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Volumn 131, Issue 8, 2013, Pages 1016-1025

Phenotypic conservation in patients with x-linked retinitis pigmentosa caused by rpgr mutations

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR PROTEIN; UNCLASSIFIED DRUG;

EID: 84881622937     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.120     Document Type: Article
Times cited : (30)

References (36)
  • 3
    • 0038485864 scopus 로고    scopus 로고
    • RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
    • Hong DH, Pawlyk B, Sokolov M, et al. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci. 2003;44(6):2413-2421.
    • (2003) Invest Ophthalmol Vis Sci. , vol.44 , Issue.6 , pp. 2413-2421
    • Hong, D.H.1    Pawlyk, B.2    Sokolov, M.3
  • 4
    • 0035853834 scopus 로고    scopus 로고
    • Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
    • Hong DH, Yue G, Adamian M, Li T. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem. 2001;276(15): 12091-12099.
    • (2001) J Biol Chem. , vol.276 , Issue.15 , pp. 12091-12099
    • Hong, D.H.1    Yue, G.2    Adamian, M.3    Li, T.4
  • 5
    • 79952129144 scopus 로고    scopus 로고
    • RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapy
    • Hosch J, Lorenz B, Stieger K. RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapy. Ophthalmic Genet. 2011;32(1):1-11.
    • (2011) Ophthalmic Genet. , vol.32 , Issue.1 , pp. 1-11
    • Hosch, J.1    Lorenz, B.2    Stieger, K.3
  • 6
    • 77956112944 scopus 로고    scopus 로고
    • Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: Implications for cilia dysfunction and photoreceptor degeneration
    • Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H. Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: Implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet. 2010;19(18):3591-3598.
    • (2010) Hum Mol Genet. , vol.19 , Issue.18 , pp. 3591-3598
    • Murga-Zamalloa, C.A.1    Atkins, S.J.2    Peranen, J.3    Swaroop, A.4    Khanna, H.5
  • 7
    • 77955624077 scopus 로고    scopus 로고
    • Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas
    • Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis. 2010;16:1373-1381.
    • (2010) Mol Vis. , Issue.16 , pp. 1373-1381
    • Murga-Zamalloa, C.A.1    Desai, N.J.2    Hildebrandt, F.3    Khanna, H.4
  • 8
    • 20944451188 scopus 로고    scopus 로고
    • RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
    • Shu X, Fry AM, Tulloch B, et al. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet. 2005;14(9):1183-1197.
    • (2005) Hum Mol Genet. , vol.14 , Issue.9 , pp. 1183-1197
    • Shu, X.1    Fry, A.M.2    Tulloch, B.3
  • 10
    • 79959600015 scopus 로고    scopus 로고
    • 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. Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-114.
    • (2010) Adv Exp Med Biol. , vol.664 , pp. 105-114
    • Murga-Zamalloa, C.1    Swaroop, A.2    Khanna, H.3
  • 11
    • 38749123981 scopus 로고    scopus 로고
    • 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, et al. Retinitis pigmentosa GTPase regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked retinitis pigmentosa and associated ciliopathies. Vision Res. 2008;48(3):366-376.
    • (2008) Vision Res. , vol.48 , Issue.3 , pp. 366-376
    • He, S.1    Parapuram, S.K.2    Hurd, T.W.3
  • 12
    • 80051618338 scopus 로고    scopus 로고
    • 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, et al. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PLoS One. 2011;6(8):e23021.
    • (2011) PLoS One. , vol.6 , Issue.8
    • Fahim, A.T.1    Bowne, S.J.2    Sullivan, L.S.3
  • 13
    • 0242522448 scopus 로고    scopus 로고
    • RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
    • Sharon D, SandbergMA, Rabe VW, Stillberger M, Dryja TP, Berson EL. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73(5): 1131-1146.
    • (2003) Am J Hum Genet. , vol.73 , Issue.5 , pp. 1131-1146
    • Sharon, D.1    Sandberg, M.A.2    Rabe, V.W.3    Stillberger, M.4    Dryja, T.P.5    Berson, E.L.6
  • 14
    • 77649319968 scopus 로고    scopus 로고
    • Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development
    • Ghosh AK, Murga-Zamalloa CA, Chan L, Hitchcock PF, Swaroop A, Khanna H. Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Hum Mol Genet. 2010;19(1):90-98.
