메뉴 건너뛰기




Volumn 110, Issue 3, 2003, Pages 549-558

Clinicopathologic effects of mutant GUCY2D in leber congenital amaurosis

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY SPECIFICITY; ARTICLE; CADAVER; CASE REPORT; COMPARATIVE ANATOMY; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GUCY2D GENE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; LEBER CONGENITAL AMAUROSIS; LIGHT; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA CELL; RETINA CONE; RETINA DEGENERATION; RETINA MACULA DEGENERATION; RETINA ROD; SCHOOL CHILD; TISSUE SPECIFICITY; VISION;

EID: 0037370521     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(02)01757-8     Document Type: Article
Times cited : (47)

References (74)
  • 1
    • 51249193206 scopus 로고
    • Ueber Retinitis pigmentosa und angeborene Amaurose
    • Leber T. Ueber Retinitis pigmentosa und angeborene Amaurose. Albrecht von Graefes Arch Ophthalmol 1869;15:1-25.
    • (1869) Albrecht Von Graefes Arch Ophthalmol , vol.15 , pp. 1-25
    • Leber, T.1
  • 2
    • 0000840396 scopus 로고
    • Ueber anomale Formen der Retinitis pigmentosa
    • Leber T. Ueber anomale Formen der Retinitis pigmentosa. Albrecht von Graefes Arch Ophthalmol 1871;17:314-41.
    • (1871) Albrecht Von Graefes Arch Ophthalmol , vol.17 , pp. 314-341
    • Leber, T.1
  • 5
    • 0024996675 scopus 로고
    • Clinical and genetic heterogeneity in retinitis pigmentosa
    • Kaplan J, Bonneau D, Frezal J, et al. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 1990;85:635-42.
    • (1990) Hum Genet , vol.85 , pp. 635-642
    • Kaplan, J.1    Bonneau, D.2    Frezal, J.3
  • 6
    • 0035095838 scopus 로고    scopus 로고
    • Implications of genetic analysis in Leber congenital amaurosis
    • Gamm DM, Thliveris AT. Implications of genetic analysis in Leber congenital amaurosis [editorial]. Arch Ophthalmol 2001;119:426-7.
    • (2001) Arch Ophthalmol , vol.119 , pp. 426-427
    • Gamm, D.M.1    Thliveris, A.T.2
  • 7
    • 0034528347 scopus 로고    scopus 로고
    • Regulation of cGMP synthesis in photoreceptors: Role in signal transduction and congenital diseases of the retina
    • Dizhoor AM. Regulation of cGMP synthesis in photoreceptors: role in signal transduction and congenital diseases of the retina. Cell Signal 2000;12:711-9.
    • (2000) Cell Signal , vol.12 , pp. 711-719
    • Dizhoor, A.M.1
  • 9
    • 16144363583 scopus 로고    scopus 로고
    • Retinal-specific guanylate cyclase gene mutations in Leber congenital amaurosis
    • Perrault I, Rozet JM, Calvas P, et al. Retinal-specific guanylate cyclase gene mutations in Leber congenital amaurosis. Nat Genet 1996;14:461-4.
    • (1996) Nat Genet , vol.14 , pp. 461-464
    • Perrault, I.1    Rozet, J.M.2    Calvas, P.3
  • 10
    • 0033870580 scopus 로고    scopus 로고
    • Spectrum of retGC1 mutations in Leber's congenital amaurosis
    • Perrault I, Rozet JM, Gerber S, et al. Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur J Hum Genet 2000;8:578-82.
    • (2000) Eur J Hum Genet , vol.8 , pp. 578-582
    • Perrault, I.1    Rozet, J.M.2    Gerber, S.3
  • 11
    • 0034127482 scopus 로고    scopus 로고
    • Mutation analysis of three genes in patients with Leber congenital amaurosis
    • Lotery AJ, Namperumalsamy P, Jacobson SG, et al. Mutation analysis of three genes in patients with Leber congenital amaurosis. Arch Ophthalmol 2000;118:538-43.
    • (2000) Arch Ophthalmol , vol.118 , pp. 538-543
    • Lotery, A.J.1    Namperumalsamy, P.2    Jacobson, S.G.3
  • 12
    • 0035034371 scopus 로고    scopus 로고
    • Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to Leber congenital amaurosis (LCA)
    • Rozet JM, Perrault I, Gerber S, et al. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to Leber congenital amaurosis (LCA). Invest Ophthalmol Vis Sci 2001;42:1190-2.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1190-1192
    • Rozet, J.M.1    Perrault, I.2    Gerber, S.3
  • 13
    • 0031252434 scopus 로고    scopus 로고
    • Mutations in RPE65 cause Leber's congenital amaurosis [letter]
    • Marlhens F, Bareil C, Griffoin JM, et al. Mutations in RPE65 cause Leber's congenital amaurosis [letter]. Nat Genet 1997;17:139-41.
