A NovelKCNJ13Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)-Reference-Cited by-同舟云学术

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

Published:2015-05-20 Issue:7 Volume:36 Page:720-727
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pattnaik Bikash R.¹²³,Shahi Pawan K.¹,Marino Meghan J.⁴,Liu Xinying¹,York Nathaniel¹,Brar Simran¹,Chiang John⁵,Pillers De-Ann M.¹³,Traboulsi Elias I.⁴

Affiliation:

1. Department of Pediatrics, University of Wisconsin; Madison Wisconsin

2. Department of Ophthalmology and Visual Sciences; University of Wisconsin; Madison Wisconsin

3. McPherson Eye Research Institute; University of Wisconsin; Madison Wisconsin

4. Center for Genetic Eye Diseases and Department of Ophthalmic Research; Cole Eye Institute; Cleveland Clinic Foundation; Cleveland Ohio

5. Casey Molecular Diagnostic Laboratory; Oregon Health & Science University; Portland Oregon

Funder

University of Wisconsin Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22807/fullpdf

Reference31 articles.

1. Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA;Askou;J Gene Med,2012

2. ERG and VEP follow-up study in children with Leber's congenital amaurosis;Brecelj;Eye (Lond),1999

3. Interpretation of outer retina appearance in high-resolution optical coherence tomography;Byeon;Am J Ophthalmol,2009

4. Leber congenital amaurosis: genes, proteins and disease mechanisms;den Hollander;Prog Retin Eye Res,2008

5. Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13);Derst;Genomics,1998

Cited by 48 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. Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel;American Journal of Physiology-Cell Physiology;2024-04-01

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

3. K_ir7.1 knockdown and inhibition alter renal electrolyte handling but not the development of hypertension in Dahl salt-sensitive rats;American Journal of Physiology-Renal Physiology;2023-08-01

4. Bankable human iPSC-derived retinal progenitors represent a valuable source of multipotent cells;Communications Biology;2023-07-21

5. The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control;American Journal of Physiology-Cell Physiology;2023-03-01