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Volumn 26, Issue , 2003, Pages 657-700

Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Author keywords

Death kinetics; Gene expression analysis; Modifier genes; pre mRNA splicing; Retinal degeneration

Indexed keywords

LIPOFUSCIN; MESSENGER RNA PRECURSOR;

EID: 0042357381     PISSN: 0147006X     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.neuro.26.041002.131416     Document Type: Review
Times cited : (137)

References (209)
  • 1
    • 0031741144 scopus 로고    scopus 로고
    • The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein
    • Achsel T, Ahrens K, Brahms H, Teigelkamp S, Luhrmann R. 1998. The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein. Mol. Cell Biol, 18:6756-66
    • (1998) Mol. Cell Biol. , vol.18 , pp. 6756-6766
    • Achsel, T.1    Ahrens, K.2    Brahms, H.3    Teigelkamp, S.4    Luhrmann, R.5
  • 2
    • 0023917130 scopus 로고
    • Variation in retinal degeneration phenotype inherited at the prcd locus
    • Aguirre GD, Acland GM. 1988. Variation in retinal degeneration phenotype inherited at the prcd locus. Exp. Eye Res. 46:663-87
    • (1988) Exp. Eye Res. , vol.46 , pp. 663-687
    • Aguirre, G.D.1    Acland, G.M.2
  • 3
    • 12944293118 scopus 로고    scopus 로고
    • A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse
    • Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, et al. 2000. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc. Natl. Acad. Sci. USA 97:5551-56
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 5551-5556
    • Akhmedov, N.B.1    Piriev, N.I.2    Chang, B.3    Rapoport, A.L.4    Hawes, N.L.5
  • 4
    • 0033859128 scopus 로고    scopus 로고
    • Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium
    • Allikmets R. 2000. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am. J. Hum. Genet. 67:487-91
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 487-491
    • Allikmets, R.1
  • 5
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, et al. 1997. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-7
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3    Seddon, J.M.4    Lewis, R.A.5
  • 6
    • 0029797311 scopus 로고    scopus 로고
    • Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype
    • Al-Maghtheh M, Vithana E, Tarttelin E, Jay M, Evans K, et al. 1996. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. Am. J. Hum. Genet. 59:864-71
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 864-871
    • Al-Maghtheh, M.1    Vithana, E.2    Tarttelin, E.3    Jay, M.4    Evans, K.5
  • 7
    • 0030801280 scopus 로고    scopus 로고
    • The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6·U5 tri-snRNP
    • Anthony JG, Weidenhammer EM, Woolford JL Jr. 1997. The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6·U5 tri-snRNP. RNA 3:1143-52
    • (1997) RNA , vol.3 , pp. 1143-1152
    • Anthony, J.G.1    Weidenhammer, E.M.2    Woolford J.L., Jr.3
  • 8
    • 0028900170 scopus 로고
    • Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene
    • Apfelstedt-Sylla E, Theischen M, Ruther K, Wedemann H, Gal A, Zrenner E. 1995. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br. J. Ophthalmol. 79:28-34
    • (1995) Br. J. Ophthalmol. , vol.79 , pp. 28-34
    • Apfelstedt-Sylla, E.1    Theischen, M.2    Ruther, K.3    Wedemann, H.4    Gal, A.5    Zrenner, E.6
  • 9
    • 0033714873 scopus 로고    scopus 로고
    • The murine cone photoreceptor: A single cone type expresses both S and M opsins with retinal spatial patterning
    • Applebury ML, Antoch MP, Baxter LC, Chun LL, Falk ID, et al. 2000. The murine cone photoreceptor: a single cone type expresses both S and M opsins with retinal spatial patterning. Neuron 27:513-23
    • (2000) Neuron , vol.27 , pp. 513-523
    • Applebury, M.L.1    Antoch, M.P.2    Baxter, L.C.3    Chun, L.L.4    Falk, I.D.5
  • 10
    • 0030983124 scopus 로고    scopus 로고
    • The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
    • Azarian SM, Travis GH. 1997. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 409:247-52
    • (1997) FEBS Lett. , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 11
    • 0034753546 scopus 로고    scopus 로고
    • RP11 and RP13: Unexpected gene loci
    • Baehr W, Chen CK. 2001. RP11 and RP13: unexpected gene loci. Trends Mol. Med. 7:484-86
    • (2001) Trends Mol. Med. , vol.7 , pp. 484-486
    • Baehr, W.1    Chen, C.K.2
  • 12
    • 0036152341 scopus 로고    scopus 로고
    • Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings
    • Bernstein PS, Leppert M, Singh N, Dean M, Lewis RA, et al. 2002. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest. Ophthalmol. Vis. Sci. 43:466-73
    • (2002) Invest. Ophthalmol. Vis. Sci. , vol.43 , pp. 466-473
    • Bernstein, P.S.1    Leppert, M.2    Singh, N.3    Dean, M.4    Lewis, R.A.5
  • 14
    • 0008195772 scopus 로고
    • Retinitis pigmentosa and allied diseases
    • ed. DM Albert, FA Jakobiec. Toronto: Saunders
    • Berson EL. 1994. Retinitis pigmentosa and allied diseases. In Principle and Practice of Ophthalmology, ed. DM Albert, FA Jakobiec, pp. 1214-37. Toronto: Saunders
    • (1994) Principle and Practice of Ophthalmology , pp. 1214-1237
    • Berson, E.L.1
  • 15
    • 0005998134 scopus 로고    scopus 로고
    • Retinitis pigmentosa
    • ed. E Traboulsi. New York: Oxford Univ. Press
    • Bird A. 1998. Retinitis pigmentosa. In Genetic Diseases of the Eye, ed. E Traboulsi, pp. 325-46. New York: Oxford Univ. Press
    • (1998) Genetic Diseases of the Eye , pp. 325-346
    • Bird, A.1
  • 16
    • 0035977135 scopus 로고    scopus 로고
    • Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes
    • Blackshaw S, Fraioli RE, Fumkawa T, Cepko CL. 2001. Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. Cell 107:579-89
    • (2001) Cell , vol.107 , pp. 579-589
    • Blackshaw, S.1    Fraioli, R.E.2    Fumkawa, T.3    Cepko, C.L.4
  • 17
    • 0015081972 scopus 로고
    • The role of the pigment epithelium in the etiology of inherited retinal dystrophy in the rat
    • Bok D, Hall MO. 1971. The role of the pigment epithelium in the etiology of inherited retinal dystrophy in the rat. J. Cell Biol. 49:664-82
    • (1971) J. Cell Biol. , vol.49 , pp. 664-682
    • Bok, D.1    Hall, M.O.2
  • 18
    • 0021232986 scopus 로고
    • Immunocytochemical localization of cellular retinol binding protein in the rat retina
    • Bok D, Ong DE, Chytil F. 1984. Immunocytochemical localization of cellular retinol binding protein in the rat retina. Invest. Ophthalmol. Vis. Sci. 25:877-83
    • (1984) Invest. Ophthalmol. Vis. Sci. , vol.25 , pp. 877-883
    • Bok, D.1    Ong, D.E.2    Chytil, F.3
  • 19
    • 0002083920 scopus 로고    scopus 로고
    • Melanin and the retinal pigment epithelium
    • ed. MF Marmor, TJ Wolfensberger. New York: Oxford Univ. Press
    • Boulton M. 1998. Melanin and the retinal pigment epithelium. In The Retinal Pigment Epithelium, ed. MF Marmor, TJ Wolfensberger, pp. 68-85. New York: Oxford Univ. Press
    • (1998) The Retinal Pigment Epithelium , pp. 68-85
    • Boulton, M.1
  • 20
    • 0036501591 scopus 로고    scopus 로고
    • Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
    • Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, et al. 2002. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11:559-68
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 559-568
    • Bowne, S.J.1    Sullivan, L.S.2    Blanton, S.H.3    Cepko, C.L.4    Blackshaw, S.5
  • 21
    • 0026672689 scopus 로고
    • Roles of PRP8 protein in the assembly of splicing complexes
    • Brown JD, Beggs JD. 1992. Roles of PRP8 protein in the assembly of splicing complexes. EMBO J. 11:3721-29
    • (1992) EMBO J. , vol.11 , pp. 3721-3729
    • Brown, J.D.1    Beggs, J.D.2
  • 23
    • 0036852481 scopus 로고    scopus 로고
    • Photoreceptor death: Spatiotemporal patterns arising from one-hit death kinetics and a diffusible death factor
    • Burns J, Clarke G, Lumsden CJ. 2002. Photoreceptor death: spatiotemporal patterns arising from one-hit death kinetics and a diffusible death factor. Bull. Math. Biol. 64:1117-45
    • (2002) Bull. Math. Biol. , vol.64 , pp. 1117-1145
    • Burns, J.1    Clarke, G.2    Lumsden, C.J.3
  • 24
    • 0020639785 scopus 로고
    • Defective ingestion of rod outer segments by cultured dystrophic rat pigment epithelial cells
    • Chaitin MH, Hall MO. 1983. Defective ingestion of rod outer segments by cultured dystrophic rat pigment epithelial cells. Invest. Ophthalmol. Vis. Sci. 24:812-20
    • (1983) Invest. Ophthalmol. Vis. Sci. , vol.24 , pp. 812-820
    • Chaitin, M.H.1    Hall, M.O.2
  • 25
    • 18244377189 scopus 로고    scopus 로고
    • Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    • Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, et al. 2002. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11:87-92
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 87-92
    • Chakarova, C.F.1    Hims, M.M.2    Bolz, H.3    Abu-Safieh, L.4    Patel, R.J.5
  • 29
    • 0032753090 scopus 로고    scopus 로고
    • Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)
    • Chen J, Simon MI, Matthes MT, Yasumura D, LaVail MM. 1999. Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness). Invest. Ophthalmol. Vis. Sci. 40:2978-82
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 2978-2982
    • Chen, J.1    Simon, M.I.2    Matthes, M.T.3    Yasumura, D.4    LaVail, M.M.5
  • 30
    • 0034935294 scopus 로고    scopus 로고
    • A photic visual cycle of rhodopsin regeneration is dependent on Rgr
    • Chen P, Hao W, Rife L, Wang XP, Shen D, et al. 2001. A photic visual cycle of rhodopsin regeneration is dependent on Rgr. Nat. Genet. 28:256-60
    • (2001) Nat. Genet. , vol.28 , pp. 256-260
    • Chen, P.1    Hao, W.2    Rife, L.3    Wang, X.P.4    Shen, D.5
  • 31
    • 0032499711 scopus 로고    scopus 로고
    • Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
    • Cideciyan AV, Hood DC, Huang Y, Banin E, Li ZY, et al. 1998. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc. Natl. Acad. Sci. USA 95:7103-8
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 7103-7108
    • Cideciyan, A.V.1    Hood, D.C.2    Huang, Y.3    Banin, E.4    Li, Z.Y.5
  • 32
  • 33
    • 0034106721 scopus 로고    scopus 로고
    • Rom-1 is required for rod photoreceptor viability and disk morphogenesis
    • Clarke G, Goldberg AFX, Vidgen D, Collins L, Schwarz L, et al. 2000b. Rom-1 is required for rod photoreceptor viability and disk morphogenesis. Nat. Genet. 25:67-73
    • (2000) Nat. Genet. , vol.25 , pp. 67-73
    • Clarke, G.1    Goldberg, A.F.X.2    Vidgen, D.3    Collins, L.4    Schwarz, L.5
  • 34
    • 17644432297 scopus 로고    scopus 로고
    • Recent advances in the molecular basis of inherited photoreceptor degeneration
    • Clarke G, Heon E, McInnes RR. 2000c. Recent advances in the molecular basis o f inherited photoreceptor degeneration. Clin. Genet. 57:313-29
    • (2000) Clin. Genet. , vol.57 , pp. 313-329
    • Clarke, G.1    Heon, E.2    McInnes, R.R.3
  • 35
    • 0035473963 scopus 로고    scopus 로고
    • Inherited neurodegenerative diseases: The one-hit model of neurodegeneration
    • Clarke G, Lumsden CJ, McInnes RR. 2001. Inherited neurodegenerative diseases: the one-hit model of neurodegeneration. Hum. Mol. Genet. 10:2269-75
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2269-2275
    • Clarke, G.1    Lumsden, C.J.2    McInnes, R.R.3
  • 36
    • 0033792637 scopus 로고    scopus 로고
    • The question remains: Is the spliceosome a ribozyme?
    • Collins CA, Guthrie C. 2000. The question remains: Is the spliceosome a ribozyme? Nat. Struct. Biol. 7:850-54
    • (2000) Nat. Struct. Biol. , vol.7 , pp. 850-854
    • Collins, C.A.1    Guthrie, C.2
  • 37
    • 6844259885 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    • Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, et al. 1998. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet. 7:355-62
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 355-362
    • Cremers, F.P.1    Van De Pol, D.J.2    Van Driel, M.3    Den Hollander, A.I.4    Van Haren, F.J.5
  • 38
    • 0034125911 scopus 로고    scopus 로고
    • A QTL on distal chromosome 3 that influences the severity of light-induced damage to mouse photoreceptors
    • Danciger M, Matthes MT, Yasamura D, Akhmedov NB, Rickabaugh T, et al. 2000. A QTL on distal chromosome 3 that influences the severity of light-induced damage to mouse photoreceptors. Mamm. Genome 11:422-27
    • (2000) Mamm. Genome , vol.11 , pp. 422-427
    • Danciger, M.1    Matthes, M.T.2    Yasamura, D.3    Akhmedov, N.B.4    Rickabaugh, T.5
  • 39
    • 0034163837 scopus 로고    scopus 로고
    • Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
    • D'Cruz PM, Yasumura D, Weir J, Matthes MT, Abderrahim H, et al. 2000. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum. Mol. Genet. 9:645-51
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 645-651
    • D'Cruz, P.M.1    Yasumura, D.2    Weir, J.3    Matthes, M.T.4    Abderrahim, H.5
  • 40
    • 0035139508 scopus 로고    scopus 로고
    • Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1
    • Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, et al. 2001. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch., Ophthalmol. 119:96-105
    • (2001) Arch. Ophthalmol. , vol.119 , pp. 96-105
    • Downes, S.M.1    Holder, G.E.2    Fitzke, F.W.3    Payne, A.M.4    Warren, M.J.5
  • 41
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, et al. 1990. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364-66
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3    Hahn, L.B.4    Cowley, G.S.5
  • 42
    • 0036206758 scopus 로고    scopus 로고
    • Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
    • Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, et al. 2002. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am. J. Hum. Genet. 70:955-64
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 955-964
    • Eichers, E.R.1    Green, J.S.2    Stockton, D.W.3    Jackman, C.S.4    Whelan, J.5
  • 43
    • 0027410970 scopus 로고
    • Retinal age pigments generated by self-assembling lysosomotropic detergents
    • Eldred GE, Lasky MR. 1993. Retinal age pigments generated by self-assembling lysosomotropic detergents. Nature 361:724-26
    • (1993) Nature , vol.361 , pp. 724-726
    • Eldred, G.E.1    Lasky, M.R.2
  • 44
    • 0029151529 scopus 로고
    • Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q
    • Evans K, al-Maghtheh M, Fitzke FW, Moore AT, Jay M, et al. 1995. Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br. J. Ophthalmol. 79:841-46
    • (1995) Br. J. Ophthalmol. , vol.79 , pp. 841-846
    • Evans, K.1    Al-Maghtheh, M.2    Fitzke, F.W.3    Moore, A.T.4    Jay, M.5
  • 45
    • 0036175725 scopus 로고    scopus 로고
    • Mouse eye gene microarrays for investigating ocular development and disease
    • Farjo R, Yu J, Othman MI, Yoshida S, Sheth S, et al. 2002. Mouse eye gene microarrays for investigating ocular development and disease. Vis. Res. 42:463-70
    • (2002) Vis. Res. , vol.42 , pp. 463-470
    • Farjo, R.1    Yu, J.2    Othman, M.I.3    Yoshida, S.4    Sheth, S.5
  • 46
    • 0036500230 scopus 로고    scopus 로고
    • On the genetics of retinitis pigmentosa and on mutation independent approaches to therapeutic intervention
    • Farrar GJ, Kennan PF, Humphries P. 2002. On the genetics of retinitis pigmentosa and on mutation independent approaches to therapeutic intervention. EMBO J. 21:857-64
    • (2002) EMBO J. , vol.21 , pp. 857-864
    • Farrar, G.J.1    Kennan, P.F.2    Humphries, P.3
  • 47
    • 0031468856 scopus 로고    scopus 로고
    • Sorsby fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
    • Felbor U, Benkwitz C, Klein ML, Greenberg J, Gregory CY, Weber BH. 1997. Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. Arch. Ophthalmol. 115:1569-71
    • (1997) Arch. Ophthalmol. , vol.115 , pp. 1569-1571
    • Felbor, U.1    Benkwitz, C.2    Klein, M.L.3    Greenberg, J.4    Gregory, C.Y.5    Weber, B.H.6
  • 48
    • 0037053320 scopus 로고    scopus 로고
    • Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells
    • Feng W, Yasumura D, Matthes MT, LaVail MM, Vollrath D. 2002. Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells. J. Biol. Chem. 277:17,016-22
    • (2002) J. Biol. Chem. , vol.277 , pp. 17
    • Feng, W.1    Yasumura, D.2    Matthes, M.T.3    LaVail, M.M.4    Vollrath, D.5
  • 49
    • 0033757463 scopus 로고    scopus 로고
    • Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
    • Gal A, Li Y, Thompson DA, Weir J, Orth U, et al. 2000. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat. Genet. 26:270-71
    • (2000) Nat. Genet. , vol.26 , pp. 270-271
    • Gal, A.1    Li, Y.2    Thompson, D.A.3    Weir, J.4    Orth, U.5
  • 50
    • 0033778902 scopus 로고    scopus 로고
    • The molecular genetic basis of the neuronal ceroid lipofuscinoses
    • Gardiner RM. 2000. The molecular genetic basis of the neuronal ceroid lipofuscinoses. Neurol. Sci. 21:S15-19
    • (2000) Neurol. Sci. , vol.21
    • Gardiner, R.M.1
  • 51
    • 0028363788 scopus 로고
    • A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
    • Greenberg J, Goliath R, Beighton P, Ramesar R. 1994. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum. Mol. Genet. 3:915-18
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 915-918