    • (1997) Nat Genet , vol.17 , pp. 139-141
    • Marlhens, F.1    Bareil, C.2    Griffoin, J.M.3
  • 14
    • 0033362015 scopus 로고    scopus 로고
    • Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
    • Perrault I, Rozet JM, Ghazi I, et al. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis [letter]. Am J Hum Genet 1999;64:1225-8.
    • (1999) Am J Hum Genet , vol.64 , pp. 1225-1228
    • Perrault, I.1    Rozet, J.M.2    Ghazi, I.3
  • 15
    • 0031255068 scopus 로고    scopus 로고
    • Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    • Gu SM, Thompson DA, Srikumari CRS, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 1997;17:194-7.
    • (1997) Nat Genet , vol.17 , pp. 194-197
    • Gu, S.M.1    Thompson, D.A.2    Srikumari, C.R.S.3
  • 16
    • 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, et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA 1998;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
  • 17
    • 0035434629 scopus 로고    scopus 로고
    • Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
    • Simovich MJ, Miller B, Ezzeldin H, et al. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Hum Mutat 2001;18:164.
    • (2001) Hum Mutat , vol.18 , pp. 164
    • Simovich, M.J.1    Miller, B.2    Ezzeldin, H.3
  • 18
    • 0033653161 scopus 로고    scopus 로고
    • Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
    • Thompson DA, Gyurus P, Fleischer LL, et al. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 2000;41:4293-9.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 4293-4299
    • Thompson, D.A.1    Gyurus, P.2    Fleischer, L.L.3
  • 19
    • 0033862099 scopus 로고    scopus 로고
    • Early-onset severe rod-cone dystrophy in young children with RPE65 mutations
    • Lorenz B, Gyurus P, Preising M, et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci 2000;41:2735-42.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 2735-2742
    • Lorenz, B.1    Gyurus, P.2    Preising, M.3
  • 20
    • 0032037626 scopus 로고    scopus 로고
    • De novo mutations in the CRX homeobox gene association with Leber congenital amaurosis
    • Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene association with Leber congenital amaurosis [letter]. Nat Genet 1998;18:311-2.
    • (1998) Nat Genet , vol.18 , pp. 311-312
    • Freund, C.L.1    Wang, Q.L.2    Chen, S.3
  • 21
    • 0035162582 scopus 로고    scopus 로고
    • Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
    • Sohocki MM, Daiger SP, Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 2001;17:42-51.
    • (2001) Hum Mutat , vol.17 , pp. 42-51
    • Sohocki, M.M.1    Daiger, S.P.2    Bowne, S.J.3
  • 22
    • 0031790083 scopus 로고    scopus 로고
    • Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene
    • Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci 1998;39:2417-26.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2417-2426
    • Jacobson, S.G.1    Cideciyan, A.V.2    Huang, Y.3
  • 23
    • 0032929074 scopus 로고    scopus 로고
    • Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
    • Swaroop A, Wang QL, Wu W, et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 1999;8:299-305.
    • (1999) Hum Mol Genet , vol.8 , pp. 299-305
    • Swaroop, A.1    Wang, Q.L.2    Wu, W.3
  • 24
    • 0035206015 scopus 로고    scopus 로고
    • Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX
    • Rivolta C, Berson EL, Dryja TP. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Hum Mutat 2001;18:488-98.
    • (2001) Hum Mutat , vol.18 , pp. 488-498
    • Rivolta, C.1    Berson, E.L.2    Dryja, T.P.3
  • 25
    • 6544229081 scopus 로고    scopus 로고
    • Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration
    • Lewis CA, Batlle IR, Batlle KG, et al. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Invest Ophthalmol Vis Sci 1999;40:2106-14.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2106-2114
    • Lewis, C.A.1    Batlle, I.R.2    Batlle, K.G.3
  • 26
    • 0033985972 scopus 로고    scopus 로고
    • Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
    • Sohocki MM, Bowne SJ, Sullivan LS, et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 2000;24:79-83.
