Literature DB >> 11950860

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

J-M Rozet, I Perrault, N Gigarel, E Souied, I Ghazi, S Gerber, J-L Dufier, A Munnich, J Kaplan.   

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Year:  2002        PMID： 11950860      PMCID： PMC1735080          DOI： 10.1136/jmg.39.4.284

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  28 in total

Review 1.  Perspective on genes and mutations causing retinitis pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Arch Ophthalmol       Date:  2007-02

2.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

3.  Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

Authors:  Stephen P Daiger; Lori S Sullivan; Anisa I Gire; David G Birch; John R Heckenlively; Sara J Bowne
Journal:  Adv Exp Med Biol       Date:  2008       Impact factor: 2.622

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

Authors:  Qihong Zhang; Joseph C Giacalone; Charles Searby; Edwin M Stone; Budd A Tucker; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2019-01-08       Impact factor: 11.205

5.  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

6.  Visual Function in Carriers of X-Linked Retinitis Pigmentosa.

Authors:  Jason Comander; Carol Weigel-DiFranco; Michael A Sandberg; Eliot L Berson
Journal:  Ophthalmology       Date:  2015-07-02       Impact factor: 12.079

7.  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

8.  RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Authors:  Dror Sharon; Michael A Sandberg; Vivian W Rabe; Melissa Stillberger; Thaddeus P Dryja; Eliot L Berson
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

9.  Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.

Authors:  Tomas S Aleman; Artur V Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Elizabeth A M Windsor; Janet D Steinberg; Kari Branham; Mohammad Othman; Anand Swaroop; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-10       Impact factor: 4.799

10.  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.

Authors:  Jennifer D Churchill; Sara J Bowne; Lori S Sullivan; Richard Alan Lewis; Dianna K Wheaton; David G Birch; Kari E Branham; John R Heckenlively; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-02-19       Impact factor: 4.799
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