    • Greenberg, J.1    Goliath, R.2    Beighton, P.3    Ramesar, R.4
  • 52
    • 0031255068 scopus 로고    scopus 로고
    • Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    • Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, et al. 1997. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17:194-97
    • (1997) Nat. Genet. , vol.17 , pp. 194-197
    • Gu, S.M.1    Thompson, D.A.2    Srikumari, C.R.3    Lorenz, B.4    Finckh, U.5
  • 54
    • 0033975061 scopus 로고    scopus 로고
    • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    • Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, et al. 2000. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat. Genet. 24:127-31
    • (2000) Nat. Genet. , vol.24 , pp. 127-131
    • Haider, N.B.1    Jacobson, S.G.2    Cideciyan, A.V.3    Swiderski, R.4    Streb, L.M.5
  • 55
    • 0035421442 scopus 로고    scopus 로고
    • Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice
    • Haider NB, Naggert JK, Nishina PM. 2001. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum. Mol. Genet. 10:1619-26
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1619-1626
    • Haider, N.B.1    Naggert, J.K.2    Nishina, P.M.3
  • 56
    • 0035171037 scopus 로고    scopus 로고
    • Outer segment phagocytosis by cultured retinal pigment epithelial cells requires Gas6
    • Hall MO, Prieto AL, Obin MS, Abrams TA, Burgess BL, et al. 2001. Outer segment phagocytosis by cultured retinal pigment epithelial cells requires Gas6. Exp. Eye Res. 73:509-20
    • (2001) Exp. Eye Res. , vol.73 , pp. 509-520
    • Hall, M.O.1    Prieto, A.L.2    Obin, M.S.3    Abrams, T.A.4    Burgess, B.L.5
  • 57
    • 0027242119 scopus 로고
    • Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
    • Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM. 1993. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J. Biol. Chem. 268:15,751-57
    • (1993) J. Biol. Chem. , vol.268 , pp. 15
    • Hamel, C.P.1    Tsilou, E.2    Pfeffer, B.A.3    Hooks, J.J.4    Detrick, B.5    Redmond, T.M.6
  • 59
    • 0036787618 scopus 로고    scopus 로고
    • Evidence for two apoptotic pathways in light-induced retinal degeneration
    • Hao W, Wenzel A, Obin MS, Chen C-K, Brill E, et al. 2002. Evidence for two apoptotic pathways in light-induced retinal degeneration. Nat. Genet. 32:254-60
    • (2002) Nat. Genet. , vol.32 , pp. 254-260
    • Hao, W.1    Wenzel, A.2    Obin, M.S.3    Chen, C.-K.4    Brill, E.5
  • 62
    • 0005207508 scopus 로고
    • Variable expressivity of rd-3 retinal degeneration dependent on back-ground strain
    • ed. JG Hollyfield, RE Anderson, MM LaVail. New York: Plenum Press
    • Heckenlively JR, Chang B, Peng C, Hawes NL, Roderick TH. 1993. Variable expressivity of rd-3 retinal degeneration dependent on back-ground strain. In Retinal Degeneration, ed. JG Hollyfield, RE Anderson, MM LaVail, pp. 273-80. New York: Plenum Press
    • (1993) Retinal Degeneration , pp. 273-280
    • Heckenlively, J.R.1    Chang, B.2    Peng, C.3    Hawes, N.L.4    Roderick, T.H.5
  • 63
    • 0034644265 scopus 로고    scopus 로고
    • One-hit neuronal death
    • Heintz N. 2000. One-hit neuronal death. Nature 406:137-39
    • (2000) Nature , vol.406 , pp. 137-139
    • Heintz, N.1
  • 64
    • 0031057877 scopus 로고    scopus 로고
    • The compartmentalization of the cerebellum
    • Herrup K, Kuemerle B. 1997. The compartmentalization of the cerebellum. Annu. Rev. Neurosci. 20:61-90
    • (1997) Annu. Rev. Neurosci. , vol.20 , pp. 61-90
    • Herrup, K.1    Kuemerle, B.2
  • 65
    • 0030236172 scopus 로고    scopus 로고
    • Characterization and possible roles of fibroblast growth factors in retinal photoreceptor cells
    • Hicks D. 1996. Characterization and possible roles of fibroblast growth factors in retinal photoreceptor cells. Keio. J. Med. 45:140-54
    • (1996) Keio. J. Med. , vol.45 , pp. 140-154
    • Hicks, D.1
  • 66
    • 0028969931 scopus 로고
    • Extraordinary sequence conservation of the PRP8 splicing factor
    • Hodges PE, Jackson SP, Brown JD, Beggs JD. 1995. Extraordinary sequence conservation of the PRP8 splicing factor. Yeast 11:337-42
    • (1995) Yeast , vol.11 , pp. 337-342
    • Hodges, P.E.1    Jackson, S.P.2    Brown, J.D.3    Beggs, J.D.4
  • 67
    • 0027204149 scopus 로고
    • Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
    • Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, et al. 1993. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74:395-404
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3    Steingrimsson, E.4    Copeland, N.G.5
  • 68
    • 0033017053 scopus 로고    scopus 로고
    • Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin
    • Holz FG, Schutt F, Kopitz J, Eldred GE, Kruse FE, et al. 1999. Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin. Invest. Ophthalmol. Vis. Sci. 40:737-43
    • (1999) Invest. Ophthalmol. Vis. Sci. , vol.40 , pp. 737-743
    • Holz, F.G.1    Schutt, F.2    Kopitz, J.3    Eldred, G.E.4    Kruse, F.E.5
  • 69
    • 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. 276:12,091-99
    • (2001) J. Biol. Chem. , vol.276 , pp. 12
    • Hong, D.H.1    Yue, G.2    Adamian, M.3    Li, T.4
  • 70
    • 0031440025 scopus 로고    scopus 로고
    • A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs
    • Horowitz DS, Kobayashi R, Krainer AR. 1997. A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs. RNA 3:1374-87
    • (1997) RNA , vol.3 , pp. 1374-1387
    • Horowitz, D.S.1    Kobayashi, R.2    Krainer, A.R.3
  • 71
    • 0027260657 scopus 로고
    • Cellular interactions implicated in the mechanism of widespread photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene
    • Huang P, Gaitan A, Hao Y, Petters RM, Wong F. 1993. Cellular interactions implicated in the mechanism of widespread photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. Proc. Natl. Acad. Sci. USA 90:8484-88
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 8484-8488
    • Huang, P.1    Gaitan, A.2    Hao, Y.3    Petters, R.M.4    Wong, F.5
  • 72
    • 0015877072 scopus 로고
    • The intercellular junctional complexes of retinal pigment epithelia
    • Hudspeth AJ, Yee AG. 1973. The intercellular junctional complexes of retinal pigment epithelia. Invest. Ophthalmol. 12:354-65
    • (1973) Invest. Ophthalmol. , vol.12 , pp. 354-365
    • Hudspeth, A.J.1    Yee, A.G.2
  • 73
    • 0000820462 scopus 로고    scopus 로고
    • Transport mechanisms in the retinal pigment epithelium
    • ed. MF Marmor, TJ Wolfensberger. New York: Oxford Univ. Press
    • Hughes BA, Gallemore RP, Miller SS. 1998. Transport mechanisms in the retinal pigment epithelium. In The Retinal Pigment Epithelium, ed. MF Marmor, TJ Wolfensberger, pp. 103-34. New York: Oxford Univ. Press
    • (1998) The Retinal Pigment Epithelium , pp. 103-134
    • Hughes, B.A.1    Gallemore, R.P.2    Miller, S.S.3
  • 74
    • 0015381515 scopus 로고
    • The influence of genetic background on expression of mutations at the diabetes locus in the mouse. I. C57BL-KsJ and C57BL-6J strains
    • Hummel KP, Coleman DL, Lane PW. 1972. The influence of genetic background on expression of mutations at the diabetes locus in the mouse. I. C57BL-KsJ and C57BL-6J strains. Biochem. Genet. 7:1-13
    • (1972) Biochem. Genet. , vol.7 , pp. 1-13
    • Hummel, K.P.1    Coleman, D.L.2    Lane, P.W.3
  • 75
    • 0034899355 scopus 로고    scopus 로고
    • Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background
    • Humphries MM, Kiang S, McNally N, Donovan MA, Sieving PA, et al. 2001. Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background. Vis. Neurosci. 18:437-43
    • (2001) Vis. Neurosci. , vol.18 , pp. 437-443
    • Humphries, M.M.1    Kiang, S.2    McNally, N.3    Donovan, M.A.4    Sieving, P.A.5
  • 76
    • 0031045876 scopus 로고    scopus 로고
    • Retinopathy induced in mice by targeted disruption of the rhodopsin gene
    • Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, et al. 1997. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat. Genet. 15:216-19
    • (1997) Nat. Genet. , vol.15 , pp. 216-219
    • Humphries, M.M.1    Rancourt, D.2    Farrar, G.J.3    Kenna, P.4    Hazel, M.5
  • 77
    • 0036318280 scopus 로고    scopus 로고
    • Genetic modification of retinal degeneration in tubby mice
    • Ikeda A, Naggert JK, Nishina PM. 2002. Genetic modification of retinal degeneration in tubby mice. Exp. Eye Res. 74:455-61
    • (2002) Exp. Eye Res. , vol.74 , pp. 455-461
    • Ikeda, A.1    Naggert, J.K.2    Nishina, P.M.3
  • 78
    • 0032833982 scopus 로고    scopus 로고
    • Genetic modification of hearing in tubby mice: Evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss
