Associated Papers
Structure of the Ion Channel Kir7.1 and Implications for its Function in Normal and Pathophysiologic States.
Peisley A et al.
Biorxiv : the Preprint Server for Biology, 2024
The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Hernandez CC et al.
American Journal of Physiology. Cell Physiology, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Schroeder M et al.
Ophthalmic Genetics, 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_original_annotations_.xlsx › clinvar_result-6
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Sergouniotis PI et al.
American Journal of Human Genetics, 2011
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