Cell, 2022
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Apuril Velgara ES et al.
American Journal of Medical Genetics. Part A, 2022
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
Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
Sung MW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.
Chihara M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Computational Identification of Novel Kir6 Channel Inhibitors.
Chen X et al.
Frontiers in Pharmacology, 2019
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
Cooper PE et al.
The Journal of Biological Chemistry, 2017
Electrophysiological analyses of transgenic mice overexpressing KCNJ8 with S422L mutation in cardiomyocytes.
Watanabe Y et al.
Journal of Pharmacological Sciences, 2017
Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
Cooper PE et al.
Human Mutation, 2014
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