Associated Papers
Clinical Characteristics of Patients With Less Common Causes of Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
Balbirsingh V et al.
American Journal of Ophthalmology, 2025
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Heutinck PAT et al.
Scientific Reports, 2025
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 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
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 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
A novel Kir7.1 splice variant expressed in various mouse tissues shares organisational and functional properties with human Leber amaurosis-causing mutations of this K+ channel.
Vera E et al.
Biochemical and Biophysical Research Communications, 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
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
CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
Zhong H et al.
Scientific Reports, 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
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