首页> Proceedings of the National Academy of Sciences of the United States of America> Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

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第一作者： Qihong,Zhang

第一单位： Department of Pediatrics, University of Iowa, Iowa City, IA 52242; qihong-zhang@uiowa.edu val-sheffield@uiowa.edu.

作者： Qihong,Zhang ^[1] ; Joseph C,Giacalone ^[2] ; Charles,Searby ^[3] ; Edwin M,Stone ^[4] ; Budd A,Tucker ^[4] ; Val C,Sheffield ^[5]

作者单位： Department of Pediatrics, University of Iowa, Iowa City, IA 52242; qihong-zhang@uiowa.edu val-sheffield@uiowa.edu. ^[1] Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242. ^[2] Department of Pediatrics, University of Iowa, Iowa City, IA 52242. ^[3] Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242.;Institute for Vision Research, University of Iowa, Iowa City, IA 52242. ^[4] Department of Pediatrics, University of Iowa, Iowa City, IA 52242; qihong-zhang@uiowa.edu val-sheffield@uiowa.edu.;Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242.;Institute for Vision Research, University of Iowa, Iowa City, IA 52242. ^[5]

关键词 INPP5E PDE6D RPGR cilia retinal degeneration

医学主题词动物(Animals);结合部位(Binding Sites);细胞系(Cell Line);纤毛(Cilia);眼蛋白质类(Eye Proteins);HEK293细胞(HEK293 Cells);人类(Humans);小鼠(Mice);突变, 误义(Mutation, Missense);核蛋白质类(Nuclear Proteins);蛋白质相互作用域和基序(Protein Interaction Domains and Motifs);蛋白质亚型(Protein Isoforms);色素性视网膜炎(Retinitis Pigmentosa)

DOI 10.1073/pnas.1817639116

PMID 30622176

发布时间 2020-03-09

基金项目

R01 EY011298/EY/NEI NIH HHS/United States P30 EY025580/EY/NEI NIH HHS/United States T32 GM007337/GM/NIGMS NIH HHS/United States R01 EY017168/EY/NEI NIH HHS/United States R01 EY026008/EY/NEI NIH HHS/United States

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