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Items: 1 to 20 of 46

1.

Predose and Postdose Blood Gene Expression Profiles Identify the Individuals Susceptible to Acetaminophen-Induced Liver Injury in Rats.

Lu X, Hu B, Zheng J, Ji C, Fan X, Gao Y.

PLoS One. 2015 Oct 29;10(10):e0141750. doi: 10.1371/journal.pone.0141750. eCollection 2015.

2.

The genetics of eye disorders in the dog.

Mellersh CS.

Canine Genet Epidemiol. 2014 Apr 16;1:3. doi: 10.1186/2052-6687-1-3. eCollection 2014. Review.

3.

The Role of RPGR and Its Interacting Proteins in Ciliopathies.

Patnaik SR, Raghupathy RK, Zhang X, Mansfield D, Shu X.

J Ophthalmol. 2015;2015:414781. doi: 10.1155/2015/414781. Epub 2015 Jun 1. Review.

4.

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. Epub 2015 Jun 17. Review.

5.

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.

Rao KN, Li L, Anand M, Khanna H.

Sci Rep. 2015 Jun 11;5:11137. doi: 10.1038/srep11137.

6.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R.

Hum Mol Genet. 2015 Mar 15;24(6):1584-601. doi: 10.1093/hmg/ddu573. Epub 2014 Nov 14.

PMID:
25398945
7.

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. Epub 2013 Oct 25. Review.

8.

Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.

Lhériteau E, Petit L, Weber M, Le Meur G, Deschamps JY, Libeau L, Mendes-Madeira A, Guihal C, François A, Guyon R, Provost N, Lemoine F, Papal S, El-Amraoui A, Colle MA, Moullier P, Rolling F.

Mol Ther. 2014 Feb;22(2):265-77. doi: 10.1038/mt.2013.232. Epub 2013 Oct 4.

9.

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.

10.

Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

Miyadera K, Brierley I, Aguirre-Hernández J, Mellersh CS, Sargan DR.

PLoS One. 2012;7(12):e51598. doi: 10.1371/journal.pone.0051598. Epub 2012 Dec 12.

11.

Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.

Patil H, Guruju MR, Cho KI, Yi H, Orry A, Kim H, Ferreira PA.

Biol Open. 2012 Feb 15;1(2):140-60. doi: 10.1242/bio.2011489. Epub 2011 Dec 30.

12.

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H.

Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968.

13.

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.

Patil H, Tserentsoodol N, Saha A, Hao Y, Webb M, Ferreira PA.

Cell Death Dis. 2012 Jul 19;3:e355. doi: 10.1038/cddis.2012.96.

14.

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

Kuznetsova T, Iwabe S, Boesze-Battaglia K, Pearce-Kelling S, Chang-Min Y, McDaid K, Miyadera K, Komaromy A, Aguirre GD.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5486-501. doi: 10.1167/iovs.12-10178.

15.

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. Epub 2012 May 7. Review.

16.

Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.

Narfström K, Jeong M, Hyman J, Madsen RW, Bergström TF.

Stem Cells Int. 2012;2012:685901. doi: 10.1155/2012/685901. Epub 2012 Feb 28.

17.

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.

18.

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

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

Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41. No abstract available.

19.

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC.

Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25.

20.

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.

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