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Items: 1 to 20 of 105

1.

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.

2.

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.

Sun X, Park JH, Gumerson J, Wu Z, Swaroop A, Qian H, Roll-Mecak A, Li T.

Proc Natl Acad Sci U S A. 2016 May 24;113(21):E2925-34. doi: 10.1073/pnas.1523201113. Epub 2016 May 9.

3.

A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo.

Hong DH, Pawlyk BS, Adamian M, Sandberg MA, Li T.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):435-41.

PMID:
15671266
4.

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.

Wu Z, Hiriyanna S, Qian H, Mookherjee S, Campos MM, Gao C, Fariss R, Sieving PA, Li T, Colosi P, Swaroop A.

Hum Mol Genet. 2015 Jul 15;24(14):3956-70. doi: 10.1093/hmg/ddv134. Epub 2015 Apr 15.

5.

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.

6.

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.

Thompson DA, Khan NW, Othman MI, Chang B, Jia L, Grahek G, Wu Z, Hiriyanna S, Nellissery J, Li T, Khanna H, Colosi P, Swaroop A, Heckenlively JR.

PLoS One. 2012;7(5):e35865. doi: 10.1371/journal.pone.0035865. Epub 2012 May 1.

7.

RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.

Hosch J, Lorenz B, Stieger K.

Ophthalmic Genet. 2011 Mar;32(1):1-11. doi: 10.3109/13816810.2010.535889. Epub 2010 Dec 21. Review.

PMID:
21174525
8.

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.

9.

RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.

Wright RN, Hong DH, Perkins B.

Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1519-29. doi: 10.1167/iovs.11-8845. Print 2012 Mar.

10.

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.

12.

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.

13.

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF.

Hum Mol Genet. 2005 May 1;14(9):1183-97. Epub 2005 Mar 16.

PMID:
15772089
14.

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.

Megaw R, Abu-Arafeh H, Jungnickel M, Mellough C, Gurniak C, Witke W, Zhang W, Khanna H, Mill P, Dhillon B, Wright AF, Lako M, Ffrench-Constant C.

Nat Commun. 2017 Aug 16;8(1):271. doi: 10.1038/s41467-017-00111-8.

15.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.

PMID:
12657579
16.

Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene.

Raghupathy RK, Gautier P, Soares DC, Wright AF, Shu X.

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6255-64. doi: 10.1167/iovs.15-17726.

17.

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
18.

A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.

Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M.

Mol Vis. 2007 Aug 30;13:1548-54.

PMID:
17893654
19.

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF.

Hum Mutat. 2002 May;19(5):486-500. Review.

PMID:
11968081
20.

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA.

Hum Mol Genet. 2000 Sep 1;9(14):2095-105.

PMID:
10958648

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