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Items: 1 to 20 of 99

1.

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-associated X-linked Retinitis Pigmentosa.

Giacalone JC, Andorf JL, Zhang Q, Burnight E, Ochoa D, Reutzel AJ, Collins MM, Sheffield V, Mullins RF, Han IC, Stone E, Tucker BA.

Hum Gene Ther. 2019 May 20. doi: 10.1089/hum.2018.244. [Epub ahead of print]

PMID:
31106594
2.

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.

Fischer MD, McClements ME, Martinez-Fernandez de la Camara C, Bellingrath JS, Dauletbekov D, Ramsden SC, Hickey DG, Barnard AR, MacLaren RE.

Mol Ther. 2017 Aug 2;25(8):1854-1865. doi: 10.1016/j.ymthe.2017.05.005. Epub 2017 May 24.

3.

Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.

Deng WT, Dyka FM, Dinculescu A, Li J, Zhu P, Chiodo VA, Boye SL, Conlon TJ, Erger K, Cossette T, Hauswirth WW.

Hum Gene Ther. 2015 Sep;26(9):593-602. doi: 10.1089/hum.2015.035. Epub 2015 Jul 29.

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.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC.

Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1353-1360. doi: 10.1073/pnas.1817639116. Epub 2019 Jan 8.

PMID:
30622176
6.

Toxicology and Pharmacology of an AAV Vector Expressing Codon-Optimized RPGR in RPGR-Deficient Rd9 Mice.

Song C, Conlon TJ, Deng WT, Coleman KE, Zhu P, Plummer C, Mandapati S, Van Hoosear M, Green KB, Sonnentag P, Sharma AK, Timmers A, Robinson PM, Knop DR, Hauswirth WW, Chulay JD, Shearman MS, Ye GJ.

Hum Gene Ther Clin Dev. 2018 Dec;29(4):188-197. doi: 10.1089/humc.2018.168.

PMID:
30280954
7.

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.

Ophthalmic Genet. 2003 Dec;24(4):215-23.

PMID:
14566651
8.

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.

9.

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Beltran WA, Cideciyan AV, Boye SE, Ye GJ, Iwabe S, Dufour VL, Marinho LF, Swider M, Kosyk MS, Sha J, Boye SL, Peterson JJ, Witherspoon CD, Alexander JJ, Ying GS, Shearman MS, Chulay JD, Hauswirth WW, Gamlin PD, Jacobson SG, Aguirre GD.

Mol Ther. 2017 Aug 2;25(8):1866-1880. doi: 10.1016/j.ymthe.2017.05.004. Epub 2017 May 27.

10.

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
11.

Gene therapy for the treatment of X-linked retinitis pigmentosa.

Martinez-Fernandez De La Camara C, Nanda A, Salvetti AP, Fischer MD, MacLaren RE.

Expert Opin Orphan Drugs. 2018 Feb 27;6(3):167-177. doi: 10.1080/21678707.2018.1444476.

12.

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.

13.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.

14.

Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.

Pawlyk BS, Bulgakov OV, Sun X, Adamian M, Shu X, Smith AJ, Berson EL, Ali RR, Khani S, Wright AF, Sandberg MA, Li T.

Gene Ther. 2016 Feb;23(2):196-204. doi: 10.1038/gt.2015.93. Epub 2015 Sep 8.

15.

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.

16.

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

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.

17.
18.

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.

Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16.

19.

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.

PLoS One. 2011;6(8):e23021. doi: 10.1371/journal.pone.0023021. Epub 2011 Aug 12.

20.

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

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