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Volumn 255, Issue , 2003, Pages 68-79

The expanding roles of ABCA4 and CRB1 in inherited blindness

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EID: 33751555201     PISSN: 15282511     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article
Times cited : (20)

References (39)
  • 1
    • 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 67:487-491
    • (2000) Am J Hum Genet , vol.67 , pp. 487-491
    • Allikmets, R.1
  • 3
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets R, Singh N, Sun H et al 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 5
    • 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 FPM, van de Pol DJR, van Driel M 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 7:355-362
    • (1998) Hum Mol Genet , vol.7 , pp. 355-362
    • Cremers, F.P.M.1    Van De Pol, D.J.R.2    Van Driel, M.3
  • 7
    • 0032833350 scopus 로고    scopus 로고
    • Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
    • den Hollander AI, ten Brink JB, de Kok YJM et al 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet 23:217-221
    • (1999) Nat Genet , vol.23 , pp. 217-221
    • Den Hollander, A.I.1    Ten Brink, J.B.2    De Kok, Y.J.M.3
  • 8
    • 0034964652 scopus 로고    scopus 로고
    • Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    • den Hollander AI, Heckenlively JR, van den Born LI et al 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet 69:198-203
    • (2001) Am J Hum Genet , vol.69 , pp. 198-203
    • Den Hollander, A.I.1    Heckenlively, J.R.2    Van Den Born, L.I.3
  • 9
    • 0032900958 scopus 로고    scopus 로고
    • Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
    • Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR 1999 Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 117:504-510
    • (1999) Arch Ophthalmol , vol.117 , pp. 504-510
    • Fishman, G.A.1    Stone, E.M.2    Grover, S.3    Derlacki, D.J.4    Haines, H.L.5    Hockey, R.R.6
  • 10
    • 0036728685 scopus 로고    scopus 로고
    • ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa
    • Fukui T, Yamamoto S, Nakano K et al 2002 ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci 43:2819-2824
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 2819-2824
    • Fukui, T.1    Yamamoto, S.2    Nakano, K.3
  • 11
    • 0020038868 scopus 로고
    • Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa
    • Heckenlively JR 1982 Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa. Brit J Ophthalmol 66:26-30
    • (1982) Brit J Ophthalmol , vol.66 , pp. 26-30
    • Heckenlively, J.R.1
  • 12
    • 0037075546 scopus 로고    scopus 로고
    • Drosophila crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres
    • Izaddoost S, Nam S-C, Bhat MA, Bellen HJ, Choi K-W 2002 Drosophila crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres. Nature 416:178-182
    • (2002) Nature , vol.416 , pp. 178-182
    • Izaddoost, S.1    Nam, S.-C.2    Bhat, M.A.3    Bellen, H.J.4    Choi, K.-W.5
  • 13
    • 0036795371 scopus 로고    scopus 로고
    • Drosophila crumbs is required to inhibit light-induced photoreceptor degeneration
    • Johnson K, Grawe F, Grzeschik N, Knust E 2002 Drosophila crumbs is required to inhibit light-induced photoreceptor degeneration. Curr Biol 12:1675-1680
    • (2002) Curr Biol , vol.12 , pp. 1675-1680
    • Johnson, K.1    Grawe, F.2    Grzeschik, N.3    Knust, E.4
  • 15
    • 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 et al 1999 Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 64:422-434
    • (1999) Am J Hum Genet , vol.64 , pp. 422-434
    • Lewis, R.A.1    Shroyer, N.F.2    Singh, N.3
  • 16
    • 0035090259 scopus 로고    scopus 로고
    • Mutations in the CRB1 gene cause Leber congenital amaurosis
    • Lotery AJ, Jacobson SG, Fishman GA et al 2001 Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 119:415-420
    • (2001) Arch Ophthalmol , vol.119 , pp. 415-420
    • Lotery, A.J.1    Jacobson, S.G.2    Fishman, G.A.3
  • 17
    • 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 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
  • 18
    • 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 97:7154-7159
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 7154-7159
    • Mata, N.L.1    Weng, J.2    Travis, G.H.3
  • 19
    • 0033237315 scopus 로고    scopus 로고
    • The 2588G > C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease
    • Maugeri A, van Driel MA, van de Pol DJR et al 1999 The 2588G > C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 64:1024-1035
    • (1999) Am J Hum Genet , vol.64 , pp. 1024-1035
    • Maugeri, A.1    Van Driel, M.A.2    Van De Pol, D.J.R.3
  • 20
    • 0033794939 scopus 로고    scopus 로고
    • Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
    • Maugeri A, Klevering BJ, Rohrschneider K et al 2000 Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet 67:960-966
    • (2000) Am J Hum Genet , vol.67 , pp. 960-966
    • Maugeri, A.1    Klevering, B.J.2    Rohrschneider, K.3
  • 21
    • 85047697453 scopus 로고    scopus 로고
    • The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
    • Maugeri A, Flothmann K, Hemmrich N et al 2002 The ABCA4 2588G > C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 10:197-203
    • (2002) Eur J Hum Genet , vol.10 , pp. 197-203
    • Maugeri, A.1    Flothmann, K.2    Hemmrich, N.3
  • 22
    • 0033936893 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. Nat Genet 25:257-258