    • (2010) Hum Mol Genet. , vol.19 , Issue.1 , pp. 90-98
    • Ghosh, A.K.1    Murga-Zamalloa, C.A.2    Chan, L.3    Hitchcock, P.F.4    Swaroop, A.5    Khanna, H.6
  • 15
    • 62549130245 scopus 로고    scopus 로고
    • Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
    • Al-Maskari A, O'grady A, Pal B, McKibbinM. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Eye (Lond). 2009;23(3):519-521.
    • (2009) Eye (Lond). , vol.23 , Issue.3 , pp. 519-521
    • Al-Maskari, A.1    O'grady, A.2    Pal, B.3    McKibbin, M.4
  • 16
    • 0030756190 scopus 로고    scopus 로고
    • Phenotypes in three Swedish familieswith X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
    • Andrsson S, Ponjavic V, Abrahamson M, et al. Phenotypes in three Swedish familieswith X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol. 1997;124(1): 95-102.
    • (1997) Am J Ophthalmol. , vol.124 , Issue.1 , pp. 95-102
    • Andrsson, S.1    Ponjavic, V.2    Abrahamson, M.3
  • 17
    • 33749640221 scopus 로고    scopus 로고
    • Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: Identification of four mutations
    • Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: Identification of four mutations. Mol Vis. 2006;12: 1167-1174.
    • (2006) Mol Vis. , vol.12 , pp. 1167-1174
    • Jin, Z.B.1    Liu, X.Q.2    Hayakawa, M.3    Murakami, A.4    Nao-i, N.5
  • 18
    • 0141570506 scopus 로고    scopus 로고
    • Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
    • Koenekoop RK, LoyerM, Hand CK, et al. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol. 2003;136(4):678-687.
    • (2003) Am J Ophthalmol. , vol.136 , Issue.4 , pp. 678-687
    • Koenekoop, R.K.1    Loyer, M.2    Hand, C.K.3
  • 19
    • 77952503327 scopus 로고    scopus 로고
    • Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
    • Wu DM, Khanna H, Atmaca-Sonmez P, et al. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond). 2010;24(5):764-774.
    • (2010) Eye (Lond). , vol.24 , Issue.5 , pp. 764-774
    • Wu, D.M.1    Khanna, H.2    Atmaca-Sonmez, P.3
  • 20
    • 40849094277 scopus 로고    scopus 로고
    • Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
    • Walia S, Fishman GA, Swaroop A, et al. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol. 2008;126(3):379-384.
    • (2008) Arch Ophthalmol. , vol.126 , Issue.3 , pp. 379-384
    • Walia, S.1    Fishman, G.A.2    Swaroop, A.3
  • 21
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3
    • Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13(1): 35-42.
    • (1996) Nat Genet. , vol.13 , Issue.1 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3
  • 22
    • 0036204904 scopus 로고    scopus 로고
    • X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15
    • Demirci FY, Rigatti BW,Wen G, et al. X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002;70(4):1049-1053.
    • (2002) Am J Hum Genet. , vol.70 , Issue.4 , pp. 1049-1053
    • Demirci, F.Y.1    Rigatti, B.W.2    Wen, G.3
  • 24
    • 0032803677 scopus 로고    scopus 로고
    • 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, et al. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. Hum Genet. 1999;105(1-2):57-62.
    • (1999) Hum Genet. , vol.105 , Issue.1-2 , pp. 57-62
    • Zito, I.1    Thiselton, D.L.2    Gorin, M.B.3
  • 25
    • 17344363773 scopus 로고    scopus 로고
    • Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
    • BuraczynskaM,WuW, Fujita R, et al. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1997;61(6):1287-1292.
    • (1997) Am J Hum Genet. , vol.61 , Issue.6 , pp. 1287-1292
    • Buraczynska, M.1    Wu, W.2    Fujita, R.3
  • 26
    • 0034425755 scopus 로고    scopus 로고
    • Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
    • Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25(4): 462-466.