    • (2000) Nat Genet , vol.24 , pp. 79-83
    • Sohocki, M.M.1    Bowne, S.J.2    Sullivan, L.S.3
  • 27
    • 0035722135 scopus 로고    scopus 로고
    • Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
    • Damji KF, Sohocki MM, Khan R, et al. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. Can J Ophthalmol 2001;36:252-9.
    • (2001) Can J Ophthalmol , vol.36 , pp. 252-259
    • Damji, K.F.1    Sohocki, M.M.2    Khan, R.3
  • 28
    • 0035004268 scopus 로고    scopus 로고
    • Null RPGRIP1 alleles in patients with Leber congenital amaurosis
    • Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001;68:1295-8.
    • (2001) Am J Hum Genet , vol.68 , pp. 1295-1298
    • Dryja, T.P.1    Adams, S.M.2    Grimsby, J.L.3
  • 29
    • 17944371280 scopus 로고    scopus 로고
    • Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    • Gerber S, Perrault I, Hanein S, et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Gene 2001;9:561-71.
    • (2001) Eur J Hum Gene , vol.9 , pp. 561-571
    • Gerber, S.1    Perrault, I.2    Hanein, S.3
  • 30
    • 0031702438 scopus 로고    scopus 로고
    • A novel locus for Leber congenital amaurosis on chromosome 14q24
    • Stockton DW, Lewis RA, Abboud EB, et al. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 1998;103:328-33.
    • (1998) Hum Genet , vol.103 , pp. 328-333
    • Stockton, D.W.1    Lewis, R.A.2    Abboud, E.B.3
  • 31
    • 0033926132 scopus 로고    scopus 로고
    • A novel locus for Leber congenital amaurosis maps to chromosome 6q
    • Dharmaraj S, Li Y, Robitaille JM, et al. A novel locus for Leber congenital amaurosis maps to chromosome 6q [letter]. Am J Hum Genet 2000;66:319-26.
    • (2000) Am J Hum Genet , vol.66 , pp. 319-326
    • Dharmaraj, S.1    Li, Y.2    Robitaille, J.M.3
  • 32
    • 0035090259 scopus 로고    scopus 로고
    • Mutations in the CRB1 gene cause Leber congenital amaurosis
    • Lotery AJ, Jacobson SG, Fishman GA, et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001;119:415-20.
    • (2001) Arch Ophthalmol , vol.119 , pp. 415-420
    • Lotery, A.J.1    Jacobson, S.G.2    Fishman, G.A.3
  • 33
    • 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
    • published erratum appears in Am J Hum Genet 2001;69:1160
    • den Hollander AI, Heckenlively JR, van den Born LI, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene [published erratum appears in Am J Hum Genet 2001;69:1160]. Am J Hum Genet 2001;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
  • 34
    • 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, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet 2001;28:123-4.
    • (2001) Nat Genet , vol.28 , pp. 123-124
    • Thompson, D.A.1    Li, Y.2    McHenry, C.L.3
  • 35
    • 0014467332 scopus 로고
    • Histopathological study of two cases of Leber's congenital tapeto-retinal degeneration
    • Francois J, Hanssens M. [Histopathological study of two cases of Leber's congenital tapeto-retinal degeneration]. Ann Ocul (Paris) 1969;202:127-55.
    • (1969) Ann Ocul (Paris) , vol.202 , pp. 127-155
    • Francois, J.1    Hanssens, M.2
  • 37
    • 0000255201 scopus 로고
    • Electron microscopy of a retinal abiotrophy
    • Kroll AJ, Kuwabara T. Electron microscopy of a retinal abiotrophy. Arch Ophthalmol 1964;71:683-90.
    • (1964) Arch Ophthalmol , vol.71 , pp. 683-690
    • Kroll, A.J.1    Kuwabara, T.2
  • 38
    • 0017802250 scopus 로고
    • Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case
    • Noble KG, Carr RE. Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case. Arch Ophthalmol 1978;96:818-21.
    • (1978) Arch Ophthalmol , vol.96 , pp. 818-821
    • Noble, K.G.1    Carr, R.E.2
  • 39
    • 0013453630 scopus 로고
    • Congenital amaurosis of Leber
    • Gillespie FD. Congenital amaurosis of Leber. Am J Ophthalmol 1966;61:874-80.
    • (1966) Am J Ophthalmol , vol.61 , pp. 874-880
    • Gillespie, F.D.1
  • 40
    • 0024363398 scopus 로고
    • Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa
    • Jacobson SG, Yagasaki K, Feuer WJ, Roman AJ. Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res 1989;48:679-91.