    • Ikeda A, Zheng QY, Rosenstiel P, Maddatu T, Zuberi AR, et al. 1999a. Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss. Hum. Mol. Genet. 8:1761-67
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1761-1767
    • Ikeda, A.1    Zheng, Q.Y.2    Rosenstiel, P.3    Maddatu, T.4    Zuberi, A.R.5
  • 82
    • 0030010360 scopus 로고    scopus 로고
    • The spatio-temporal pattern of photoreceptor degeneration in the aged rd/rd mouse retina
    • Jimenez AJ, Garcia-Fernandez JM, Gonzalez B, Foster RG. 1996. The spatio-temporal pattern of photoreceptor degeneration in the aged rd/rd mouse retina. Cell Tissue Res. 284:193-202
    • (1996) Cell Tissue Res. , vol.284 , pp. 193-202
    • Jimenez, A.J.1    Garcia-Fernandez, J.M.2    Gonzalez, B.3    Foster, R.G.4
  • 83
    • 0026544936 scopus 로고
    • Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin
    • Jones BA, Fangman WL. 1992. Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin. Genes Dev. 6:380-89
    • (1992) Genes Dev. , vol.6 , pp. 380-389
    • Jones, B.A.1    Fangman, W.L.2
  • 84
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP. 1994. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-8
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 86
    • 0034754212 scopus 로고    scopus 로고
    • Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium
    • Katz ML, Redmond TM. 2001. Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium. Invest. Ophthalmol. Vis. Sci. 42:3023-30
    • (2001) Invest. Ophthalmol. Vis. Sci. , vol.42 , pp. 3023-3030
    • Katz, M.L.1    Redmond, T.M.2
  • 87
    • 0032101737 scopus 로고    scopus 로고
    • Noncell autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene
    • Kedzierski W, Bok D, Travis GH. 1998. Noncell autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene. J. Neurosci. 18:4076-82
    • (1998) J. Neurosci. , vol.18 , pp. 4076-4082
    • Kedzierski, W.1    Bok, D.2    Travis, G.H.3
  • 88
    • 0034940212 scopus 로고    scopus 로고
    • Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
    • Kedzierski W, Nusinowitz S, Birch D, Clarke G, McInnes RR, et al. 2001. Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 98:7718-23
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 7718-7723
    • Kedzierski, W.1    Nusinowitz, S.2    Birch, D.3    Clarke, G.4    McInnes, R.R.5
  • 89
    • 85047697400 scopus 로고    scopus 로고
    • Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
    • Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, et al. 2002. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur. J. Hum. Genet. 10:245-49
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 245-249
    • Keen, T.J.1    Hims, M.M.2    McKie, A.B.3    Moore, A.T.4    Doran, R.M.5
  • 90
    • 0036501462 scopus 로고    scopus 로고
    • Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice
    • Kennan A, Aherne A, Palfi A, Humphries M, McKee A, et al. 2002. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Hum. Mol. Genet. 11:547-57
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 547-557
    • Kennan, A.1    Aherne, A.2    Palfi, A.3    Humphries, M.4    McKee, A.5
  • 91
    • 0028914509 scopus 로고
    • Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene
    • Kim RY, Dollfus H, Keen TJ, Fitzke FW, Arden GB, et al. 1995a. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. Arch. Ophthalmol. 113:451-55
    • (1995) Arch. Ophthalmol. , vol.113 , pp. 451-455
    • Kim, R.Y.1    Dollfus, H.2    Keen, T.J.3    Fitzke, F.W.4    Arden, G.B.5
  • 92
    • 0028918439 scopus 로고
    • Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression
    • Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, et al. 1995b. Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. Br. J. Ophthalmol. 79:23-27
    • (1995) Br. J. Ophthalmol. , vol.79 , pp. 23-27
    • Kim, R.Y.1    Fitzke, F.W.2    Moore, A.T.3    Jay, M.4    Inglehearn, C.5
  • 95
    • 0029891101 scopus 로고    scopus 로고
    • The structure and function of proteins involved in mammalian pre-mRNA splicing
    • Kramer A. 1996. The structure and function of proteins involved in mammalian pre-mRNA splicing. Annu. Rev. Biochem. 65:367-409
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 367-409
    • Kramer, A.1
  • 96
    • 0037047049 scopus 로고    scopus 로고
    • Distinct domains of splicing factor Prp8 mediate different aspects of spliceosome activation
    • Kuhn AN, Reichl EM, Brow DA. 2002. Distinct domains of splicing factor Prp8 mediate different aspects of spliceosome activation. Prac. Natl. Acad. Sci. USA 99:9145-49
    • (2002) Prac. Natl. Acad. Sci. USA , vol.99 , pp. 9145-9149
    • Kuhn, A.N.1    Reichl, E.M.2    Brow, D.A.3
  • 97
    • 0020440792 scopus 로고
    • Retinal degeneration in the pcd cerebellar mutant mouse. I. Light microscopic and autoradio-graphic analysis
    • LaVail MM, Blanks JC, Mullen RJ. 1982. Retinal degeneration in the pcd cerebellar mutant mouse. I. Light microscopic and autoradio-graphic analysis. J. Camp. Neural. 212:217-30
    • (1982) J. Camp. Neural. , vol.212 , pp. 217-230
    • LaVail, M.M.1    Blanks, J.C.2    Mullen, R.J.3
  • 98
    • 0027298826 scopus 로고
    • Retinal degeneration in the nervous mutant mouse. I. Light microscopic cytopathology and changes in the interphotoreceptor matrix
    • LaVail MM, White MP, Gorrin GM, Yasumura D, Porrello KV, Mullen RJ. 1993. Retinal degeneration in the nervous mutant mouse. I. Light microscopic cytopathology and changes in the interphotoreceptor matrix. J. Camp. Neural. 333:168-81
    • (1993) J. Camp. Neural. , vol.333 , pp. 168-181
    • LaVail, M.M.1    White, M.P.2    Gorrin, G.M.3    Yasumura, D.4    Porrello, K.V.5    Mullen, R.J.6
  • 101
    • 0033071210 scopus 로고    scopus 로고
    • Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
    • Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, et al. 1999. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet. 64:422-34
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 422-434
    • Lewis, R.A.1    Shroyer, N.F.2    Singh, N.3    Allikmets, R.4    Hutchinson, A.5
  • 102
    • 0024272143 scopus 로고
    • Inherited retinal dystrophy in the RCS rat: Prevention of photoreceptor degeneration by pigment epithelial cell transplantation
    • Li LX, Turner JE. 1988. Inherited retinal dystrophy in the RCS rat: prevention of photoreceptor degeneration by pigment epithelial cell transplantation. Exp. Eye Res. 47:911-17
    • (1988) Exp. Eye Res. , vol.47 , pp. 911-917
    • Li, L.X.1    Turner, J.E.2
  • 103
    • 0031194506 scopus 로고    scopus 로고
    • A gradient of basic fibroblast growth factor in rod photoreceptors in the normal human retina
    • Li ZY, Chang JH, Milam AH. 1997. A gradient of basic fibroblast growth factor in rod photoreceptors in the normal human retina. Vis. Neurosci. 14:671-79
    • (1997) Vis. Neurosci. , vol.14 , pp. 671-679
    • Li, Z.Y.1    Chang, J.H.2    Milam, A.H.3
  • 104
    • 0028298405 scopus 로고
    • Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: Retinal histopathology and immunocytochemistry
    • Li ZY, Jacobson SG, Milam AH. 1994. Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp. Eye Res. 58:397-408
    • (1994) Exp. Eye Res. , vol.58 , pp. 397-408
    • Li, Z.Y.1    Jacobson, S.G.2    Milam, A.H.3
  • 105
    • 0034704768 scopus 로고    scopus 로고
    • Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx
    • Livesey FJ, Furukawa T, Steffen MA, Church GM, Cepko CL. 2000. Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx. Curr. Biol. 10:301-10
    • (2000) Curr. Biol. , vol.10 , pp. 301-310
    • Livesey, F.J.1    Furukawa, T.2    Steffen, M.A.3    Church, G.M.4    Cepko, C.L.5
  • 106
    • 0034052943 scopus 로고    scopus 로고
    • Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration
    • Loewen CJ, Molday RS. 2000. Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration. J. Biol. Chem. 275:5370-78
    • (2000) J. Biol. Chem. , vol.275 , pp. 5370-5378
    • Loewen, C.J.1    Molday, R.S.2
  • 107
    • 0035933756 scopus 로고    scopus 로고
    • Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
    • Loewen CJ, Moritz OL, Molday RS. 2001. Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. J. Biol. Chem. 276:22,388-96
    • (2001) J. Biol. Chem. , vol.276 , pp. 22
    • Loewen, C.J.1    Moritz, O.L.2    Molday, R.S.3
  • 108
    • 0021887891 scopus 로고
    • A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa
    • Lyness AL, Ernst W, Quinlan MP, Clover GM, Arden GB, et al. 1985. A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br. J. Ophthalmol. 69:326-39
    • (1985) Br. J. Ophthalmol. , vol.69 , pp. 326-339
    • Lyness, A.L.1    Ernst, W.2    Quinlan, M.P.3    Clover, G.M.4    Arden, G.B.5
