메뉴 건너뛰기




Volumn 64, Issue 2, 1999, Pages 422-434

Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; ADENOSINE TRIPHOSPHATE;

EID: 0033071210     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302251     Document Type: Article
Times cited : (269)

References (40)
  • 2
    • 0029820166 scopus 로고    scopus 로고
    • Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database
    • Allikmets R, Gerrard B, Hutchinson A, Dean M (1996) Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the Expressed Sequence Tags database. Hum Mol Genet 5:1649-1655
    • (1996) Hum Mol Genet , vol.5 , pp. 1649-1655
    • Allikmets, R.1    Gerrard, B.2    Hutchinson, A.3    Dean, M.4
  • 4
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Correction [1977] Nat Genet 17:122
    • Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, et al (1997b) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246 (Correction [1977] Nat Genet 17:122)
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3    Shroyer, N.F.4    Hutchinson, A.5    Chidambaram, A.6    Gerrard, B.7
  • 7
    • 0031940916 scopus 로고    scopus 로고
    • Long-term follow-up of Stargardt's disease and fundus flavimaculatus
    • Armstrong JD, Meyer D, Xu S, Elfervig JL (1998) Long-term follow-up of Stargardt's disease and fundus flavimaculatus. Ophthalmology 105:448-458
    • (1998) Ophthalmology , vol.105 , pp. 448-458
    • Armstrong, J.D.1    Meyer, D.2    Xu, S.3    Elfervig, J.L.4
  • 8
    • 0031903140 scopus 로고    scopus 로고
    • The human photoreceptor rim protein gene (ABCR): Genomic structure and primer set information for mutation analysis
    • Azarian SM, Megarity CF, Weng J, Horvath DH, Travis GH (1998) The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis. Hum Genet 102:699-705
    • (1998) Hum Genet , vol.102 , pp. 699-705
    • Azarian, S.M.1    Megarity, C.F.2    Weng, J.3    Horvath, D.H.4    Travis, G.H.5
  • 9
    • 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 409:247-252
    • (1997) FEBS Lett , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 10
    • 0002468579 scopus 로고
    • Fundus flavimaculatus
    • Newsome DA (ed). Raven Press, New York
    • Blacharski PA (1988) Fundus flavimaculatus. In: Newsome DA (ed) Retinal dystrophies and degenerations. Raven Press, New York, pp 135-159
    • (1988) Retinal Dystrophies and Degenerations , pp. 135-159
    • Blacharski, P.A.1
  • 12
    • 0018185292 scopus 로고
    • Molecular basis of base substitution hotspots in Escherichia coli
    • Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775-780
    • (1978) Nature , vol.274 , pp. 775-780
    • Coulondre, C.1    Miller, J.H.2    Farabaugh, P.J.3    Gilbert, W.4
  • 14
    • 0030759333 scopus 로고    scopus 로고
    • Prediction of transmembrane α-helices in prokaryotic membrane proteins: The dense alignment surface method
    • Cserzo M, Wallin E, Simon I, von Heijne G, Elofsson A (1997) Prediction of transmembrane α-helices in prokaryotic membrane proteins: the dense alignment surface method. Protein Eng 10:673-676
    • (1997) Protein Eng , vol.10 , pp. 673-676
    • Cserzo, M.1    Wallin, E.2    Simon, I.3    Von Heijne, G.4    Elofsson, A.5
  • 15
    • 0029586715 scopus 로고
    • Evolution of ATP-binding cassette transporter genes
    • Dean M, Allikmets R (1995) Evolution of ATP-binding cassette transporter genes. Curr Opin Genet Dev 5:779-785
    • (1995) Curr Opin Genet Dev , vol.5 , pp. 779-785
    • Dean, M.1    Allikmets, R.2
  • 17
    • 0002204117 scopus 로고
    • Über tapeto-retinale degenerationen im kindesalter
    • von Sautter H (ed). Ferdinand Enke Verlag, Stuttgart
    • Franceschetti A (1963) Über tapeto-retinale Degenerationen im Kindesalter. In: von Sautter H (ed) Entwicklung und Fortschritt in der Augenheilkunde. Ferdinand Enke Verlag, Stuttgart, pp 107-120
    • (1963) Entwicklung und Fortschritt in der Augenheilkunde , pp. 107-120
    • Franceschetti, A.1
  • 18
    • 0022405410 scopus 로고
    • A clinical review of stargardt's disease and/or fundus flavimaculatus with follow-up
    • Gelisken O, DeLaey JJ (1985) A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up. Int Ophthalmol 8:225-236
    • (1985) Int Ophthalmol , vol.8 , pp. 225-236
    • Gelisken, O.1    DeLaey, J.J.2
  • 20
