Associated Papers
Bioactive lipid-mediated structural and functional regulation of the essential human potassium channel Kir7.1.
Niu Q et al.
Nature Communications, 2026
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
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 genetics and disease mechanisms of rhegmatogenous retinal detachment.
Govers BM et al.
Progress in Retinal and Eye Research, 2023
Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy.
Kabra M et al.
The Journal of Clinical Investigation, 2023
Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration.
Ashkenazy N et al.
Ophthalmic Genetics, 2023
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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
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
Kir7.1 disease mutant T153I within the inner pore affects K+ conduction.
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
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.
Ong Tone S et al.
Progress in Retinal and Eye Research, 2021
Altered phosphatidylinositol regulation of mutant inwardly rectifying K+ Kir7.1 channels associated with inherited retinal degeneration disease.
Vera E et al.
The Journal of Physiology, 2021
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
Late onset obesity in mice with targeted deletion of potassium inward rectifier Kir7.1 from cells expressing the melanocortin-4 receptor.
Anderson EJP et al.
Journal of Neuroendocrinology, 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 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
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
Pattnaik BR et al.
Plos One, 2013
The genetics of Fuchs' corneal dystrophy.
Iliff BW et al.
Expert Review of Ophthalmology, 2012
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
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
The molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 2010
[Databases for mutations in human diseases].
Minoshima S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
Channelopathies linked to plasma membrane phosphoinositides.
Logothetis DE et al.
Pflugers Archiv : European Journal of Physiology, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
Kawamura T et al.
Human Mutation, 2010
Inwardly rectifying potassium channels: their structure, function, and physiological roles.
Hibino H et al.
Physiological Reviews, 2010
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
Hejtmancik JF et al.
American Journal of Human Genetics, 2008