  • 109
    • 0032544003 scopus 로고    scopus 로고
    • A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice
    • Ma C, Papermaster D, Cepko CL. 1998. A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice. Proc. Natl. Acad. Sci. USA 95:9938-43
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 9938-9943
    • Ma, C.1    Papermaster, D.2    Cepko, C.L.3
  • 110
    • 0030010384 scopus 로고    scopus 로고
    • Six novel genes necessary for pre-mRNA splicing in Saccharomyces cerevisiae
    • Maddock JR, Roy J, Woolford JL Jr. 1996. Six novel genes necessary for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic Acids Res. 24:1037-44
    • (1996) Nucleic Acids Res. , vol.24 , pp. 1037-1044
    • Maddock, J.R.1    Roy, J.2    Woolford J.L., Jr.3
  • 111
    • 0036500141 scopus 로고    scopus 로고
    • Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing
    • Makarova OV, Makarov EM, Liu S, Vornlocher HP, Luhrmann R. 2002. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J. 21:1148-57
    • (2002) EMBO J. , vol.21 , pp. 1148-1157
    • Makarova, O.V.1    Makarov, E.M.2    Liu, S.3    Vornlocher, H.P.4    Luhrmann, R.5
  • 112
    • 0017662278 scopus 로고
    • Fractionation of rhodopsin and other components in the rod outer segment membrane by ammonium sulfate salting-out
    • Makino M, Hamanaka T, Orii Y, Kito Y. 1977. Fractionation of rhodopsin and other components in the rod outer segment membrane by ammonium sulfate salting-out. Biochim. Biophys. Acta 495:299-311
    • (1977) Biochim. Biophys. Acta , vol.495 , pp. 299-311
    • Makino, M.1    Hamanaka, T.2    Orii, Y.3    Kito, Y.4
  • 115
    • 0033739625 scopus 로고    scopus 로고
    • Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
    • Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. 2000. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc. Natl. Acad. Sci. USA 97:12,758-63
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 12
    • Marmorstein, A.D.1    Marmorstein, L.Y.2    Rayborn, M.3    Wang, X.4    Hollyfield, J.G.5    Petrukhin, K.6
  • 116
    • 0031606609 scopus 로고    scopus 로고
    • Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    • Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, et al. 1998. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat. Genet. 18:11-12
    • (1998) Nat. Genet. , vol.18 , pp. 11-12
    • Martinez-Mir, A.1    Paloma, E.2    Allikmets, R.3    Ayuso, C.4    Del Rio, T.5
  • 117
    • 0034944895 scopus 로고    scopus 로고
    • Delayed dark-adaptation and lipofuscin accumulation in abcr+/mice: Implications for involvement of ABCR in age-related macular degeneration
    • Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH. 2001. Delayed dark-adaptation and lipofuscin accumulation in abcr+/mice: implications for involvement of ABCR in age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 42:1685-90
    • (2001) Invest. Ophthalmol. Vis. Sci. , vol.42 , pp. 1685-1690
    • Mata, N.L.1    Tzekov, R.T.2    Liu, X.3    Weng, J.4    Birch, D.G.5    Travis, G.H.6
  • 118
    • 0034691089 scopus 로고    scopus 로고
    • Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
    • Mata NL, Weng J, Travis GH. 2000. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc. Natl. Acad. Sci. USA 97:7154-59
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 7154-7159
    • Mata, N.L.1    Weng, J.2    Travis, G.H.3
  • 119
    • 84984763750 scopus 로고    scopus 로고
    • Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
    • Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, et al. 1997. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat. Genet. 17:198-200
    • (1997) Nat. Genet. , vol.17 , pp. 198-200
    • Maw, M.A.1    Kennedy, B.2    Knight, A.3    Bridges, R.4    Roth, K.E.5
  • 120
    • 0030731399 scopus 로고    scopus 로고
    • Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
    • McGee TL, Devoto M, Ott J, Berson EL, Dryja TP. 1997. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am. J. Hum. Genet. 61:1059-66
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1059-1066
    • McGee, T.L.1    Devoto, M.2    Ott, J.3    Berson, E.L.4    Dryja, T.P.5
  • 121
    • 0035878541 scopus 로고    scopus 로고
    • Mutations in the premRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmento sa (RP13)
    • McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, et al. 2001. Mutations in the premRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmento sa (RP13). Hum. Mol. Genet. 10:1555-62
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1555-1562
    • McKie, A.B.1    McHale, J.C.2    Keen, T.J.3    Tarttelin, E.E.4    Goliath, R.5
  • 122
    • 0024745724 scopus 로고
    • Autosomal dominant retinitis pigmentosa (adRP): Localization of an adRP gene to the long arm of chromosome 3
    • McWilliam P, Farrar GJ, Kenna P, Bradely DG, Humphries MM, et al. 1989. Autosomal dominant retinitis pigmentosa (adRP): localization of an adRP gene to the long arm of chromosome 3. Genomics 5:619-22
    • (1989) Genomics , vol.5 , pp. 619-622
    • McWilliam, P.1    Farrar, G.J.2    Kenna, P.3    Bradely, D.G.4    Humphries, M.M.5
  • 123
    • 0032052472 scopus 로고    scopus 로고
    • Histopathology of the human retina in retinitis pigmentosa
    • Milam A, Li Z, Fariss R. 1998a. Histopathology of the human retina in retinitis pigmentosa. Prog. Retin. Eye Res. 17:175-205
    • (1998) Prog. Retin. Eye Res. , vol.17 , pp. 175-205
    • Milam, A.1    Li, Z.2    Fariss, R.3
  • 125
    • 0032052472 scopus 로고    scopus 로고
    • Histopathology of the human retina in retinitis pigmentosa
    • Milam AH, Li ZY, Fariss RN. 1998b. Histopathology of the human retina in retinitis pigmentosa. Prog. Retin. Eye Res. 17:175-205
    • (1998) Prog. Retin. Eye Res. , vol.17 , pp. 175-205
    • Milam, A.H.1    Li, Z.Y.2    Fariss, R.N.3
  • 126
    • 18244385003 scopus 로고    scopus 로고
    • The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
    • Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, et al. 2002. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc. Natl. Acad. Sci. USA 99:473-78
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 473-478
    • Milam, A.H.1    Rose, L.2    Cideciyan, A.V.3    Barakat, M.R.4    Tang, W.X.5
  • 127
    • 0032493433 scopus 로고    scopus 로고
    • Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse
    • Mohand-Said S, Deudon-Combe A, Hicks D, Simonutti M, Forster V, et al. 1998. Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse. Proc. Natl. Acad. Sci. USA 95:8357-62
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 8357-8362
    • Mohand-Said, S.1    Deudon-Combe, A.2    Hicks, D.3    Simonutti, M.4    Forster, V.5
  • 128
    • 0041702363 scopus 로고    scopus 로고
    • ABCR expression in foveal cone photoreceptors and its role in stargardt macular dystrophy
    • Molday LL, Rabin AR, Molday RS. 2000. ABCR expression in foveal cone photoreceptors and its role in stargardt macular dystrophy. Am. J. Ophthalmol. 130:689
    • (2000) Am. J. Ophthalmol. , vol.130 , pp. 689
    • Molday, L.L.1    Rabin, A.R.2    Molday, R.S.3
  • 129
    • 0027260399 scopus 로고
    • Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: A clinical, electro-physiological, psychophysical, and molecular genetic study
    • Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, et al. 1993. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electro-physiological, psychophysical, and molecular genetic study. Br. J. Ophthalmol. 77:473-79
    • (1993) Br. J. Ophthalmol. , vol.77 , pp. 473-479
    • Moore, A.T.1    Fitzke, F.2    Jay, M.3    Arden, G.B.4    Inglehearn, C.F.5
  • 130
    • 0032539851 scopus 로고    scopus 로고
    • Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis
    • Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. 1998. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc. Natl. Acad. Sci. USA 95:3088-93
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 3088-3093
    • Morimura, H.1    Fishman, G.A.2    Grover, S.A.3    Fulton, A.B.4    Berson, E.L.5    Dryja, T.P.6
  • 131
    • 0032708573 scopus 로고    scopus 로고
    • Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa
    • Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP. 1999. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat. Genet. 23:393-94
    • (1999) Nat. Genet. , vol.23 , pp. 393-394
    • Morimura, H.1    Saindelle-Ribeaudeau, F.2    Berson, E.L.3    Dryja, T.P.4
  • 132
    • 0035945269 scopus 로고    scopus 로고
    • Gene expression in the developing mouse retina by EST sequencing and microarray analysis
