Literature DB >> 17249551

RCC1-like domain and ORF15: essentials in RPGR gene.

Zi-Bing Jin1, Mutsuko Hayakawa, Akira Murakami, Nobuhisa Nao-i.   

Abstract

Clinical research into mutations of the RPGR gene showed that lack of either the RCC1-like domain of the ORF15 causes X-linked retinitis pigmentosa. Thus, the ORF15 and RCC1-like domain play a crucial role in the human retina. Further sudies on the role of the RCC1-like domain in the visual Cascade and additional findings of related proteins in the retina or even other organs, will give us a more precise understanding of this protein.

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Year:  2006        PMID: 17249551     DOI: 10.1007/0-387-32442-9_5

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  3 in total

1.  Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.

Authors:  Fang Hu; Xiang-Yun Zeng; Lin-Lin Liu; Yao-Ling Luo; Yi-Ping Jiang; Hui Wang; Jing Xie; Cheng-Quan Hu; Lin Gan; Liang Huang
Journal:  Int J Ophthalmol       Date:  2014-10-18       Impact factor: 1.779

2.  A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.

Authors:  Xunlun Sheng; Zili Li; Xinfang Zhang; Jing Wang; Hongwang Ren; Yanbo Sun; Ruihua Meng; Weining Rong; Wenjuan Zhuang
Journal:  Mol Vis       Date:  2010-08-15       Impact factor: 2.367

3.  Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients.

Authors:  Wen-Li Deng; Mei-Ling Gao; Xin-Lan Lei; Ji-Neng Lv; Huan Zhao; Kai-Wen He; Xi-Xi Xia; Ling-Yun Li; Yu-Chen Chen; Yan-Ping Li; Deng Pan; Tian Xue; Zi-Bing Jin
Journal:  Stem Cell Reports       Date:  2018-03-08       Impact factor: 7.765

  3 in total

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