    • (2000) Nat Genet. , vol.25 , Issue.4 , pp. 462-466
    • Vervoort, R.1    Lennon, A.2    Bird, A.C.3
  • 27
    • 0037378886 scopus 로고    scopus 로고
    • 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, et al. 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. Invest Ophthalmol Vis Sci. 2003;44(4): 1458-1463.
    • (2003) Invest Ophthalmol Vis Sci. , vol.44 , Issue.4 , pp. 1458-1463
    • Bader, I.1    Brandau, O.2    Achatz, H.3
  • 28
    • 18344391605 scopus 로고    scopus 로고
    • 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, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002;70(6): 1545-1554.
    • (2002) Am J Hum Genet. , vol.70 , Issue.6 , pp. 1545-1554
    • Breuer, D.K.1    Yashar, B.M.2    Filippova, E.3
  • 29
    • 0036992832 scopus 로고    scopus 로고
    • X-linked recessive atrophic macular degeneration from RPGR mutation
    • Ayyagari R, Demirci FY, Liu J, et al. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002;80(2):166-171.
    • (2002) Genomics. , vol.80 , Issue.2 , pp. 166-171
    • Ayyagari, R.1    Demirci, F.Y.2    Liu, J.3
  • 31
    • 0031834968 scopus 로고    scopus 로고
    • Patterns of visual field progression in patients with retinitis pigmentosa
    • Grover S, Fishman GA, Brown J Jr. Patterns of visual field progression in patients with retinitis pigmentosa. Ophthalmology. 1998;105(6): 1069-1075.
    • (1998) Ophthalmology. , vol.105 , Issue.6 , pp. 1069-1075
    • Grover, S.1    Fishman, G.A.2    Brown Jr., J.3
  • 32
    • 0033799623 scopus 로고    scopus 로고
    • Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15
    • Mears AJ, Hiriyanna S, Vervoort R, et al. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet. 2000;67(4):1000-1003.
    • (2000) Am J Hum Genet. , vol.67 , Issue.4 , pp. 1000-1003
    • Mears, A.J.1    Hiriyanna, S.2    Vervoort, R.3
  • 33
    • 0030922081 scopus 로고    scopus 로고
    • Localization of a novel X-linked progressive cone dystrophy gene to Xq27: Evidence for genetic heterogeneity
    • Bergen AA, Pinckers AJ. Localization of a novel X-linked progressive cone dystrophy gene to Xq27: Evidence for genetic heterogeneity. Am J Hum Genet. 1997;60(6):1468-1473.
    • (1997) Am J Hum Genet. , vol.60 , Issue.6 , pp. 1468-1473
    • Bergen, A.A.1    Pinckers, A.J.2
  • 34
    • 0037869418 scopus 로고    scopus 로고
    • A new genetic locus for X linked progressive cone-rod dystrophy
    • Jalkanen R, Demirci FY, Tyynismaa H, et al. A new genetic locus for X linked progressive cone-rod dystrophy. J Med Genet. 2003;40(6):418-423.
    • (2003) J Med Genet. , vol.40 , Issue.6 , pp. 418-423
    • Jalkanen, R.1    Demirci, F.Y.2    Tyynismaa, H.3
  • 35
    • 22144494715 scopus 로고    scopus 로고
    • Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families
    • Ebenezer ND,Michaelides M, Jenkins SA, et al. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci. 2005;46(6): 1891-1898.
    • (2005) Invest Ophthalmol Vis Sci. , vol.46 , Issue.6 , pp. 1891-1898
    • Ebenezer, N.D.1    Michaelides, M.2    Jenkins, S.A.3
  • 36
    • 84855173890 scopus 로고    scopus 로고
    • Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa
    • Bittner AK, Iftikhar MH, Dagnelie G. Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2011;52(11):8042-8046.
    • (2011) Invest Ophthalmol Vis Sci. , vol.52 , Issue.11 , pp. 8042-8046
    • Bittner, A.K.1    Iftikhar, M.H.2    Dagnelie, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.