Literature DB >> 23423174

What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases.

Anand Swaroop1.   

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Year:  2013        PMID： 23423174      PMCID： PMC4604716          DOI： 10.1167/iovs.13-11750

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN： 0146-0404            Impact factor:   4.799


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  6 in total

1.  Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.

Authors:  William A Beltran; Artur V Cideciyan; Alfred S Lewin; Simone Iwabe; Hemant Khanna; Alexander Sumaroka; Vince A Chiodo; Diego S Fajardo; Alejandro J Román; Wen-Tao Deng; Malgorzata Swider; Tomas S Alemán; Sanford L Boye; Sem Genini; Anand Swaroop; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-23       Impact factor: 11.205

2.  Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

Authors:  Sara J Bowne; Lori S Sullivan; Daniel C Koboldt; Li Ding; Robert Fulton; Rachel M Abbott; Erica J Sodergren; David G Birch; Dianna H Wheaton; John R Heckenlively; Qin Liu; Eric A Pierce; George M Weinstock; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-01-25       Impact factor: 4.799

3.  Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Authors:  Kari Branham; Mohammad Othman; Matthew Brumm; Athanasios J Karoukis; Pelin Atmaca-Sonmez; Beverly M Yashar; Sharon B Schwartz; Niamh B Stover; Karmen Trzupek; Dianna Wheaton; Barbara Jennings; Maria Laura Ciccarelli; K Thiran Jayasundera; Richard A Lewis; David Birch; Jean Bennett; Paul A Sieving; Sten Andreasson; Jacque L Duncan; Gerald A Fishman; Alessandro Iannaccone; Richard G Weleber; Samuel G Jacobson; John R Heckenlively; Anand Swaroop
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-12-13       Impact factor: 4.799

4.  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

5.  The human retinitis pigmentosa GTPase regulator gene variant database.

Authors:  Xinhua Shu; Ewan McDowall; Alastair F Brown; Alan F Wright
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

6.  Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.

Authors:  Rivka A Rachel; Tiansen Li; Anand Swaroop
Journal:  Cilia       Date:  2012-12-03
  6 in total
  3 in total

1.  CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

Authors:  Rivka A Rachel; Erin A Yamamoto; Mrinal K Dewanjee; Helen L May-Simera; Yuri V Sergeev; Alice N Hackett; Katherine Pohida; Jeeva Munasinghe; Norimoto Gotoh; Bill Wickstead; Robert N Fariss; Lijin Dong; Tiansen Li; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2015-04-09       Impact factor: 6.150

2.  Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.

Authors:  Kollu N Rao; Linjing Li; Manisha Anand; Hemant Khanna
Journal:  Sci Rep       Date:  2015-06-11       Impact factor: 4.379

Review 3.  Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.

Authors:  Rinki Ratnapriya; Anand Swaroop
Journal:  Genome Med       Date:  2013-10-11       Impact factor: 11.117
  3 in total

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