Literature DB >> 15863674

Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.

S Khaliq, A Abid, M Ismail, A Hameed, A Mohyuddin, P Lall, A Aziz, K Anwar, S Q Mehdi.   

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Year:  2005        PMID： 15863674      PMCID： PMC1736063          DOI： 10.1136/jmg.2004.024281

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


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  25 in total

1.  Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Authors:  Juan L Rodriguez-Flores; Khalid Fakhro; Neil R Hackett; Jacqueline Salit; Jennifer Fuller; Francisco Agosto-Perez; Maey Gharbiah; Joel A Malek; Mahmoud Zirie; Amin Jayyousi; Ramin Badii; Ajayeb Al-Nabet Al-Marri; Lotfi Chouchane; Dora J Stadler; Jason G Mezey; Ronald G Crystal
Journal:  Hum Mutat       Date:  2013-11-10       Impact factor: 4.878

2.  Cone photoreceptors develop normally in the absence of functional rod photoreceptors in a transgenic swine model of retinitis pigmentosa.

Authors:  Juan P Fernandez de Castro; Patrick A Scott; James W Fransen; James Demas; Paul J DeMarco; Henry J Kaplan; Maureen A McCall
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-04-17       Impact factor: 4.799

3.  A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.

Authors:  Delu Song; Steve Grieco; Yafeng Li; Allan Hunter; Sally Chu; Liangliang Zhao; Ying Song; Robert A DeAngelis; Lan-Ying Shi; Qin Liu; Eric A Pierce; Patsy M Nishina; John D Lambris; Joshua L Dunaief
Journal:  Am J Pathol       Date:  2014-08-01       Impact factor: 4.307

4.  Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Authors:  Yangfan P Liu; Daniëlle G M Bosch; Anna M Siemiatkowska; Nanna Dahl Rendtorff; F Nienke Boonstra; Claes Möller; Lisbeth Tranebjærg; Nicholas Katsanis; Frans P M Cremers
Journal:  Ophthalmic Genet       Date:  2016-03-30       Impact factor: 1.803

5.  The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background.

Authors:  Qin Liu; Alexei Saveliev; Eric A Pierce
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-05       Impact factor: 4.799

Review 6.  Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-10       Impact factor: 6.915

7.  Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Authors:  Hardeep Pal Singh; Subhadra Jalali; Raja Narayanan; Chitra Kannabiran
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-04-01       Impact factor: 4.799

8.  Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.

Authors:  Anna M Siemiatkowska; Galuh D N Astuti; Kentar Arimadyo; Anneke I den Hollander; Sultana M H Faradz; Frans P M Cremers; Rob W J Collin
Journal:  Mol Vis       Date:  2012-10-03       Impact factor: 2.367

9.  Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Authors:  Marta Corton; Koji M Nishiguchi; Almudena Avila-Fernández; Konstantinos Nikopoulos; Rosa Riveiro-Alvarez; Sorina D Tatu; Carmen Ayuso; Carlo Rivolta
Journal:  PLoS One       Date:  2013-06-14       Impact factor: 3.240

10.  Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

Authors:  Qin Liu; Rob W J Collin; Frans P M Cremers; Anneke I den Hollander; L Ingeborgh van den Born; Eric A Pierce
Journal:  PLoS One       Date:  2012-08-21       Impact factor: 3.240
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