常染色体显性遗传性视网膜色素变性：两个凯尔特血统家族中视紫红质基因第178密码子的突变。 - Suppr

Suppr

超能文献

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin.

作者信息

Farrar G J, Kenna P, Redmond R, Shiels D, McWilliam P, Humphries M M, Sharp E M, Jordan S, Kumar-Singh R, Humphries P

机构信息

Department of Genetics, Trinity College, Dublin, Ireland.

出版信息

Genomics. 1991 Dec;11(4):1170-1.

PMID:1783387

Abstract

摘要

相似文献

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin.常染色体显性遗传性视网膜色素变性：两个凯尔特血统家族中视紫红质基因第178密码子的突变。

Genomics. 1991 Dec;11(4):1170-1.

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.

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.

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.对常染色体显性遗传性视网膜色素变性患者的视紫红质基因进行进一步筛查。

Genomics. 1994 May 15;21(2):461-3. doi: 10.1006/geno.1994.1301.

[Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].[一个常染色体显性遗传性视网膜色素变性家族中视紫红质基因Arg-135-Leu突变的鉴定]

Med Clin (Barc). 1996 Feb 17;106(6):219-21.

[A Chinese family with autosomal dominant retinitis pigmentosa and a pro347Leu rhodopsin gene mutation].一个患有常染色体显性遗传性视网膜色素变性且携带视紫红质基因Pro347Leu突变的中国家庭

Chin Med J (Engl). 2000 Jun;113(6):574-6.

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.视网膜色素变性一种类型中视紫红质基因的点突变。

Nature. 1990 Jan 25;343(6256):364-6. doi: 10.1038/343364a0.

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa.在日本常染色体显性遗传性视网膜色素变性患者中发现视紫红质基因密码子15的错义突变。

Jpn J Hum Genet. 1995 Sep;40(3):271-7. doi: 10.1007/BF01876186.

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.

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.

引用本文的文献

A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration.Y178C视紫红质突变会导致聚集以及相对严重的视网膜变性。

Cell Death Discov. 2025 Jan 29;11(1):32. doi: 10.1038/s41420-025-02311-4.

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.患有与视紫红质突变相关的色素性视网膜炎的韩国人的临床和遗传特征。

Front Genet. 2023 Aug 29;14:1240067. doi: 10.3389/fgene.2023.1240067. eCollection 2023.

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.目标5000：遗传性视网膜变性的靶向捕获测序

Genes (Basel). 2017 Nov 3;8(11):304. doi: 10.3390/genes8110304.

Mouse models of human ocular disease for translational research.用于转化研究的人类眼部疾病小鼠模型。

PLoS One. 2017 Aug 31;12(8):e0183837. doi: 10.1371/journal.pone.0183837. eCollection 2017.

Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward.视网膜基因治疗评估：回顾与展望。

Mol Ther. 2017 May 3;25(5):1076-1094. doi: 10.1016/j.ymthe.2017.03.008. Epub 2017 Apr 5.

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.基于面板的人群下一代测序在遗传性视网膜变性中的应用。

Sci Rep. 2016 Sep 14;6:33248. doi: 10.1038/srep33248.

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.下一代测序技术与全基因组数据分析：视网膜研究的前景

Prog Retin Eye Res. 2016 Nov;55:1-31. doi: 10.1016/j.preteyeres.2016.06.001. Epub 2016 Jun 11.

Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.中国视网膜色素变性患者视紫红质基因突变谱

Mol Vis. 2014 Jul 31;20:1132-6. eCollection 2014.

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.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.一种BTB-凯尔希蛋白KLHL7的突变会导致常染色体显性遗传性视网膜色素变性。

Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007.

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