    • Mu X, Zhao S, Pershad R, Hsieh TF, Scarpa A, et al. 2001. Gene expression in the developing mouse retina by EST sequencing and microarray analysis. Nucleic Acids Res. 29:4983-93
    • (2001) Nucleic Acids Res. , vol.29 , pp. 4983-4993
    • Mu, X.1    Zhao, S.2    Pershad, R.3    Hsieh, T.F.4    Scarpa, A.5
  • 133
    • 0017119173 scopus 로고
    • Inherited retinal dystrophy: Primary defect in pigment epithelium determined with experimental rat chimeras
    • Mullen RJ, LaVail MM. 1976. Inherited retinal dystrophy: primary defect in pigment epithelium determined with experimental rat chimeras. Science 192:799-801
    • (1976) Science , vol.192 , pp. 799-801
    • Mullen, R.J.1    LaVail, M.M.2
  • 134
    • 0029972409 scopus 로고    scopus 로고
    • Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin
    • Naash ML, Peachey NS, Li ZY, Gryczan CC, Goto Y, et al. 1996. Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin. Invest. Ophthalmol. Vis. Sci. 37:775-82
    • (1996) Invest. Ophthalmol. Vis. Sci. , vol.37 , pp. 775-782
    • Naash, M.L.1    Peachey, N.S.2    Li, Z.Y.3    Gryczan, C.C.4    Goto, Y.5
  • 135
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH. 2001. Modifier genes in mice and humans. Nat. Rev. Genet. 2:165-74
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 136
    • 0031894886 scopus 로고    scopus 로고
    • Arrestin gene mutations in autosomal recessive retinitis pigmentosa
    • Nakazawa M, Wada Y, Tamai M. 1998. Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch. Ophthalmol. 116:498-501
    • (1998) Arch. Ophthalmol. , vol.116 , pp. 498-501
    • Nakazawa, M.1    Wada, Y.2    Tamai, M.3
  • 137
    • 0035168148 scopus 로고    scopus 로고
    • A thyroid hormone receptor that is required for the development of green cone photoreceptors
    • Ng L, Hurley JB, Dierks B, Srinivas M, Salto C, et al. 2001. A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nat. Genet. 27:94-98
    • (2001) Nat. Genet. , vol.27 , pp. 94-98
    • Ng, L.1    Hurley, J.B.2    Dierks, B.3    Srinivas, M.4    Salto, C.5
  • 138
    • 0029099994 scopus 로고
    • Ultrastructural features of retinal dystrophy in mutant vitiligo mice
    • Nir I, Ransom N, Smith SB. 1995. Ultrastructural features of retinal dystrophy in mutant vitiligo mice. Exp. Eye Res. 61:363-77
    • (1995) Exp. Eye Res. , vol.61 , pp. 363-377
    • Nir, I.1    Ransom, N.2    Smith, S.B.3
  • 139
    • 0018936196 scopus 로고
    • Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children
    • Nordstrom S, Thorburn W. 1980. Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children. Clin. Genet. 18:211-16
    • (1980) Clin. Genet. , vol.18 , pp. 211-216
    • Nordstrom, S.1    Thorburn, W.2
  • 140
    • 0037107418 scopus 로고    scopus 로고
    • Hierarchical, clustered protein interactions with U4/U6 snRNA: A biochemical role for U4/U6 proteins
    • Nottrott S, Urlaub H, Luhrmann R. 2002. Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins. EMBO J. 21:5527-38
    • (2002) EMBO J. , vol.21 , pp. 5527-5538
    • Nottrott, S.1    Urlaub, H.2    Luhrmann, R.3
  • 142
    • 0027967187 scopus 로고
    • Cytoplasmic retinal localization of an evolutionary homolog of the visual pigments
    • Pandey S, Blanks JC, Spee C, Jiang M, Fong HK. 1994. Cytoplasmic retinal localization of an evolutionary homolog of the visual pigments. Exp. Eye Res. 58:605-13
    • (1994) Exp. Eye Res. , vol.58 , pp. 605-613
    • Pandey, S.1    Blanks, J.C.2    Spee, C.3    Jiang, M.4    Fong, H.K.5
  • 143
    • 0037075580 scopus 로고    scopus 로고
    • Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
    • Pellikka M, Tanentzapf G, Pinto M, Smith C, McGlade CJ, et al. 2002. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis. Nature 416:143-49
    • (2002) Nature , vol.416 , pp. 143-149
    • Pellikka, M.1    Tanentzapf, G.2    Pinto, M.3    Smith, C.4    McGlade, C.J.5
  • 144
    • 0032578769 scopus 로고    scopus 로고
    • Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance
    • Pelloquin L, Belenguer P, Menon Y, Ducommun B. 1998. Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. Biochem. Biophys. Res. Commun. 251:720-26
    • (1998) Biochem. Biophys. Res. Commun. , vol.251 , pp. 720-726
    • Pelloquin, L.1    Belenguer, P.2    Menon, Y.3    Ducommun, B.4
  • 145
    • 0036471295 scopus 로고    scopus 로고
    • Patterning the neural retina
    • Peters MA. 2002. Patterning the neural retina. Curr. Opin. Neurobiol. 12:43-48
    • (2002) Curr. Opin. Neurobiol. , vol.12 , pp. 43-48
    • Peters, M.A.1
  • 146
    • 17344364275 scopus 로고    scopus 로고
    • Identification of the gene responsible for Best macular dystrophy
    • Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, et al. 1998. Identification of the gene responsible for Best macular dystrophy. Nat. Genet. 19:241-47
    • (1998) Nat. Genet. , vol.19 , pp. 241-247
    • Petrukhin, K.1    Koisti, M.J.2    Bakall, B.3    Li, W.4    Xie, G.5
  • 147
    • 0015257895 scopus 로고
    • Peroxidase diffusion in the normal and laser-coagulated primate retina
    • Peyman GA, Bok D. 1972. Peroxidase diffusion in the normal and laser-coagulated primate retina. Invest. Ophthalmol. 11:35-45
    • (1972) Invest. Ophthalmol. , vol.11 , pp. 35-45
    • Peyman, G.A.1    Bok, D.2
  • 148
    • 0034927190 scopus 로고    scopus 로고
    • Pathways to photoreceptor cell death in inherited retinal degenerations
    • Pierce EA. 2001. Pathways to photoreceptor cell death in inherited retinal degenerations. BioEssays 23:605-18
    • (2001) BioEssays , vol.23 , pp. 605-618
    • Pierce, E.A.1
  • 149
    • 0024346907 scopus 로고
    • The mammalian analogue of the yeast PRP8 splicing protein is present in the U4/5/6 small nuclear ribonucleoprotein particle and the spliceosome
    • Pinto AL, Steitz JA. 1989. The mammalian analogue of the yeast PRP8 splicing protein is present in the U4/5/6 small nuclear ribonucleoprotein particle and the spliceosome. Proc. Natl. Acad. Sci. USA 86:8742-46
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 8742-8746
    • Pinto, A.L.1    Steitz, J.A.2
  • 150
    • 0024366010 scopus 로고
    • PremRNA splicing mutants of Schizosaccharomyces pombe
    • Potashkin J, Li R, Frendewey D. 1989. PremRNA splicing mutants of Schizosaccharomyces pombe. EMBO J. 8:551-59
    • (1989) EMBO J. , vol.8 , pp. 551-559
    • Potashkin, J.1    Li, R.2    Frendewey, D.3
  • 151
    • 0026026516 scopus 로고
    • Membrane phospholipids as an energy source in the operation of the visual cycle
    • Rando RR. 1991. Membrane phospholipids as an energy source in the operation of the visual cycle. Biochemistry 30:595-602
    • (1991) Biochemistry , vol.30 , pp. 595-602
    • Rando, R.R.1
  • 152
    • 0027029211 scopus 로고
    • Molecular mechanisms in visual pigment regeneration
    • Rando RR. 1992. Molecular mechanisms in visual pigment regeneration. Photochem. Photobiol. 56:1145-56
    • (1992) Photochem. Photobiol. , vol.56 , pp. 1145-1156
    • Rando, R.R.1
  • 153
    • 0033399668 scopus 로고    scopus 로고
    • Molecular genetics of human retinal disease
    • Rattner A, Sun H, Nathans J. 1999. Molecular genetics of human retinal disease. Annu. Rev. Genet. 33:89-131
    • (1999) Annu. Rev. Genet. , vol.33 , pp. 89-131
    • Rattner, A.1    Sun, H.2    Nathans, J.3
  • 154
    • 0035794153 scopus 로고    scopus 로고
    • Identification, expression, and substrate specificity of a mammalian beta-carotene 15,15′-dioxygenase
    • Redmond TM, Gentleman S, Duncan T, Yu S, Wiggert B, et al. 2001. Identification, expression, and substrate specificity of a mammalian beta-carotene 15,15′-dioxygenase. J. Biol. Chem. 276:6560-65
    • (2001) J. Biol. Chem. , vol.276 , pp. 6560-6565
    • Redmond, T.M.1    Gentleman, S.2    Duncan, T.3    Yu, S.4    Wiggert, B.5
  • 156
    • 17344366357 scopus 로고    scopus 로고
    • Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
    • Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, et al. 1998. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet. 20:344-51
    • (1998) Nat. Genet. , vol.20 , pp. 344-351
    • Redmond, T.M.1    Yu, S.2    Lee, E.3    Bok, D.4    Hamasaki, D.5
  • 158
    • 0033525214 scopus 로고    scopus 로고
    • Molecular and biochemical characterization of lecithin retinol acyltransferase
    • Ruiz A, Winston A, Lim YH, Gilbert BA, Rando RR, Bok D. 1999. Molecular and biochemical characterization of lecithin retinol acyltransferase. J. Biol. Chem. 274:3834-41
    • (1999) J. Biol. Chem. , vol.274 , pp. 3834-3841
    • Ruiz, A.1    Winston, A.2    Lim, Y.H.3    Gilbert, B.A.4    Rando, R.R.5    Bok, D.6
  • 159
    • 0037039378 scopus 로고    scopus 로고
    • Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE)
