메뉴 건너뛰기




Volumn 39, Issue 12, 1998, Pages 2417-2426

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

EID: 0031790083     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (111)

References (51)
  • 1
    • 0029790558 scopus 로고    scopus 로고
    • Transcription factor genes and the developing eye: A genetic perspective
    • Freund C, Horsford DJ, McInnes RR. Transcription factor genes and the developing eye: a genetic perspective. Hum Mol Genet. 1996;5:1471-1488.
    • (1996) Hum Mol Genet , vol.5 , pp. 1471-1488
    • Freund, C.1    Horsford, D.J.2    McInnes, R.R.3
  • 2
    • 0030568155 scopus 로고    scopus 로고
    • Mechanisms of disease: Transcription factor mutations and disease
    • Latchman DS. Mechanisms of disease: transcription factor mutations and disease. N Engl J Med. 1996;334:28-33.
    • (1996) N Engl J Med , vol.334 , pp. 28-33
    • Latchman, D.S.1
  • 4
    • 0030725687 scopus 로고    scopus 로고
    • Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
    • Furukawa T, Morrow EM, Cepko CL. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell. 1997;91: 531-541.
    • (1997) Cell , vol.91 , pp. 531-541
    • Furukawa, T.1    Morrow, E.M.2    Cepko, C.L.3
  • 5
    • 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;91:543-553.
    • (1997) Cell , vol.91 , pp. 543-553
    • Freund, C.L.1    Gregory-Evans, C.Y.2    Furukawa, T.3
  • 6
    • 0030781996 scopus 로고    scopus 로고
    • Crx, an novel otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes
    • Chen S, Wang Q-L, Nie Z, et al. Crx, an novel otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron. 1997;19:1017-1030.
    • (1997) Neuron , vol.19 , pp. 1017-1030
    • Chen, S.1    Wang, Q.-L.2    Nie, Z.3
  • 7
    • 0031447030 scopus 로고    scopus 로고
    • Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
    • Swain PK, Chen S, Wang Q-L, et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 1997;19:1329-1336.
    • (1997) Neuron , vol.19 , pp. 1329-1336
    • Swain, P.K.1    Chen, S.2    Wang, Q.-L.3
  • 8
    • 0032037626 scopus 로고    scopus 로고
    • De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
    • Freund CL, Wang Q-L, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet. 1998;18:311-312.
    • (1998) Nat Genet , vol.18 , pp. 311-312
    • Freund, C.L.1    Wang, Q.-L.2    Chen, S.3
  • 9
    • 0023002215 scopus 로고
    • Automated light- And dark-adapted perimetry for evaluating retinitis pigmentosa
    • Jacobson SG, Voigt WJ, Parel J-M, et al. Automated light-and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology. 1986;93:1604-1611.
    • (1986) Ophthalmology , vol.93 , pp. 1604-1611
    • Jacobson, S.G.1    Voigt, W.J.2    Parel, J.-M.3
  • 10
    • 0001799074 scopus 로고
    • Rod and cone perimetry: Computerized testing and analysis
    • Heckenlively J, Arden GB, eds. St. Louis, Mo: Mosby-Year Book
    • Jacobson SG, Apathy PP, Parel J-M. Rod and cone perimetry: computerized testing and analysis. In: Heckenlively J, Arden GB, eds. Principles and Practice of Clinical Vision Testing. St. Louis, Mo: Mosby-Year Book; 1991:475-482.
    • (1991) Principles and Practice of Clinical Vision Testing , pp. 475-482
    • Jacobson, S.G.1    Apathy, P.P.2    Parel, J.-M.3
  • 12
    • 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; 38:1983-1997.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 1983-1997
    • Jacobson, S.G.1    Buraczynska, M.2    Milam, A.H.3
  • 15
    • 0019413494 scopus 로고
    • The involvement of rod photoreceptors in dark adaptation
    • Lamb TD. The involvement of rod photoreceptors in dark adaptation. Vision Res. 1981;21:1773-1782.
    • (1981) Vision Res , vol.21 , pp. 1773-1782
    • Lamb, T.D.1
  • 16
    • 0024807784 scopus 로고
    • Advanced retinitis pigmentosa: Quantifying visual function
    • Hollyfield JG, Anderson RE. LaVail MM, eds. New York: Alan R. Liss
    • Borruat F-X, Jacobson SG. Advanced retinitis pigmentosa: quantifying visual function. In: Hollyfield JG, Anderson RE. LaVail MM, eds. Progress in Clinical and Biological Research. New York: Alan R. Liss; 1989:3-17.
    • (1989) Progress in Clinical and Biological Research , pp. 3-17
    • Borruat, F.-X.1    Jacobson, S.G.2
  • 17
    • 0025367613 scopus 로고
    • Patterns of rod and cone dysfunction in Bardet-Biedl syndrome
    • Jacobson SG, Borruat F-X, Apathy PP. Patterns of rod and cone dysfunction in Bardet-Biedl syndrome. Am J Ophthalmol. 1990; 109:676-688.
