361 related articles for article (PubMed ID: 27911705)
1. Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Lyraki R; Megaw R; Hurd T
Biochem Soc Trans; 2016 Oct; 44(5):1235-1244. PubMed ID: 27911705
[TBL] [Abstract][Full Text] [Related]
2. 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; 54(2):1411-6. PubMed ID: 23372056
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 19702441
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16969763
[TBL] [Abstract][Full Text] [Related]
5. 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; 15(2):. PubMed ID: 27323122
[TBL] [Abstract][Full Text] [Related]
6. Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
Mookherjee S; Hiriyanna S; Kaneshiro K; Li L; Li Y; Li W; Qian H; Li T; Khanna H; Colosi P; Swaroop A; Wu Z
Hum Mol Genet; 2015 Nov; 24(22):6446-58. PubMed ID: 26358772
[TBL] [Abstract][Full Text] [Related]
7. Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Jiang J; Wu X; Shen D; Dong L; Jiao X; Hejtmancik JF; Li N
Sci Rep; 2017 Mar; 7():44465. PubMed ID: 28294154
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20021257
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 23536988
[TBL] [Abstract][Full Text] [Related]
10. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
Parmeggiani F; Barbaro V; Migliorati A; Raffa P; Nespeca P; De Nadai K; Del Vecchio C; Palù G; Parolin C; Di Iorio E
Eur J Ophthalmol; 2017 Mar; 27(2):240-248. PubMed ID: 27768226
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 14566651
[TBL] [Abstract][Full Text] [Related]
12. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K; Othman M; Brumm M; Karoukis AJ; Atmaca-Sonmez P; Yashar BM; Schwartz SB; Stover NB; Trzupek K; Wheaton D; Jennings B; Ciccarelli ML; Jayasundera KT; Lewis RA; Birch D; Bennett J; Sieving PA; Andreasson S; Duncan JL; Fishman GA; Iannaccone A; Weleber RG; Jacobson SG; Heckenlively JR; Swaroop A
Invest Ophthalmol Vis Sci; 2012 Dec; 53(13):8232-7. PubMed ID: 23150612
[TBL] [Abstract][Full Text] [Related]
13. 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; 24(16):4648-59. PubMed ID: 26034134
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 16936086
[TBL] [Abstract][Full Text] [Related]
15. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
Megaw R; Abu-Arafeh H; Jungnickel M; Mellough C; Gurniak C; Witke W; Zhang W; Khanna H; Mill P; Dhillon B; Wright AF; Lako M; Ffrench-Constant C
Nat Commun; 2017 Aug; 8(1):271. PubMed ID: 28814713
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19516003
[TBL] [Abstract][Full Text] [Related]
17. 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; 14():1081-93. PubMed ID: 18552978
[TBL] [Abstract][Full Text] [Related]
18. 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; 54(7):4503-11. PubMed ID: 23745007
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 14564670
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 17904189
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
