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Results: 1 to 20 of 191

1.

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.

Beltran WA, Cideciyan AV, Lewin AS, Iwabe S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng WT, Swider M, Alemán TS, Boye SL, Genini S, Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD.

Proc Natl Acad Sci U S A. 2012 Feb 7;109(6):2132-7. doi: 10.1073/pnas.1118847109. Epub 2012 Jan 23.

PMID:
22308428
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa.

Beltran WA, Hammond P, Acland GM, Aguirre GD.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1669-81.

PMID:
16565408
[PubMed - indexed for MEDLINE]
Free Article
3.

Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.

Adamian M, Pawlyk BS, Hong DH, Berson EL.

Am J Ophthalmol. 2006 Sep;142(3):515-8.

PMID:
16935610
[PubMed - indexed for MEDLINE]
4.

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J.

Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. Epub 2005 Apr 18.

PMID:
15837919
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5594-608. doi: 10.1167/iovs.12-10070.

PMID:
22807293
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

Demirci FY, Gupta N, Radak AL, Rigatti BW, Mah TS, Milam AH, Gorin MB.

Am J Ophthalmol. 2005 Feb;139(2):386-8.

PMID:
15734019
[PubMed - indexed for MEDLINE]
7.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.

PMID:
9331262
[PubMed - indexed for MEDLINE]
Free Article
8.

Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

Pawlyk BS, Smith AJ, Buch PK, Adamian M, Hong DH, Sandberg MA, Ali RR, Li T.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3039-45.

PMID:
16123399
[PubMed - indexed for MEDLINE]
Free Article
9.

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF.

Am J Hum Genet. 2010 Sep 10;87(3):400-9. doi: 10.1016/j.ajhg.2010.08.003.

PMID:
20797688
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Intravitreal injection of ciliary neurotrophic factor (CNTF) causes peripheral remodeling and does not prevent photoreceptor loss in canine RPGR mutant retina.

Beltran WA, Wen R, Acland GM, Aguirre GD.

Exp Eye Res. 2007 Apr;84(4):753-71. Epub 2007 Jan 9.

PMID:
17320077
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.

Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H.

Invest Ophthalmol Vis Sci. 2013 Jul 2;54(7):4503-11. doi: 10.1167/iovs.13-12140.

PMID:
23745007
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.

Arch Ophthalmol. 2008 Mar;126(3):379-84. doi: 10.1001/archophthalmol.2007.72.

PMID:
18332319
[PubMed - indexed for MEDLINE]
13.

Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations.

Beltran WA, Acland GM, Aguirre GD.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3985-95. doi: 10.1167/iovs.08-3364. Epub 2009 Feb 28.

PMID:
19255154
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.

Hong DH, Yue G, Adamian M, Li T.

J Biol Chem. 2001 Apr 13;276(15):12091-9. Epub 2000 Dec 4.

PMID:
11104772
[PubMed - indexed for MEDLINE]
Free Article
15.
16.

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.

Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG.

Mol Ther. 2005 Dec;12(6):1072-82. Epub 2005 Oct 14.

PMID:
16226919
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Proinsulin slows retinal degeneration and vision loss in the P23H rat model of retinitis pigmentosa.

Fernández-Sánchez L, Lax P, Isiegas C, Ayuso E, Ruiz JM, de la Villa P, Bosch F, de la Rosa EJ, Cuenca N.

Hum Gene Ther. 2012 Dec;23(12):1290-300. doi: 10.1089/hum.2012.067. Epub 2012 Nov 5.

PMID:
23017108
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
20238008
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
17904189
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).

Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T.

Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54.

PMID:
10725384
[PubMed - indexed for MEDLINE]
Free PMC Article

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