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Items: 19

1.

Small GTPases Rab8a and Rab11a Are Dispensable for Rhodopsin Transport in Mouse Photoreceptors.

Ying G, Gerstner CD, Frederick JM, Boye SL, Hauswirth WW, Baehr W.

PLoS One. 2016 Aug 16;11(8):e0161236. doi: 10.1371/journal.pone.0161236.

2.

Molecular studies of phenotype variation in canine RPGR-XLPRA1.

Appelbaum T, Becker D, Santana E, Aguirre GD.

Mol Vis. 2016 Apr 9;22:319-31.

3.

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

Rao KN, Zhang W, Li L, Ronquillo C, Baehr W, Khanna H.

Hum Mol Genet. 2016 May 15;25(10):2005-2012.

PMID:
26936822
4.

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate.

Khanna H.

Cells. 2015 Oct 15;4(4):674-86. doi: 10.3390/cells4040674. Review.

5.

RPGR: Its role in photoreceptor physiology, human disease, and future therapies.

Megaw RD, Soares DC, Wright AF.

Exp Eye Res. 2015 Sep;138:32-41. doi: 10.1016/j.exer.2015.06.007. Review.

6.

Nephronophthisis and related syndromes.

Wolf MT.

Curr Opin Pediatr. 2015 Apr;27(2):201-11. doi: 10.1097/MOP.0000000000000194. Review.

7.

Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.

Servattalab S, Yildiz O, Khanna H.

Int J Ophthalmic Pathol. 2012 Jun 24;1(1). pii: e101. No abstract available.

8.

The role of primary cilia in the development and disease of the retina.

Wheway G, Parry DA, Johnson CA.

Organogenesis. 2014 Jan 1;10(1):69-85. doi: 10.4161/org.26710. Review.

9.

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T.

JAMA Ophthalmol. 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120.

10.

Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes.

Yengkopiong JP, Lako JD.

Int J Nephrol Renovasc Dis. 2013;6:39-46. doi: 10.2147/IJNRD.S39295.

11.

Ciliary signaling cascades in photoreceptors.

Yildiz O, Khanna H.

Vision Res. 2012 Dec 15;75:112-6. doi: 10.1016/j.visres.2012.08.007. Review.

12.

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Ronquillo CC, Bernstein PS, Baehr W.

Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Review.

13.

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.

Anand M, Khanna H.

Expert Opin Ther Targets. 2012 Jun;16(6):541-51. doi: 10.1517/14728222.2012.680956. Review.

14.

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.

15.

RPGRIP1 and cone-rod dystrophy in dogs.

Kuznetsova T, Zangerl B, Aguirre GD.

Adv Exp Med Biol. 2012;723:321-8. doi: 10.1007/978-1-4614-0631-0_42. Review. No abstract available.

16.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK.

Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019.

17.

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC.

Hum Mol Genet. 2011 Apr 15;20(8):1467-77. doi: 10.1093/hmg/ddr025.

18.

Ciliopathies: an expanding disease spectrum.

Waters AM, Beales PL.

Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Review.

19.

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.

Won J, Marín de Evsikova C, Smith RS, Hicks WL, Edwards MM, Longo-Guess C, Li T, Naggert JK, Nishina PM.

Hum Mol Genet. 2011 Feb 1;20(3):482-96. doi: 10.1093/hmg/ddq494.

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