Literature DB >> 10090907

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

A J Hardcastle, D L Thiselton, L Van Maldergem, B K Saha, M Jay, C Plant, R Taylor, A C Bird, S Bhattacharya.   

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Year:  1999        PMID： 10090907      PMCID： PMC1377846          DOI： 10.1086/302325

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  33 in total

1.  The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.

Authors:  Toby Hurd; Weibin Zhou; Paul Jenkins; Chia-Jen Liu; Anand Swaroop; Hemant Khanna; Jeffrey Martens; Friedhelm Hildebrandt; Ben Margolis
Journal:  Hum Mol Genet       Date:  2010-08-20       Impact factor: 6.150

2.  Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.

Authors:  Toby W Hurd; Shuling Fan; Ben L Margolis
Journal:  J Cell Sci       Date:  2011-02-01       Impact factor: 5.285

3.  The Ran importin system in cilia trafficking.

Authors:  Shuling Fan; Ben Margolis
Journal:  Organogenesis       Date:  2011-07-01       Impact factor: 2.500

Review 4.  Photoreceptor Cilia and Retinal Ciliopathies.

Authors:  Kinga M Bujakowska; Qin Liu; Eric A Pierce
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-10-03       Impact factor: 10.005

5.  RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Authors:  Thiran Jayasundera; Kari E H Branham; Mohammad Othman; William R Rhoades; Athanasios J Karoukis; Hemant Khanna; Anand Swaroop; John R Heckenlively
Journal:  Arch Ophthalmol       Date:  2010-07

Review 6.  Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

Authors:  Muhammad Umar Ali; Muhammad Saif Ur Rahman; Jiang Cao; Ping Xi Yuan
Journal:  3 Biotech       Date:  2017-07-18       Impact factor: 2.406

7.  Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

Authors:  J Paul Chapple; Celene Grayson; Alison J Hardcastle; Tracey A Bailey; Karl Matter; Peter Adamson; Catriona H Graham; Keith R Willison; Michael E Cheetham
Journal:  Biochem J       Date:  2003-06-01       Impact factor: 3.857

8.  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

9.  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

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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