    • Sharon D, Blackshaw S, Cepko CL, Dryja TP. 2002. Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE). Proc. Natl. Acad. Sci. USA 99:315-20
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 315-320
    • Sharon, D.1    Blackshaw, S.2    Cepko, C.L.3    Dryja, T.P.4
  • 160
    • 0032950521 scopus 로고    scopus 로고
    • The rod photorecep-tor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial
    • Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, et al. 1999. The rod photorecep-tor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 39:2537-44
    • (1999) Vision Res. , vol.39 , pp. 2537-2544
    • Shroyer, N.F.1    Lewis, R.A.2    Allikmets, R.3    Singh, N.4    Dean, M.5
  • 161
    • 0035510172 scopus 로고    scopus 로고
    • Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    • Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. 2001. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Mol. Genet. 10:2671-78
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2671-2678
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3    Wensel, T.G.4    Lupski, J.R.5
  • 163
    • 0029928997 scopus 로고    scopus 로고
    • Pigment epithelial and retinal phenotypes in the vitiligo mivit, mutant mouse
    • Sidman RL, Kosaras B, Tang M. 1996. Pigment epithelial and retinal phenotypes in the vitiligo mivit, mutant mouse. Invest. Ophthalmol. Vis. Sci. 37:1097-115
    • (1996) Invest. Ophthalmol. Vis. Sci. , vol.37 , pp. 1097-1115
    • Sidman, R.L.1    Kosaras, B.2    Tang, M.3
  • 164
    • 0027076760 scopus 로고
    • C57BL/6J-vit/vit mouse model of retinal degeneration: Light microscopic analysis and evaluation of rhodopsin levels
    • Smith SB. 1992. C57BL/6J-vit/vit mouse model of retinal degeneration: light microscopic analysis and evaluation of rhodopsin levels. Exp. Eye Res. 55:903-10
    • (1992) Exp. Eye Res. , vol.55 , pp. 903-910
    • Smith, S.B.1
  • 165
    • 0027943028 scopus 로고
    • Reduction of phagosomes in the vitiligo (C57BL/6-mivit/mivit) mouse model of retinal degeneration
    • Smith SB, Cope BK, McCoy JR, McCool DJ, Defoe DM. 1994. Reduction of phagosomes in the vitiligo (C57BL/6-mivit/mivit) mouse model of retinal degeneration. Invest. Ophthalmol. Vis. Sci. 35:3625-32
    • (1994) Invest. Ophthalmol. Vis. Sci. , vol.35 , pp. 3625-3632
    • Smith, S.B.1    Cope, B.K.2    McCoy, J.R.3    McCool, D.J.4    Defoe, D.M.5
  • 166
    • 0034086115 scopus 로고    scopus 로고
    • The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells
    • Sparrow JR, Nakanishi K, Parish CA. 2000. The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells. Invest. Ophthalmol. Vis. Sci. 41:1981-89
    • (2000) Invest. Ophthalmol. Vis. Sci. , vol.41 , pp. 1981-1989
    • Sparrow, J.R.1    Nakanishi, K.2    Parish, C.A.3
  • 168
    • 0032489021 scopus 로고    scopus 로고
    • Mechanical devices of the spliceosome: Motors, clocks, springs, and things
    • Staley JP, Guthrie C. 1998. Mechanical devices of the spliceosome: motors, clocks, springs, and things. Cell 92:315-26
    • (1998) Cell , vol.92 , pp. 315-326
    • Staley, J.P.1    Guthrie, C.2
  • 169
    • 0035475141 scopus 로고    scopus 로고
    • Molecular genetics of age-related macular degeneration
    • Stone EM, Sheffield VC, Hageman GS. 2001. Molecular genetics of age-related macular degeneration. Hum. Mol. Genet. 10:2285-92
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2285-2292
    • Stone, E.M.1    Sheffield, V.C.2    Hageman, G.S.3
  • 170
    • 0031795853 scopus 로고    scopus 로고
    • Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
    • Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, et al. 1998. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat. Genet. 20:328-29
    • (1998) Nat. Genet. , vol.20 , pp. 328-329
    • Stone, E.M.1    Webster, A.R.2    Vandenburgh, K.3    Streb, L.M.4    Hockey, R.R.5
  • 171
    • 0031230154 scopus 로고    scopus 로고
    • Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
    • Sun H, Nathans J. 1997. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat. Genet. 17:15-16
    • (1997) Nat. Genet. , vol.17 , pp. 15-16
    • Sun, H.1    Nathans, J.2
  • 172
    • 0037133670 scopus 로고    scopus 로고
    • The vitelliform maculax dystrophy protein defines a new family of chloride channels
    • Sun H, Tsunenaxi T, Yau KW, Nathans J. 2002. The vitelliform maculax dystrophy protein defines a new family of chloride channels. Proc. Natl. Acad. Sci. USA 99:4008-13
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 4008-4013
    • Sun, H.1    Tsunenaxi, T.2    Yau, K.W.3    Nathans, J.4
  • 173
    • 0036056332 scopus 로고    scopus 로고
    • Transcriptome analysis of the retina
    • Reviews1022
    • Swaroop A, Zack DJ. 2002. Transcriptome analysis of the retina. Genome Biol. 3:Reviews1022
    • (2002) Genome Biol. , vol.3
    • Swaroop, A.1    Zack, D.J.2
  • 174
    • 0027311912 scopus 로고
    • Spatial and temporal differences between the expression of short-and middle-wave sensitive cone pigments in the mouse retina: A developmental study
    • Szel A, Rohlich P, Mieziewska K, Aguirre G, van Veen T. 1993. Spatial and temporal differences between the expression of short-and middle-wave sensitive cone pigments in the mouse retina: a developmental study. J. Comp. Neurol. 331:564-77
    • (1993) J. Comp. Neurol. , vol.331 , pp. 564-577
    • Szel, A.1    Rohlich, P.2    Mieziewska, K.3    Aguirre, G.4    Van Veen, T.5
  • 175
    • 0029031713 scopus 로고
    • Extensive interactions of PRP8 protein with the 5′ and 3′ splice sites during splicing suggest a role in stabilization of exon alignment by U5 snRNA
    • Teigelkamp S, Newman AJ, Beggs JD. 1995. Extensive interactions of PRP8 protein with the 5′ and 3′ splice sites during splicing suggest a role in stabilization of exon alignment by U5 snRNA. EMBO J. 14:2602-12
    • (1995) EMBO J. , vol.14 , pp. 2602-2612
    • Teigelkamp, S.1    Newman, A.J.2    Beggs, J.D.3
  • 176
    • 0035975962 scopus 로고    scopus 로고
    • Macromolecular complexes: SMN-the master assembler
    • Terns MP, Terns RM. 2001. Macromolecular complexes: SMN-the master assembler. Curr. Biol. 11:R862-64
    • (2001) Curr. Biol. , vol.11
    • Terns, M.P.1    Terns, R.M.2
  • 177
    • 0034973574 scopus 로고    scopus 로고
    • Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
    • Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, et al. 2001. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat. Genet. 28:123-24
    • (2001) Nat. Genet. , vol.28 , pp. 123-124
    • Thompson, D.A.1    Li, Y.2    McHenry, C.L.3    Carlson, T.J.4    Ding, X.5
  • 178
    • 0036138181 scopus 로고    scopus 로고
    • Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
    • Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, et al. 2002. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am. J. Hum. Genet. 70:224-29
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 224-229
    • Thompson, D.A.1    McHenry, C.L.2    Li, Y.3    Richards, J.E.4    Othman, M.I.5
  • 180
    • 0029147808 scopus 로고
    • Fetal topography of bovine rhodopsin mRNA suggests retinotopographically determined gene expression
    • Timmers AM, Wintjes ET, Hauswirth WW. 1995. Fetal topography of bovine rhodopsin mRNA suggests retinotopographically determined gene expression. Invest. Ophthalmol. Vis. Sci. 36:2008-19
    • (1995) Invest. Ophthalmol. Vis. Sci. , vol.36 , pp. 2008-2019
    • Timmers, A.M.1    Wintjes, E.T.2    Hauswirth, W.W.3
  • 181
    • 0031966320 scopus 로고    scopus 로고
    • Mechanisms of cell death in the inherited retinal degenerations
    • Travis GH. 1998. Mechanisms of cell death in the inherited retinal degenerations. Am. J. Hum. Genet. 62:503-8
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 503-508
    • Travis, G.H.1
  • 182
    • 0029965657 scopus 로고    scopus 로고
    • Isolation of novel pre-mRNA splicing mutants of Schizosaccharomyces pombe
    • Urushiyama S, Tani T, Ohshima Y. 1996. Isolation of novel pre-mRNA splicing mutants of Schizosaccharomyces pombe. Mol. Gen. Genet. 253:118-27
    • (1996) Mol. Gen. Genet. , vol.253 , pp. 118-127
    • Urushiyama, S.1    Tani, T.2    Ohshima, Y.3
  • 183
    • 0028810876 scopus 로고
    • Topographical regulation of cone and rod opsin genes: Parallel, position dependent levels of transcription
    • van Ginkel PR, Timmers AM, Szel A, Hauswirth WW. 1995. Topographical regulation of cone and rod opsin genes: parallel, position dependent levels of transcription. Brain Res. Dev. Brain Res. 89:146-49
    • (1995) Brain Res. Dev. Brain Res. , vol.89 , pp. 146-149
    • Van Ginkel, P.R.1    Timmers, A.M.2    Szel, A.3    Hauswirth, W.W.4
  • 184
    • 0035053295 scopus 로고    scopus 로고
