Literature DB >> 10053026

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

A J Mears, L Gieser, D Yan, C Chen, S Fahrner, S Hiriyanna, R Fujita, S G Jacobson, P A Sieving, A Swaroop.   

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Year:  1999        PMID： 10053026      PMCID： PMC1377809          DOI： 10.1086/302298

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


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  22 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

Review 2.  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

3.  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 4.  Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).

Authors:  Carlos Murga-Zamalloa; Anand Swaroop; Hemant Khanna
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

5.  A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Authors:  Debra K Breuer; Beverly M Yashar; Elena Filippova; Suja Hiriyanna; Robert H Lyons; Alan J Mears; Bersabell Asaye; Ceren Acar; Raf Vervoort; Alan F Wright; Maria A Musarella; Patricia Wheeler; Ian MacDonald; Alessandro Iannaccone; David Birch; Dennis R Hoffman; Gerald A Fishman; John R Heckenlively; Samuel G Jacobson; Paul A Sieving; Anand Swaroop
Journal:  Am J Hum Genet       Date:  2002-04-30       Impact factor: 11.025

6.  RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Authors:  A Moore; E Escudier; G Roger; A Tamalet; B Pelosse; S Marlin; A Clément; M Geremek; B Delaisi; A-M Bridoux; A Coste; M Witt; B Duriez; S Amselem
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

7.  Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

Authors:  A Melamud; G-Q Shen; D Chung; Q Xi; E Simpson; L Li; N S Peachey; H Zegarra; S A Hagstrom; Q K Wang; E I Traboulsi
Journal:  J Med Genet       Date:  2006-06       Impact factor: 6.318

Review 8.  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

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

Review 10.  RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Authors:  Carlos A Murga-Zamalloa; Anand Swaroop; Hemant Khanna
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166
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