    • (1989) Exp Eye Res , vol.48 , pp. 679-691
    • Jacobson, S.G.1    Yagasaki, K.2    Feuer, W.J.3    Roman, A.J.4
  • 41
    • 15644362762 scopus 로고    scopus 로고
    • Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene
    • Jacobson SG, Buraczynska M, Milam AH, et al. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 1997;38:1983-97.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 1983-1997
    • Jacobson, S.G.1    Buraczynska, M.2    Milam, A.H.3
  • 42
    • 0034094531 scopus 로고    scopus 로고
    • Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
    • Jacobson SG, Cideciyan AV, Iannaccone A, et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000;41:1898-908.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1898-1908
    • Jacobson, S.G.1    Cideciyan, A.V.2    Iannaccone, A.3
  • 43
    • 0034945522 scopus 로고    scopus 로고
    • Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome
    • Aleman TS, Duncan JL, Bieber ML, et al. Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Invest Ophthalmol Vis Sci 2001;42:1873-81.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1873-1881
    • Aleman, T.S.1    Duncan, J.L.2    Bieber, M.L.3
  • 44
    • 0021980329 scopus 로고
    • Isolation of DNA from biological specimens without extraction with phenol
    • Buffone GJ, Darlington GJ. Isolation of DNA from biological specimens without extraction with phenol [letter]. Clin Chem 1985;31:164-5.
    • (1985) Clin Chem , vol.31 , pp. 164-165
    • Buffone, G.J.1    Darlington, G.J.2
  • 45
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, et al. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993;16:325-32.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3
  • 46
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single- strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as single- strand conformation polymorphisms. Proc Natl Acad Sci U S A 1989;86:2766-70.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3
  • 47
    • 0030669568 scopus 로고    scopus 로고
    • Cone-rod dystrophy due to mutations in a novel photoreceptor- specific homeobox gene (CRX) essential for maintenance of the photoreceptor
    • Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor- specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997;91:543-53.
    • (1997) Cell , vol.91 , pp. 543-553
    • Freund, C.L.1    Gregory-Evans, C.Y.2    Furukawa, T.3
  • 48
    • 0032833350 scopus 로고    scopus 로고
    • Mutation in a human homologue of Drosophila crumbs causes retinitis pigmentosa (RP12)
    • den Hollander AI, ten Brink JB, de Kok YJ, et al. Mutation in a human homologue of Drosophila crumbs causes retinitis pigmentosa (RP12). Nat Genet 1999;23:217-21.
    • (1999) Nat Genet , vol.23 , pp. 217-221
    • Den Hollander, A.I.1    Ten Brink, J.B.2    De Kok, Y.J.3
  • 49
    • 16744367868 scopus 로고    scopus 로고
    • Prevalence of AIPL1 mutations in inherited retinal degenerative disease
    • Sohocki MM, Perrault I, Leroy BP, et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab 2000;70:142-50.
    • (2000) Mol Genet Metab , vol.70 , pp. 142-150
    • Sohocki, M.M.1    Perrault, I.2    Leroy, B.P.3
  • 50
    • 0025835296 scopus 로고
    • Fast and sensitive silverstaining of DNA in polyacrylamide gels
    • published erratum appears in Anal Biochem 1991;198:217
    • Bassam BM, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silverstaining of DNA in polyacrylamide gels [published erratum appears in Anal Biochem 1991;198:217]. Anal Biochem 1991;196:80-3.
    • (1991) Anal Biochem , vol.196 , pp. 80-83
    • Bassam, B.M.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 51
    • 0002172374 scopus 로고    scopus 로고
    • Immunocytochemical studies of the retina
    • Milam AH. Immunocytochemical studies of the retina. Methods Mol Med 2000;47:71-88.
    • (2000) Methods Mol Med , vol.47 , pp. 71-88
    • Milam, A.H.1
  • 52
    • 0027357493 scopus 로고
    • Recoverin immunoreactivity in mammalian cone bipolar cells
    • Milam AH, Dacey DM, Dizhoor AM. Recoverin immunoreactivity in mammalian cone bipolar cells. Vis Neurosci 1993;10:1-12.
    • (1993) Vis Neurosci , vol.10 , pp. 1-12
    • Milam, A.H.1    Dacey, D.M.2    Dizhoor, A.M.3
  • 53
    • 0029257398 scopus 로고
    • Calbindin D-28K immunoreactivity of human cone cells varies with retinal position
    • Haley TL, Pochet R, Baizer L, et al. Calbindin D-28K immunoreactivity of human cone cells varies with retinal position. Vis Neurosci 1995;12:301-7.