    • Functional contacts with a range of splicing proteins suggest a central role for Brr2p in the dynamic control of the order of events in spliceosomes of Saccharomyces cerevisiae
    • van Nues RW, Beggs JD. 2001. Functional contacts with a range of splicing proteins suggest a central role for Brr2p in the dynamic control of the order of events in spliceosomes of Saccharomyces cerevisiae. Genetics 157:1451-67
    • (2001) Genetics , vol.157 , pp. 1451-1467
    • Van Nues, R.W.1    Beggs, J.D.2
  • 185
    • 0032755703 scopus 로고    scopus 로고
    • Characterization of U6 snRNA-protein interactions
    • Vidal VP, Verdone L, Mayes AE, Beggs JD. 1999. Characterization of U6 snRNA-protein interactions. RNA 5:1470-81
    • (1999) RNA , vol.5 , pp. 1470-1481
    • Vidal, V.P.1    Verdone, L.2    Mayes, A.E.3    Beggs, J.D.4
  • 186
    • 17944379537 scopus 로고    scopus 로고
    • A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
    • Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, et al. 2001. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol. Cell 8:375-81
    • (2001) Mol. Cell , vol.8 , pp. 375-381
    • Vithana, E.N.1    Abu-Safieh, L.2    Allen, M.J.3    Carey, A.4    Papaioannou, M.5
  • 187
    • 0035940504 scopus 로고    scopus 로고
    • Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk
    • Vollrath D, Feng W, Duncan JL, Yasumura D, D'Cruz PM, et al. 2001. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Natl. Acad. Sci. USA 98:12,584-89
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 12
    • Vollrath, D.1    Feng, W.2    Duncan, J.L.3    Yasumura, D.4    D'Cruz, P.M.5
  • 188
    • 0037893667 scopus 로고    scopus 로고
    • Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time
    • von Ruckmann A, Fitzke FW, Bird AC. 1999. Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time. Graefes Arch. Clin. Exp. Ophthalmol. 237:1-9
    • (1999) Graefes Arch. Clin. Exp. Ophthalmol. , vol.237 , pp. 1-9
    • Von Ruckmann, A.1    Fitzke, F.W.2    Bird, A.C.3
  • 189
    • 0033557499 scopus 로고    scopus 로고
    • Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-oculax human tissue
    • Wang J, Chai X, Eriksson U, Napoli JL. 1999. Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-oculax human tissue. Biochem. J. 338:23-27
    • (1999) Biochem. J. , vol.338 , pp. 23-27
    • Wang, J.1    Chai, X.2    Eriksson, U.3    Napoli, J.L.4
  • 190
    • 0030808480 scopus 로고    scopus 로고
    • Expression of a mutant opsin gene increases the susceptibility of the retina to light damage
    • Wang M, Lam TT, Tso MO, Naash MI. 1997. Expression of a mutant opsin gene increases the susceptibility of the retina to light damage. Vis. Neurosci. 14:55-62
    • (1997) Vis. Neurosci. , vol.14 , pp. 55-62
    • Wang, M.1    Lam, T.T.2    Tso, M.O.3    Naash, M.I.4
  • 191
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber BH, Vogt G, Pruett RC, Stohr H, Felbor U. 1994. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat. Genet. 8:352-56
    • (1994) Nat. Genet. , vol.8 , pp. 352-356
    • Weber, B.H.1    Vogt, G.2    Pruett, R.C.3    Stohr, H.4    Felbor, U.5
  • 192
    • 0030927321 scopus 로고    scopus 로고
    • Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae
    • Weidenhammer EM, Ruiz-Noriega M, Woolford JL Jr. 1997. Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae. Mol. Cell Biol. 17:3580-88
    • (1997) Mol. Cell Biol. , vol.17 , pp. 3580-3588
    • Weidenhammer, E.M.1    Ruiz-Noriega, M.2    Woolford J.L., Jr.3
  • 193
    • 0029874329 scopus 로고    scopus 로고
    • The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae
    • Weidenhammer EM, Singh M, Ruiz-Noriega M, Woolford JL Jr. 1996. The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic Acids Res. 24:1164-70
    • (1996) Nucleic Acids Res. , vol.24 , pp. 1164-1170
    • Weidenhammer, E.M.1    Singh, M.2    Ruiz-Noriega, M.3    Woolford J.L., Jr.4
  • 194
    • 0027434085 scopus 로고
    • Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
    • Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. 1993. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch. Ophthalmol. 111:1531-42
    • (1993) Arch. Ophthalmol. , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphey, W.H.3    Sheffield, V.C.4    Stone, E.M.5
  • 195
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. 1999. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98:13-23
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6
  • 196
    • 0035144779 scopus 로고    scopus 로고
    • The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration
    • Wenzel A, Reme CE, Williams TP, Hafezi F, Grimm C. 2001. The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration. J. Neurosci. 21:53-58
    • (2001) J. Neurosci. , vol.21 , pp. 53-58
    • Wenzel, A.1    Reme, C.E.2    Williams, T.P.3    Hafezi, F.4    Grimm, C.5
  • 197
    • 0029881620 scopus 로고    scopus 로고
    • Sorsby's fundus dystrophy in the British Isles: Demonstration of a striking founder effect by microsatellite-generated haplotypes
    • Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BH, et al. 1996. Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res. 6:92-101
    • (1996) Genome Res. , vol.6 , pp. 92-101
    • Wijesuriya, S.D.1    Evans, K.2    Jay, M.R.3    Davison, C.4    Weber, B.H.5
  • 198
  • 199
    • 0035370526 scopus 로고    scopus 로고
    • Spliceosomal UsnRNP biogenesis, structure and function
    • Will CL, Luhrmann R. 2001. Spliceosomal UsnRNP biogenesis, structure and function. Curr. Opin. Cell Biol. 13:290-301
    • (2001) Curr. Opin. Cell Biol. , vol.13 , pp. 290-301
    • Will, C.L.1    Luhrmann, R.2
  • 200
    • 0031963833 scopus 로고    scopus 로고
    • Natural variation in neuron number in mice is linked to a major quantitative trait locus on Chr 11
    • Williams RW, Strom RC, Goldowitz D. 1998. Natural variation in neuron number in mice is linked to a major quantitative trait locus on Chr 11. J. Neurosci. 18:138-46
    • (1998) J. Neurosci. , vol.18 , pp. 138-146
    • Williams, R.W.1    Strom, R.C.2    Goldowitz, D.3
  • 201
    • 0029838709 scopus 로고    scopus 로고
    • A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1
    • Xu SY, Schwartz M, Rosenberg T, Gal A. 1996. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Hum. Mol. Genet. 5:1193-97
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1193-1197
    • Xu, S.Y.1    Schwartz, M.2    Rosenberg, T.3    Gal, A.4
  • 202
    • 0033033364 scopus 로고    scopus 로고
    • Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
    • Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. 1999. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat. Genet. 22:188-91
    • (1999) Nat. Genet. , vol.22 , pp. 188-191
    • Yamamoto, H.1    Simon, A.2    Eriksson, U.3    Harris, E.4    Berson, E.L.5    Dryja, T.P.6
  • 204
    • 0014972425 scopus 로고
    • Shedding of discs from rod outer segments in the rhesus monkey
    • Young RW. 1971. Shedding of discs from rod outer segments in the rhesus monkey. J. Ultrastruct. Res. 34:190-203
    • (1971) J. Ultrastruct. Res. , vol.34 , pp. 190-203
    • Young, R.W.1
  • 205
    • 0017177041 scopus 로고
    • Visual cells and the concept of renewal
    • Young RW. 1976. Visual cells and the concept of renewal. Invest. Ophthalmol. Vis. Sci. 15:700-25
    • (1976) Invest. Ophthalmol. Vis. Sci. , vol.15 , pp. 700-725
    • Young, R.W.1
  • 206
    • 0014558288 scopus 로고
    • Participation of the retinal pigment epithelium in the rod outer segment renewal process
    • Young RW, Bok D. 1969. Participation of the retinal pigment epithelium in the rod outer segment renewal process. J. Cell Biol. 42:392-403
    • (1969) J. Cell Biol. , vol.42 , pp. 392-403
    • Young, R.W.1    Bok, D.2
  • 207
    • 0026090702 scopus 로고
    • Unusual topography of bovine rhodopsin promoter-lacZ fusion gene expression in transgenic mouse retinas
    • Zack DJ, Bennett J, Wang Y, Davenport C, Klaunberg B, et al. 1991. Unusual topography of bovine rhodopsin promoter-lacZ fusion gene expression in transgenic mouse retinas. Neuron 6:187-99
    • (1991) Neuron , vol.6 , pp. 187-199
    • Zack, D.J.1    Bennett, J.2    Wang, Y.3    Davenport, C.4    Klaunberg, B.5
  • 208
    • 0033199359 scopus 로고    scopus 로고
    • The ABCR gene in recessive and dominant Stargardt diseases: A genetic pathway in macular degeneration
    • Zhang K, Kniazeva M, Hutchinson A, Han M, Dean M, Allikmets R. 1999. The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. Genomics 60:234-37
    • (1999) Genomics , vol.60 , pp. 234-237
    • Zhang, K.1    Kniazeva, M.2    Hutchinson, A.3    Han, M.4    Dean, M.5    Allikmets, R.6


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