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Items: 1 to 20 of 138

1.

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

Murga-Zamalloa C, Swaroop A, Khanna H.

Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Review.

2.

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.

He S, Parapuram SK, Hurd TW, Behnam B, Margolis B, Swaroop A, Khanna H.

Vision Res. 2008 Feb;48(3):366-76. Epub 2007 Sep 27.

3.

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H.

Hum Mol Genet. 2010 Sep 15;19(18):3591-8. doi: 10.1093/hmg/ddq275. Epub 2010 Jul 14.

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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.

Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.

6.

RPGR mutation analysis and disease: an update.

Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF.

Hum Mutat. 2007 Apr;28(4):322-8.

PMID:
17195164
7.

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

Ghosh AK, Murga-Zamalloa CA, Chan L, Hitchcock PF, Swaroop A, Khanna H.

Hum Mol Genet. 2010 Jan 1;19(1):90-8. doi: 10.1093/hmg/ddp469. Epub .

8.

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Genet. 1999 Jul-Aug;105(1-2):57-62.

PMID:
10480356
9.

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A.

J Biol Chem. 2005 Sep 30;280(39):33580-7. Epub 2005 Jul 25.

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11.

Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.

Wright RN, Hong DH, Perkins B.

Invest Ophthalmol Vis Sci. 2011 Jul 15;52(8):5189-201. doi: 10.1167/iovs.11-7470.

13.

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A.

Am J Hum Genet. 1997 Sep;61(3):571-80.

14.

RPGR mutations might cause reduced orientation of respiratory cilia.

Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H, Witt M.

Pediatr Pulmonol. 2013 Apr;48(4):352-63. doi: 10.1002/ppul.22632. Epub 2012 Aug 6.

PMID:
22888088
15.

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W.

Hum Mol Genet. 1999 Aug;8(8):1571-8.

16.

Identification and characterization of a novel RPGR isoform in human retina.

Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W.

Hum Mutat. 2007 Aug;28(8):797-807.

PMID:
17405150
17.

Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.

Raghupathy RK, McCulloch DL, Akhtar S, Al-mubrad TM, Shu X.

Zebrafish. 2013 Mar;10(1):62-9. doi: 10.1089/zeb.2012.0761. Epub 2013 Mar 28. Review.

PMID:
23536988
18.

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF.

Nat Genet. 2000 Aug;25(4):462-6.

PMID:
10932196
20.

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.

Sheng X, Li Z, Zhang X, Wang J, Ren H, Sun Y, Meng R, Rong W, Zhuang W.

Mol Vis. 2010 Aug 15;16:1620-8.

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