    • (1995) Vis Neurosci , vol.12 , pp. 301-307
    • Haley, T.L.1    Pochet, R.2    Baizer, L.3
  • 54
    • 0032231352 scopus 로고    scopus 로고
    • A retGC-1 mutation in autosomal dominant cone-rod dystrophy
    • Perrault I, Rozet JM, Gerber S, et al. A retGC-1 mutation in autosomal dominant cone-rod dystrophy [letter]. Am J Hum Genet 1998;63:651-4.
    • (1998) Am J Hum Genet , vol.63 , pp. 651-654
    • Perrault, I.1    Rozet, J.M.2    Gerber, S.3
  • 55
    • 0033529755 scopus 로고    scopus 로고
    • Biochemical analysis of adimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy
    • Tucker CL, Woodcock SC, Kelsell RE, et al. Biochemical analysis of adimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy. Proc Natl Acad Sci USA 1999;96:9039-44.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 9039-9044
    • Tucker, C.L.1    Woodcock, S.C.2    Kelsell, R.E.3
  • 56
    • 0034765879 scopus 로고    scopus 로고
    • Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1
    • Downes SM, Payne AM, Kelsell RE, et al. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. Arch Ophthalmol 2001;119:1667-73.
    • (2001) Arch Ophthalmol , vol.119 , pp. 1667-1673
    • Downes, S.M.1    Payne, A.M.2    Kelsell, R.E.3
  • 57
    • 0030929080 scopus 로고    scopus 로고
    • Evidence from normal and degenerating photoreceptors that two outer segment integral membrane proteins have separate transport pathways
    • Fariss RN, Molday RS, Fisher SK, Matsumoto B. Evidence from normal and degenerating photoreceptors that two outer segment integral membrane proteins have separate transport pathways. J Comp Neurol 1997;387:148-56.
    • (1997) J Comp Neurol , vol.387 , pp. 148-156
    • Fariss, R.N.1    Molday, R.S.2    Fisher, S.K.3    Matsumoto, B.4
  • 58
    • 0025371311 scopus 로고
    • Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane
    • Connell GJ, Molday RS. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry 1990;29:4691-8.
    • (1990) Biochemistry , vol.29 , pp. 4691-4698
    • Connell, G.J.1    Molday, R.S.2
  • 59
    • 0022480736 scopus 로고
    • A qualitative and quantitative analysis of the human fovea during development
    • Yuodelis C, Hendrickson AE. A qualitative and quantitative analysis of the human fovea during development. Vis Res 1986;26:847-55.
    • (1986) Vis Res , vol.26 , pp. 847-855
    • Yuodelis, C.1    Hendrickson, A.E.2
  • 60
    • 0029935738 scopus 로고    scopus 로고
    • Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa
    • Milam AH, Li ZY, Cideciyan AV, Jacobson SG. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996;37:753-65.
    • (1996) Invest Ophthalmol Vis Sci , vol.37 , pp. 753-765
    • Milam, A.H.1    Li, Z.Y.2    Cideciyan, A.V.3    Jacobson, S.G.4
  • 61
    • 0032052472 scopus 로고    scopus 로고
    • Histopathology of the human retina in retinitis pigmentosa
    • Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 1998;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
  • 62
    • 0034601973 scopus 로고    scopus 로고
    • Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa
    • John SK, Smith JE, Aguirre GD, Milam AH. Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa. Mol Vis 2000;6:204-15.
    • (2000) Mol Vis , vol.6 , pp. 204-215
    • John, S.K.1    Smith, J.E.2    Aguirre, G.D.3    Milam, A.H.4
  • 63
    • 0035847554 scopus 로고    scopus 로고
    • Distribution of S- and M-cones in normal and experimentally detached cat retina
    • Linberg KA, Lewis GP, Shaaw C, et al. Distribution of S- and M-cones in normal and experimentally detached cat retina. J Comp Neurol 2001;430:343-56.
    • (2001) J Comp Neurol , vol.430 , pp. 343-356
    • Linberg, K.A.1    Lewis, G.P.2    Shaaw, C.3
  • 64
    • 0035783513 scopus 로고    scopus 로고
    • Experimental retinal detachment: A paradigm for understanding the effects of induced photoreceptor degeneration
    • Kolb H, Ripps H, Wu S, eds., New York: Elsevier
    • Fisher SK, Stone J, Rex TS, et al. Experimental retinal detachment: a paradigm for understanding the effects of induced photoreceptor degeneration. In: Kolb H, Ripps H, Wu S, eds. Concepts and Challenges in Retinal Biology: A Tribute to John E. Dowling. New York: Elsevier, 2001:679-98.
    • (2001) Concepts and Challenges in Retinal Biology: A Tribute to John E. Dowling , pp. 679-698
    • Fisher, S.K.1    Stone, J.2    Rex, T.S.3
  • 65
    • 0029125152 scopus 로고
    • Rod photoreceptor neurite sprouting in retinitis pigmentosa
    • Li ZY, Kljavin J, Milam AH. Rod photoreceptor neurite sprouting in retinitis pigmentosa. J Neurosci 1995;15:5429-38.
    • (1995) J Neurosci , vol.15 , pp. 5429-5438
    • Li, Z.Y.1    Kljavin, J.2    Milam, A.H.3
  • 66
    • 0034993535 scopus 로고    scopus 로고
    • Rod-cone interactions: Developmental and clinical significance
    • Mohand-Said S, Hicks D, Leveillard T, et al. Rod-cone interactions: developmental and clinical significance. Prog Retin Eye Res 2001;20:451-67.
    • (2001) Prog Retin Eye Res , vol.20 , pp. 451-467
    • Mohand-Said, S.1    Hicks, D.2    Leveillard, T.3
  • 67
    • 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, et al. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci USA 1998;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
  • 68
    • 0032477872 scopus 로고    scopus 로고
    • A null mutation in thephotoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
    • Semple-Rowland SL, Lee NR, Van Hooser JP, et al. A null mutation in thephotoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA 1998;95:1271-6.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1271-1276
    • Semple-Rowland, S.L.1    Lee, N.R.2    Van Hooser, J.P.3
  • 69
    • 0033565767 scopus 로고    scopus 로고
    • Disruption of a retinal guanylylcyclase gene leads to cone-specific dystrophy and paradoxical rod behavior
    • Yang RB, Robinson SW, Xiong WH, et al. Disruption of a retinal guanylylcyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. J Neurosci 1999;19:5889-97.
    • (1999) J Neurosci , vol.19 , pp. 5889-5897
    • Yang, R.B.1    Robinson, S.W.2    Xiong, W.H.3
  • 70
    • 0025330006 scopus 로고
    • Receptor potentials in the normal and retinal degenerate (rd) chick
    • Dawson WW, Ulshafer RJ, Parmer R, Lee NR. Receptor potentials in the normal and retinal degenerate (rd) chick. Clin Vis Sci 1990;5:285-92.
    • (1990) Clin Vis Sci , vol.5 , pp. 285-292
    • Dawson, W.W.1    Ulshafer, R.J.2    Parmer, R.3    Lee, N.R.4
  • 71
    • 0029884378 scopus 로고    scopus 로고
    • Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina
    • Semple-Rowland SL, Gorczyca WA, Buczylko J, et al. Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina. FEBS Lett 1996;385:47-52.
    • (1996) FEBS Lett , vol.385 , pp. 47-52
    • Semple-Rowland, S.L.1    Gorczyca, W.A.2    Buczylko, J.3
  • 72
    • 0031732523 scopus 로고    scopus 로고
    • Relation of optical coherence tomography to microanatomy in normal and rd chickens
    • Huang Y, Cideciyan AV, Papastergiou GI, et al. Relation of optical coherence tomography to microanatomy in normal and rd chickens. Invest Ophthalmol Vis Sci 1998;39:2405-16.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2405-2416
    • Huang, Y.1    Cideciyan, A.V.2    Papastergiou, G.I.3
  • 73
    • 0022313270 scopus 로고
    • Hereditary retinal degeneration in the Rhode Island Red chicken: Ultrastructural analysis
    • Ulshafer RJ, Allen CB. Hereditary retinal degeneration in the Rhode Island Red chicken: ultrastructural analysis. Exp Eye Res 1985;40:865-77.
    • (1985) Exp Eye Res , vol.40 , pp. 865-877
    • Ulshafer, R.J.1    Allen, C.B.2
  • 74
    • 0035032662 scopus 로고    scopus 로고
    • Gene therapy restores vision in a canine model of childhood blindness
    • Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001;28:92-5.
    • (2001) Nat Genet , vol.28 , pp. 92-95
    • Acland, G.M.1    Aguirre, G.D.2    Ray, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.