Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
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
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Retinal Development and Pathophysiology in Kcnj13 Knockout Mice.
Jiao X et al.
Frontiers in Cell and Developmental Biology, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.
Toms M et al.
Experimental Eye Research, 2019
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
Shahi PK et al.
American Journal of Human Genetics, 2019
G protein-coupled receptors differentially regulate glycosylation and activity of the inwardly rectifying potassium channel Kir7.1.
Carrington SJ et al.
The Journal of Biological Chemistry, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Pattnaik BR et al.
Human Mutation, 2015
A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Khan AO et al.
Ophthalmic Genetics, 2015
Focus on Kir7.1: physiology and channelopathy.
Kumar M et al.
Channels (austin, Tex.), 2014
Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.
Zhang W et al.
American Journal of Physiology. Cell Physiology, 2013
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