    • 0031913443 scopus 로고    scopus 로고
    • Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease
    • Gerber S, Rozet JM, van de Pol TJR, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, et al (1998) Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 48:139-142
    • (1998) Genomics , vol.48 , pp. 139-142
    • Gerber, S.1    Rozet, J.M.2    Van De Pol, T.J.R.3    Hoyng, C.B.4    Munnich, A.5    Blankenagel, A.6    Kaplan, J.7
  • 21
    • 0017191706 scopus 로고
    • Fundus flavimaculatus and Stargardt's disease
    • Hadden OB, Gass JDM (1976) Fundus flavimaculatus and Stargardt's disease. Am J Ophthalmol 82:527-539
    • (1976) Am J Ophthalmol , vol.82 , pp. 527-539
    • Hadden, O.B.1    Gass, J.D.M.2
  • 23
    • 0030969303 scopus 로고    scopus 로고
    • The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
    • Illing M, Molday LL, Molday RS (1997) The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem 272: 10303-10310
    • (1997) J Biol Chem , vol.272 , pp. 10303-10310
    • Illing, M.1    Molday, L.L.2    Molday, R.S.3
  • 25
    • 0014108191 scopus 로고
    • Fundus flavimaculatus: Clinical, functional and histopathologic observations
    • Klein BA, Krill AE (1967) Fundus flavimaculatus: clinical, functional and histopathologic observations. Am J Ophthalmol 64:3-23
    • (1967) Am J Ophthalmol , vol.64 , pp. 3-23
    • Klein, B.A.1    Krill, A.E.2
  • 26
    • 0026681119 scopus 로고
    • Prevalence of age-related maculopathy: The Beaver Dam eye study
    • Klein R, Klein BEK, Linton KLP (1992) Prevalence of age-related maculopathy: the Beaver Dam eye study. Ophthalmology 99:933-943
    • (1992) Ophthalmology , vol.99 , pp. 933-943
    • Klein, R.1    Klein, B.E.K.2    Linton, K.L.P.3
  • 27
    • 0017895896 scopus 로고
    • Subretinal neovascularization associated with fundus flavimaculatus
    • Klein R, Lewis RA, Myers SM, Myers FL (1978) Subretinal neovascularization associated with fundus flavimaculatus. Arch Ophthalmol 96:2054-2057
    • (1978) Arch Ophthalmol , vol.96 , pp. 2054-2057
    • Klein, R.1    Lewis, R.A.2    Myers, S.M.3    Myers, F.L.4
  • 32
    • 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
  • 33
    • 0018308824 scopus 로고
    • Stargardt's disease and fundus flavimaculatus
    • Noble KG, Carr RE (1979) Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol 97:1281-1285
    • (1979) Arch Ophthalmol , vol.97 , pp. 1281-1285
    • Noble, K.G.1    Carr, R.E.2
  • 34
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, et al (1993) Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3    Kulpa, D.A.4    Wise, C.A.5    Mueller, J.6    Welcher, A.A.7
  • 36
    • 0031569858 scopus 로고    scopus 로고
    • Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human
    • Savary S, Allikmets R, Denizot F, Luciani M-F, Mattei M-G, Dean M, Chimini G (1997) Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Genomics 41:275-278
    • (1997) Genomics , vol.41 , pp. 275-278
    • Savary, S.1    Allikmets, R.2    Denizot, F.3    Luciani, M.-F.4    Mattei, M.-G.5    Dean, M.6    Chimini, G.7
  • 37
    • 34347130460 scopus 로고
    • Über familiäre, progressive degeneration in der Maculagegend des auges
    • Stargardt K (1909) Über familiäre, progressive Degeneration in der Maculagegend des Auges. Albrecht von Graefes Arch Ophthalmol 71:534-550
    • (1909) Albrecht Von Graefes Arch Ophthalmol , vol.71 , pp. 534-550
    • Stargardt, K.1
  • 38
    • 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
  • 39
    • 0029831329 scopus 로고    scopus 로고
    • Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases
    • Weber BHF, Sander S, Kopp C, Walker D, Eckstein A, Wissinger B, Zrenner E, et al (1996) Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases. Br J Ophthalmol 80:745-749
    • (1996) Br J Ophthalmol , vol.80 , pp. 745-749
    • Weber, B.H.F.1    Sander, S.2    Kopp, C.3    Walker, D.4    Eckstein, A.5    Wissinger, B.6    Zrenner, E.7
  • 40
    • 0029616734 scopus 로고
    • Cystic fibrosis: Genotypic and phenotypic variations
    • Zielenski J, Tsui L-C (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29:777-807
    • (1995) Annu Rev Genet , vol.29 , pp. 777-807
    • Zielenski, J.1    Tsui, L.-C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.