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Volumn 63, Issue 5, 1998, Pages 1307-1315

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

EID: 0032231603     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302101     Document Type: Article
Times cited : (242)

References (16)
  • 1
    • 0030781996 scopus 로고    scopus 로고
    • Crx, a novel otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes
    • Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, et al (1997) Crx, a novel otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 19:1017-1030
    • (1997) Neuron , vol.19 , pp. 1017-1030
    • Chen, S.1    Wang, Q.L.2    Nie, Z.3    Sun, H.4    Lennon, G.5    Copeland, N.G.6    Gilbert, D.J.7
  • 3
    • 0027982374 scopus 로고
    • From fly head to mammalian forebrain: The story of otd and OTX
    • Finkelstein R, Boncinelli E (1994) From fly head to mammalian forebrain: the story of otd and OTX. Trends Genet 10:310-315
    • (1994) Trends Genet , vol.10 , pp. 310-315
    • Finkelstein, R.1    Boncinelli, E.2
  • 4
    • 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, Papaioannou M, Looser J, Ploder L, Bellingham J, et al (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543-553
    • (1997) Cell , vol.91 , pp. 543-553
    • Freund, C.L.1    Gregory-Evans, C.Y.2    Furukawa, T.3    Papaioannou, M.4    Looser, J.5    Ploder, L.6    Bellingham, J.7
  • 6
    • 0030725687 scopus 로고    scopus 로고
    • Crx, a novel otxlike homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
    • Furukawa T, Morrow EM, Cepko CL (1997) Crx, a novel otxlike homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91:531-541
    • (1997) Cell , vol.91 , pp. 531-541
    • Furukawa, T.1    Morrow, E.M.2    Cepko, C.L.3
  • 7
    • 0005063270 scopus 로고
    • Autosomal dominant Leber's amaurosis congenita
    • Heckenlively JR (ed). Lippincott, Philadelphia
    • Heckenlively JR (1988) Autosomal dominant Leber's amaurosis congenita. In: Heckenlively JR (ed) Retinitis pigmentosa. Lippincott, Philadelphia, pp 146-149
    • (1988) Retinitis Pigmentosa , pp. 146-149
    • Heckenlively, J.R.1
  • 8
    • 0028096060 scopus 로고
    • Retinal pattern dystrophy associated with 4 bp insertion at codon 140 in the RDS-peripherin gene
    • Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S (1994) Retinal pattern dystrophy associated with 4 bp insertion at codon 140 in the RDS-peripherin gene. