A NovelKCNJ13Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

Focus on Kir7.1: physiology and channelopathy

(2015) Mohit Kumar et al.   Channels

CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes

(2015) Hua Zhong et al.   Scientific Reports

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from RecessiveKCNJ13Mutations

(2014) Arif O. Khan et al.   OPHTHALMIC GENETICS

Snowflake Vitreoretinal Degeneration (SVD) Mutation R162W Provides New Insights into Kir7.1 Ion Channel Structure and Function

(2013) Bikash R. Pattnaik et al.   PLoS One

Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy

(2012) Wei Zhang et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Gene therapy for Leber congenital amaurosis: advances and future directions

(2012) Robert B. Hufnagel et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA

(2012) Anne Louise Askou et al.   JOURNAL OF GENE MEDICINE

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

(2011) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic defects in the hotspot of inwardly rectifying K+ (Kir) channels and their metabolic consequences: A review

(2011) Bikash R. Pattnaik et al.   MOLECULAR GENETICS AND METABOLISM

MicroRNA-204/211 alters epithelial physiology

(2010) Fei E. Wang et al.   FASEB JOURNAL

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

(2008) J. Fielding Hejtmancik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interpretation of Outer Retina Appearance in High-resolution Optical Coherence Tomography

(2008) Suk Ho Byeon et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Expression of inwardly rectifying potassium channel subunits in native human retinal pigment epithelium

(2008) Dongli Yang et al.   EXPERIMENTAL EYE RESEARCH

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium

(2007) Dongli Yang et al.   EXPERIMENTAL EYE RESEARCH