    • (1990) Am J Ophthalmol , vol.109 , pp. 676-688
    • Jacobson, S.G.1    Borruat, F.-X.2    Apathy, P.P.3
  • 18
    • 0030220591 scopus 로고    scopus 로고
    • An alternative phototransduction model for human rod and cone ERG a-waves: Normal parameters and variation with age
    • Cideciyan AV, Jacobson SG. An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age. Vision Res. 1996;36:2609-2621.
    • (1996) Vision Res , vol.36 , pp. 2609-2621
    • Cideciyan, A.V.1    Jacobson, S.G.2
  • 19
    • 0026254046 scopus 로고
    • Optical coherence tomography
    • Huang D, Swanson EA, Lin CP, et al. Optical coherence tomography. Science. 1991;254:1178-1181.
    • (1991) Science , vol.254 , pp. 1178-1181
    • Huang, D.1    Swanson, E.A.2    Lin, C.P.3
  • 20
    • 0028948087 scopus 로고
    • Optical coherence tomography of the human retina
    • Hee MR, Izatt JA, Swanson EA, et al. Optical coherence tomography of the human retina. Arch Ophthalmol. 1995;113:325-332.
    • (1995) Arch Ophthalmol , vol.113 , pp. 325-332
    • Hee, M.R.1    Izatt, J.A.2    Swanson, E.A.3
  • 23
    • 0028021299 scopus 로고
    • Primate foveal development: A microcosm of current questions in neurobiology
    • Hendrickson AE. Primate foveal development: a microcosm of current questions in neurobiology. Invest Ophthalmol Vis Sci. 1994;35:3129-3133.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 3129-3133
    • Hendrickson, A.E.1
  • 24
    • 0031915828 scopus 로고    scopus 로고
    • Ontogeny of the primate fovea: A central issue in retinal development
    • Provis JM, Diaz CM, Dreher B. Ontogeny of the primate fovea: a central issue in retinal development. Prog Neurobiol. 1998;54: 549-581.
    • (1998) Prog Neurobiol , vol.54 , pp. 549-581
    • Provis, J.M.1    Diaz, C.M.2    Dreher, B.3
  • 25
    • 0024449541 scopus 로고
    • Molecular genetics of human blue cone monochromacy
    • Nathans J, Davenport CM, Maumenee IH, et al. Molecular genetics of human blue cone monochromacy. Science. 1989;245: 831-838.
    • (1989) Science , vol.245 , pp. 831-838
    • Nathans, J.1    Davenport, C.M.2    Maumenee, I.H.3
  • 27
    • 0028927183 scopus 로고
    • Enhanced S cone syndrome: Evidence for an abnormally large number of S cones
    • Hood DC, Cideciyan AV, Roman AJ, Jacobson SG. Enhanced S cone syndrome: evidence for an abnormally large number of S cones. Vision Res. 1995;35:1473-1481.
    • (1995) Vision Res , vol.35 , pp. 1473-1481
    • Hood, D.C.1    Cideciyan, A.V.2    Roman, A.J.3    Jacobson, S.G.4
  • 28
    • 0032477872 scopus 로고    scopus 로고
    • A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
    • Semple-Rowland SL, Lee NR, van Hooser JP, Palczewski K, Baehr W. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA. 1998;95:1271-1276.
    • (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    Palczewski, K.4    Baehr, W.5
  • 29
    • 10544245684 scopus 로고    scopus 로고
    • The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures
    • Kumar R, Chen S, Scheurer D, et al. The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures. J Biol Chem. 1996;271:29612-29618.
    • (1996) J Biol Chem , vol.271 , pp. 29612-29618
    • Kumar, R.1    Chen, S.2    Scheurer, D.3
  • 30
    • 0030665053 scopus 로고    scopus 로고
    • Human bZIP transcription factor gene NRL: Structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration
    • Farjo Q, Jackson A, Pieke-Dahl S, et al. Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. Genomics. 1997;45:395-401.
    • (1997) Genomics , vol.45 , pp. 395-401
    • Farjo, Q.1    Jackson, A.2    Pieke-Dahl, S.3
  • 31
    • 0031932725 scopus 로고    scopus 로고
    • Naturally occurring genetic variation affect Drosophila photoreceptor determination
    • Polaczyk PJ, Gasperini R, Gibson G. Naturally occurring genetic variation affect Drosophila photoreceptor determination. Dev Genes Evol. 1998;207:462-470.
    • (1998) Dev Genes Evol , vol.207 , pp. 462-470
    • Polaczyk, P.J.1    Gasperini, R.2    Gibson, G.3
  • 33
    • 0027371915 scopus 로고
    • Taurine promotes the differentiation of a vertebrate retinal cell type in vitro
    • Altshuler D, LoTurco JJ, Rush J, Cepko C. Taurine promotes the differentiation of a vertebrate retinal cell type in vitro. Development. 1993;119:1317-1328.
