Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Suppr

超能文献

作者信息

Souied E, Gerber S, Rozet J M, Bonneau D, Dufier J L, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A

机构信息

Service de Génétique, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.

出版信息

Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433.

DOI:10.1093/hmg/3.8.1433

PMID:7987331

Abstract

摘要

相似文献

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433.

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.

Hum Mutat. 1996;7(2):180-1. doi: 10.1002/humu.1380070202.

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.

Hum Mutat. 1996;7(2):180. doi: 10.1002/humu.1380070202.

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa.南非常染色体显性遗传性视网膜色素变性患者中视紫红质突变的低频率

Clin Genet. 2000 Jul;58(1):77-8. doi: 10.1034/j.1399-0004.2000.580114.x.

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性患者视紫红质基因的突变

N Engl J Med. 1990 Nov 8;323(19):1302-7. doi: 10.1056/NEJM199011083231903.

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.西班牙一个常染色体显性遗传性视网膜色素变性（ADRP）家族中RHO基因的Ser186Pro突变

Ophthalmic Genet. 2000 Dec;21(4):251-6.

160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.视紫红质基因中的160苏氨酸突变与色素性视网膜炎相关。

Hum Hered. 1998 Sep-Oct;48(5):237-40. doi: 10.1159/000022809.

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性患者中的三种新型视紫红质突变（C110F、L131P、A164V）

Hum Mol Genet. 1994 Jul;3(7):1203. doi: 10.1093/hmg/3.7.1203.

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).在患有常染色体显性遗传性视网膜色素变性（ADRP）的日本家族中发现的视紫红质基因点突变。

Jpn J Hum Genet. 1992 Jun;37(2):125-32. doi: 10.1007/BF01899733.

Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.

Hum Mol Genet. 1994 Aug;3(8):1421. doi: 10.1093/hmg/3.8.1421.

引用本文的文献

Sector retinitis pigmentosa: Report of ten cases and a review of the literature.扇形视网膜色素变性：10例报告及文献复习

Mol Vis. 2019 Dec 30;25:869-889. eCollection 2019.

Misfolded rhodopsin mutants display variable aggregation properties.错误折叠的视紫红质突变体表现出可变的聚集特性。

Biochim Biophys Acta Mol Basis Dis. 2018 Sep;1864(9 Pt B):2938-2948. doi: 10.1016/j.bbadis.2018.06.004. Epub 2018 Jun 8.

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.剪接因子基因突变是比利时家族常染色体显性视网膜色素变性的主要病因。

PLoS One. 2017 Jan 11;12(1):e0170038. doi: 10.1371/journal.pone.0170038. eCollection 2017.

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.视紫红质基因的遗传分析在一名健康个体中鉴定出一种镶嵌型显性视网膜色素变性突变。

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):940-7. doi: 10.1167/iovs.15-18702.

Structure and activation of rhodopsin.视紫红质的结构与激活

Acta Pharmacol Sin. 2012 Mar;33(3):291-9. doi: 10.1038/aps.2011.171. Epub 2012 Jan 23.

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.采用靶向重测序技术对西班牙常染色体隐性遗传性视网膜色素变性患者进行多个基因的突变筛查。

PLoS One. 2011;6(12):e27894. doi: 10.1371/journal.pone.0027894. Epub 2011 Dec 2.

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.法国常染色体显性遗传性视杆-视锥营养不良患者的视紫红质基因突变谱。

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.

Amino acid residues critical for endoplasmic reticulum export and trafficking of platelet-activating factor receptor.对血小板激活因子受体内质网输出和运输至关重要的氨基酸残基。

J Biol Chem. 2010 Feb 19;285(8):5931-40. doi: 10.1074/jbc.M109.066282. Epub 2009 Dec 10.

Finding and interpreting genetic variations that are important to ophthalmologists.寻找并解读对眼科医生而言至关重要的基因变异。

Trans Am Ophthalmol Soc. 2003;101:437-84.

Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.视紫红质的结构与功能：跨膜结构域中螺旋的堆积与盘内结构域折叠形成三级结构是相互关联的。

Proc Natl Acad Sci U S A. 1997 Sep 30;94(20):10571-6. doi: 10.1073/pnas.94.20.10571.

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