Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness-Reference-Cited by-同舟云学术

Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness

Published:2019-02 Issue:2 Volume:104 Page:310-318
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Shahi Pawan K.,Hermans Dalton,Sinha Divya,Brar Simran,Moulton Hannah,Stulo Sabrina,Borys Katarzyna D.,Capowski Elizabeth,Pillers De-Ann M.,Gamm David M.,Pattnaik Bikash R.

Funder

University of Wisconsin Foundation

National Institutes of Health

University of Wisconsin (UW) Vision Core

Retina Research Foundation M. D. Mathews Professorship

McPherson Eye Research Institute Sandra Lemke Trout Chair in Eye Research

Retina Research Foundation Emmett Humble Distinguished Directorship.

Research to Prevent Blindness

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference48 articles.

1. A novel KCNJ13 nonsense mutation and loss of Kir7.1 channel function causes Leber congenital amaurosis (LCA16);Pattnaik;Hum. Mutat.,2015

2. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis;Sergouniotis;Am. J. Hum. Genet.,2011

3. Leber congenital amaurosis with large retinal pigment clumps caused by compound heterozygous mutations in Kcnj13;Perez-Roustit;Retin. Cases Brief Rep.,2017

4. A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations;Khan;Ophthalmic Genet.,2015

5. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration;Hejtmancik;Am. J. Hum. Genet.,2008

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy;Journal of Clinical Investigation;2023-10-02

2. Advances towards personalized therapies for Stargardt disease;Expert Review of Ophthalmology;2023-09-03

3. Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function;Human Genetics;2023-03-25

4. Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies;Current Topics in Developmental Biology;2023

5. Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress–Induced Cell Death;Investigative Opthalmology & Visual Science;2022-11-22