메뉴 건너뛰기




Volumn 29, Issue 5, 2008, Pages 605-608

The human retinitis pigmentosa GTPase regulator gene variant database

Author keywords

Mutation database; Retinal degeneration; Retinitis pigmentosa; RPGR

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

EID: 42949171813     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20733     Document Type: Review
Times cited : (26)

References (40)
  • 2
    • 0034284501 scopus 로고    scopus 로고
    • Identification of a novel protein interacting with RPGR
    • Boylan JP, Wright AF. 2000. Identification of a novel protein interacting with RPGR. Hum Mol Genet 9:2085-2093.
    • (2000) Hum Mol Genet , vol.9 , pp. 2085-2093
    • Boylan, J.P.1    Wright, A.F.2
  • 6
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 9
    • 22844452823 scopus 로고    scopus 로고
    • LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
    • Fokkema IF, den Dunnen JT, Taschner PE. 2005. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 26:63-68.
    • (2005) Hum Mutat , vol.26 , pp. 63-68
    • Fokkema, I.F.1    den Dunnen, J.T.2    Taschner, P.E.3
  • 13
    • 0034724168 scopus 로고    scopus 로고
    • A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
    • Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. 2000. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 97:3649-3654.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 3649-3654
    • Hong, D.H.1    Pawlyk, B.S.2    Shang, J.3    Sandberg, M.A.4    Berson, E.L.5    Li, T.6
  • 14
    • 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. 2001. 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 276:12091-12099.
    • (2001) J Biol Chem , vol.276 , pp. 12091-12099
    • Hong, D.H.1    Yue, G.2    Adamian, M.3    Li, T.4
  • 15
    • 0036846601 scopus 로고    scopus 로고
    • Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers
    • Hong DH, Li T. 2002. Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers. Invest Ophthalmol Vis Sci 43:3373-3382.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 3373-3382
    • Hong, D.H.1    Li, T.2
  • 17
    • 0032816282 scopus 로고    scopus 로고
    • RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
    • Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. 1999. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet 8:1571-1578.
    • (1999) Hum Mol Genet , vol.8 , pp. 1571-1578
    • Kirschner, R.1    Rosenberg, T.2    Schultz-Heienbrok, R.3    Lenzner, S.4    Feil, S.5    Roepman, R.6    Cremers, F.P.7    Ropers, H.H.8    Berger, W.9
  • 18
    • 0142188569 scopus 로고    scopus 로고
    • Ran in the spindle checkpoint: A new function for a versatile GTPase
    • Li HY, Cao K, Zheng Y. 2003. Ran in the spindle checkpoint: a new function for a versatile GTPase. Trends Cell Biol 13:553-557.
    • (2003) Trends Cell Biol , vol.13 , pp. 553-557
    • Li, H.Y.1    Cao, K.2    Zheng, Y.3
  • 19
    • 0033573979 scopus 로고    scopus 로고
    • The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
    • Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J. 1999. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci USA 96:1315-1320.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 1315-1320
    • Linari, M.1    Ueffing, M.2    Manson, F.3    Wright, A.4    Meitinger, T.5    Becker, J.6
  • 20
    • 0036667989 scopus 로고    scopus 로고
    • Species-specific subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species
    • Mavlyutov TA, Zhao H, Ferreira PA. 2002. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum Mol Genet 11:1899-1907.
    • (2002) Hum Mol Genet , vol.11 , pp. 1899-1907
    • Mavlyutov, T.A.1    Zhao, H.2    Ferreira, P.A.3
  • 28
    • 0032485075 scopus 로고    scopus 로고
    • The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller
    • Renault L, Nassar N, Vetter I, Becker J, Klebe C, Roth M, Wittinghofer A. 1998. The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller. Nature 392:97-101.
    • (1998) Nature , vol.392 , pp. 97-101
    • Renault, L.1    Nassar, N.2    Vetter, I.3    Becker, J.4    Klebe, C.5    Roth, M.6    Wittinghofer, A.7
  • 29
    • 0034284508 scopus 로고    scopus 로고
    • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
    • Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA. 2000. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet 9:2095-2105.
    • (2000) Hum Mol Genet , vol.9 , pp. 2095-2105
    • Roepman, R.1    Bernoud-Hubac, N.2    Schick, D.E.3    Maugeri, A.4    Berger, W.5    Ropers, H.H.6    Cremers, F.P.7    Ferreira, P.A.8
  • 37
    • 34347348125 scopus 로고    scopus 로고
    • Focus on molecules: RPGR
    • Wright AF, Shu X. 2007. Focus on molecules: RPGR. Exp Eye Res 85:1-2.
    • (2007) Exp Eye Res , vol.85 , pp. 1-2
    • Wright, A.F.1    Shu, X.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.