Focus on Molecules: RPGR.

Suppr

超能文献

作者信息

Wright Alan F, Shu Xinhua

机构信息

MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.

出版信息

Exp Eye Res. 2007 Jul;85(1):1-2. doi: 10.1016/j.exer.2006.03.006. Epub 2006 Jun 12.

DOI:10.1016/j.exer.2006.03.006

PMID:16769054

Abstract

摘要

相似文献

Focus on Molecules: RPGR.

Exp Eye Res. 2007 Jul;85(1):1-2. doi: 10.1016/j.exer.2006.03.006. Epub 2006 Jun 12.

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.与RPGR突变相关的伴有反复感染和听力损失的X连锁视网膜色素变性综合征的临床和免疫组化证据。

J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118.

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.X 染色体失活是 RPGR 相关 X 连锁性视网膜色素变性女性携带者临床严重程度的生物标志物。

Ophthalmol Retina. 2020 May;4(5):510-520. doi: 10.1016/j.oret.2019.11.010. Epub 2019 Nov 18.

RCC1-like domain and ORF15: essentials in RPGR gene.RCC1样结构域和ORF15：RPGR基因的关键要素。

Adv Exp Med Biol. 2006;572:29-33. doi: 10.1007/0-387-32442-9_5.

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.X 连锁型视网膜炎色素变性基因 RPGR 和 RP2 的突变存在于 8.5% 具有常染色体显性遗传视网膜炎色素变性初步诊断的家族中。

Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.RPGRIP1L和IQCB1的多态性变异作为RPGR突变所致X连锁视网膜色素变性的修饰因子

Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41.

A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.一个新的RPGR ORF15从头移码突变与一个中国家系的X连锁视网膜色素变性相关。

Mol Vis. 2007 Aug 30;13:1548-54.

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.X连锁视网膜色素变性患者中RP2和RPGR突变及其临床相关性

Am J Hum Genet. 2003 Nov;73(5):1131-46. doi: 10.1086/379379. Epub 2003 Oct 16.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.X连锁视网膜色素变性：大多数具有明确X连锁的家族中存在RPGR突变，且外显子ORF15的短序列片段中存在突变聚集。

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605.

A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa.RPGR 基因的一个新突变与一个中国 X 连锁视网膜色素变性家系相关。

Mol Genet Metab. 2011 Apr;102(4):488-93. doi: 10.1016/j.ymgme.2010.12.006. Epub 2010 Dec 21.

引用本文的文献

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.揭示中国视网膜色素变性队列的遗传和表型特征

Mol Genet Genomic Med. 2025 Feb;13(2):e70011. doi: 10.1002/mgg3.70011.

Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.视网膜色素变性GTP酶调节因子相关视网膜病变与基因治疗

Saudi J Ophthalmol. 2023 Oct 24;37(4):276-286. doi: 10.4103/sjopt.sjopt_168_23. eCollection 2023 Oct-Dec.

Identification of circular RNAs hosted by the ORF15 genomic locus.鉴定 ORF15 基因组位置上的环状 RNA。

RNA Biol. 2023 Jan;20(1):31-47. doi: 10.1080/15476286.2022.2159165.

Clinical characteristics of high myopia in female carriers of pathogenic mutations: a case series and review of the literature.高度近视女性携带者致病性突变的临床特征：病例系列及文献复习。

Ophthalmic Genet. 2023 Jun;44(3):295-303. doi: 10.1080/13816810.2022.2113544. Epub 2022 Aug 26.

Candidate Genetic Modifiers for RPGR Retinal Degeneration.RPGR 视网膜变性的候选遗传修饰因子。

Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):20. doi: 10.1167/iovs.61.14.20.

Dose Range Finding Studies with Two Transgenes in a Canine Model of X-Linked Retinitis Pigmentosa Treated with Subretinal Gene Therapy.两种转染基因在犬 X 连锁性视网膜炎模型中的亚视网膜基因治疗剂量范围研究

Hum Gene Ther. 2020 Jul;31(13-14):743-755. doi: 10.1089/hum.2019.337. Epub 2020 Jun 29.

Critical Decrease in the Level of Axon Guidance Receptor ROBO1 in Rod Synaptic Terminals Is Followed by Axon Retraction.轴突导向受体 ROBO1 在杆状突触末梢水平的急剧下降导致轴突回缩。

Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):11. doi: 10.1167/iovs.61.3.11.

RPGR gene therapy presents challenges in cloning the coding sequence.RPGR 基因治疗在克隆编码序列方面存在挑战。

Expert Opin Biol Ther. 2020 Jan;20(1):63-71. doi: 10.1080/14712598.2020.1680635. Epub 2019 Oct 20.

Toxicology and Pharmacology of an AAV Vector Expressing Codon-Optimized RPGR in RPGR-Deficient Rd9 Mice.在RPGR缺陷型Rd9小鼠中表达密码子优化的RPGR的腺相关病毒载体的毒理学和药理学

Hum Gene Ther Clin Dev. 2018 Dec;29(4):188-197. doi: 10.1089/humc.2018.168.

Gene therapy for the treatment of X-linked retinitis pigmentosa.用于治疗X连锁视网膜色素变性的基因疗法。

Expert Opin Orphan Drugs. 2018 Feb 27;6(3):167-177. doi: 10.1080/21678707.2018.1444476.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验