    • (2000) Nat Genet , vol.25 , pp. 257-258
    • Molday, L.L.1    Rabin, A.R.2    Molday, R.S.3
  • 23
    • 0031922842 scopus 로고    scopus 로고
    • Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
    • Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BHF 1998 Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum Genet 102:21-26
    • (1998) Hum Genet , vol.102 , pp. 21-26
    • Nasonkin, I.1    Illing, M.2    Koehler, M.R.3    Schmid, M.4    Molday, R.S.5    Weber, B.H.F.6
  • 24
    • 0342467891 scopus 로고    scopus 로고
    • Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies
    • Paloma E, Martinez-Mir A, Vilageliu L, Gonzalez-Duarte R, Balcells S 2001 Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Hum Mutat 17:504-510
    • (2001) Hum Mutat , vol.17 , pp. 504-510
    • Paloma, E.1    Martinez-Mir, A.2    Vilageliu, L.3    Gonzalez-Duarte, R.4    Balcells, S.5
  • 25
    • 0033988793 scopus 로고    scopus 로고
    • An analysis of ABCR mutations in British patients with recessive retinal dystrophies
    • Papaioannou M, Ocaka L, Bessant D et al 2000 An analysis of ABCR mutations in British patients with recessive retinal dystrophies. Invest Ophthalmol Vis Sci 41:16-19
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 16-19
    • Papaioannou, M.1    Ocaka, L.2    Bessant, D.3
  • 26
    • 0037075580 scopus 로고    scopus 로고
    • Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
    • Pellikka M, Tanentzapf G, Pinto M et al 2002 Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis. Nature 416:143-149
    • (2002) Nature , vol.416 , pp. 143-149
    • Pellikka, M.1    Tanentzapf, G.2    Pinto, M.3
  • 27
    • 0033804333 scopus 로고    scopus 로고
    • A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
    • Rivera A, White K, Stohr H et al 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet 67:800-813
    • (2000) Am J Hum Genet , vol.67 , pp. 800-813
    • Rivera, A.1    White, K.2    Stohr, H.3
  • 28
    • 13144294983 scopus 로고    scopus 로고
    • Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
    • Rozet J-M, Gerber S, Souied E et al 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 6:291-295
    • (1998) Eur J Hum Genet , vol.6 , pp. 291-295
    • Rozet, J.-M.1    Gerber, S.2    Souied, E.3
  • 29
    • 0032998027 scopus 로고    scopus 로고
    • Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: Evidence of clinical heterogeneity at this locus
    • Rozet J-M, Gerber S, Ghazi I et al 1999 Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. J Med Genet 36:447-451
    • (1999) J Med Genet , vol.36 , pp. 447-451
    • Rozet, J.-M.1    Gerber, S.2    Ghazi, I.3
  • 30
    • 0036698193 scopus 로고    scopus 로고
    • Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)
    • Rudolph G, Kalpadakis P, Haritoglou C, Rivera A, Weber BH 2002 Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19). Klin Monatsbl Augenheilkd 219:590-596
    • (2002) Klin Monatsbl Augenheilkd , vol.219 , pp. 590-596
    • Rudolph, G.1    Kalpadakis, P.2    Haritoglou, C.3    Rivera, A.4    Weber, B.H.5
  • 31
    • 0032950521 scopus 로고    scopus 로고
    • The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial
    • Shroyer NF, Lewis RA, Allikmets R et al 1999 The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res 39:2537-2544
    • (1999) Vision Res , vol.39 , pp. 2537-2544
    • Shroyer, N.F.1    Lewis, R.A.2    Allikmets, R.3
  • 32
    • 0034758592 scopus 로고    scopus 로고
    • Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa
    • Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR 2001 Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci 42:2757-2761
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 2757-2761
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3    Lupski, J.R.4
  • 33
    • 0034060144 scopus 로고    scopus 로고
    • New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease
    • Simonelli F, Testa F, de Crecchio G et al 2000 New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol Vis Sci 41:892-897
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 892-897
    • Simonelli, F.1    Testa, F.2    De Crecchio, G.3
  • 34
    • 0000761427 scopus 로고    scopus 로고
    • Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
    • Sun H, Molday RS, Nathans J 1999 Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 274:8269-8281
    • (1999) J Biol Chem , vol.274 , pp. 8269-8281
    • Sun, H.1    Molday, R.S.2    Nathans, J.3
  • 35
    • 0033775698 scopus 로고    scopus 로고
    • Biochemical defects in ABCR protein variants associated with human retinopathies
    • Sun H, Smallwood PM, Nathans J 2000 Biochemical defects in ABCR protein variants associated with human retinopathies. Nat Genet 26:242-246
    • (2000) Nat Genet , vol.26 , pp. 242-246
    • Sun, H.1    Smallwood, P.M.2    Nathans, J.3
  • 38
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in aber 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 aber 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
  • 39
    • 0035012846 scopus 로고    scopus 로고
    • Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
    • Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR 2001 Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet 108:346-355
    • (2001) Hum Genet , vol.108 , pp. 346-355
    • Yatsenko, A.N.1    Shroyer, N.F.2    Lewis, R.A.3    Lupski, J.R.4


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