    • (1993) Development , vol.119 , pp. 1317-1328
    • Altshuler, D.1    LoTurco, J.J.2    Rush, J.3    Cepko, C.4
  • 35
    • 0029031159 scopus 로고
    • Photoaversion in Leber's congenital amaurosis
    • Traboulsi EI, Maumenee IH. Photoaversion in Leber's congenital amaurosis. Ophthalmol Genet. 1995;16:27-30.
    • (1995) Ophthalmol Genet , vol.16 , pp. 27-30
    • Traboulsi, E.I.1    Maumenee, I.H.2
  • 37
    • 3543119648 scopus 로고
    • On various recessive biotypes of Leber's congenital amaurosis
    • Waardenburg PJ, Schappert-Kimmijser J. On various recessive biotypes of Leber's congenital amaurosis. Acta Ophthalmol. 1963; 103:1507-1508.
    • (1963) Acta Ophthalmol , vol.103 , pp. 1507-1508
    • Waardenburg, P.J.1    Schappert-Kimmijser, J.2
  • 38
    • 16144363583 scopus 로고    scopus 로고
    • Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
    • Perrault I, Rozet JM, Calvas P, et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet. 1996;14:461-464.
    • (1996) Nat Genet , vol.14 , pp. 461-464
    • Perrault, I.1    Rozet, J.M.2    Calvas, P.3
  • 39
    • 0031252434 scopus 로고    scopus 로고
    • Mutations in RPE65 cause Leber's congenital amaurosis
    • Marlhens F, Bareil C, Griffoin J-M, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-141.
    • (1997) Nat Genet , vol.17 , pp. 139-141
    • Marlhens, F.1    Bareil, C.2    Griffoin, J.-M.3
  • 40
    • 0031255068 scopus 로고    scopus 로고
    • Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    • Gu S-M, Thompson DA, Srikumari CRS, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-197.
    • (1997) Nat Genet , vol.17 , pp. 194-197
    • Gu, S.-M.1    Thompson, D.A.2    Srikumari, C.R.S.3
  • 41
    • 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. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA. 1998;95:3088-3093.
    • (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
  • 42
    • 84965270174 scopus 로고
    • Retinal aplasia as a clinical entity
    • Sorsby A, Williams CE. Retinal aplasia as a clinical entity. Brit Med J. 1960;1:293-297.
    • (1960) Brit Med J , vol.1 , pp. 293-297
    • Sorsby, A.1    Williams, C.E.2
  • 43
    • 0014373715 scopus 로고
    • Leber's tapetoretinal reflex
    • François J. Leber's tapetoretinal reflex. Int Ophthalmol Clin. 1968; 8:929-947.
    • (1968) Int Ophthalmol Clin , vol.8 , pp. 929-947
    • François, J.1
  • 45
    • 0028331862 scopus 로고
    • Leber congenital amaurosis and its association with keratoconus and keratoglobus
    • Elder MJ. Leber congenital amaurosis and its association with keratoconus and keratoglobus. J Pediatr Ophthalmol Strabismus. 1994;31:38-40.
    • (1994) J Pediatr Ophthalmol Strabismus , vol.31 , pp. 38-40
    • Elder, M.J.1
  • 46
    • 0028244138 scopus 로고
    • Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
    • Evans K, Fryer A, Inglehearn C, et al. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet. 1994;6:210-213.
    • (1994) Nat Genet , vol.6 , pp. 210-213
    • Evans, K.1    Fryer, A.2    Inglehearn, C.3
  • 48
    • 0023064352 scopus 로고
    • Rod ERGs in retinitis pigmentosa and cone-rod degeneration
    • Birch DG, Fish GE. Rod ERGs in retinitis pigmentosa and cone-rod degeneration. Invest Ophthalmol Vis Sci. 1987;28: 140-150.
    • (1987) Invest Ophthalmol Vis Sci , vol.28 , pp. 140-150
    • Birch, D.G.1    Fish, G.E.2
  • 49
    • 0024384275 scopus 로고
    • Cone-rod dystrophy: Phenotypic diversity by retinal function testing
    • Yagasaki K, Jacobson SG. Cone-rod dystrophy: phenotypic diversity by retinal function testing. Arch Ophthalmol. 1989;107:701-708.
    • (1989) Arch Ophthalmol , vol.107 , pp. 701-708
    • Yagasaki, K.1    Jacobson, S.G.2
  • 50
    • 0025202679 scopus 로고
    • Rod visual fields in cone-rod degeneration: Comparisons to retinitis pigmentosa
    • Birch DG, Anderson JL. Rod visual fields in cone-rod degeneration: comparisons to retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1990;31:2288-2299.
    • (1990) Invest Ophthalmol Vis Sci , vol.31 , pp. 2288-2299
    • Birch, D.G.1    Anderson, J.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.