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Items: 1 to 20 of 133

1.

Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.

Raghupathy RK, McCulloch DL, Akhtar S, Al-mubrad TM, Shu X.

Zebrafish. 2013 Mar;10(1):62-9. doi: 10.1089/zeb.2012.0761. Review.

PMID:
23536988
2.

Pathogenesis of X-linked RP3: insights from animal models.

Raghupathy RK, McCulloch DL, Akhtar S, Al-Mubrad TM, Shu X.

Adv Exp Med Biol. 2014;801:477-85. doi: 10.1007/978-1-4614-3209-8_61. Review.

PMID:
24664734
3.

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.

4.

Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.

Liu F, Chen J, Yu S, Raghupathy RK, Liu X, Qin Y, Li C, Huang M, Liao S, Wang J, Zou J, Shu X, Tang Z, Liu M.

Hum Mol Genet. 2015 Aug 15;24(16):4648-59. doi: 10.1093/hmg/ddv197.

PMID:
26034134
5.

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
6.

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.

Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.

PMID:
20021257
7.

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.

8.

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.

9.

Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.

Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB.

Neurosci Lett. 2011 Aug 1;500(1):16-9. doi: 10.1016/j.neulet.2011.05.234.

PMID:
21683121
10.

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82.

PMID:
16936086
11.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.

PMID:
16969763
12.

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.

Haddad MF, Khabour OF, Abuzaideh KA, Shihadeh W.

Genet Mol Res. 2016 Jun 3;15(2). doi: 10.4238/gmr.15027842.

13.

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?

Veltel S, Wittinghofer A.

Expert Opin Ther Targets. 2009 Oct;13(10):1239-51. doi: 10.1517/14728220903225016. Review.

PMID:
19702441
14.

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Genet. 1999 Jul-Aug;105(1-2):57-62.

PMID:
10480356
15.

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.

16.

The human retinitis pigmentosa GTPase regulator gene variant database.

Shu X, McDowall E, Brown AF, Wright AF.

Hum Mutat. 2008 May;29(5):605-8. doi: 10.1002/humu.20733.

PMID:
18361418
17.
18.

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.

19.

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
20.

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208.

PMID:
19516003

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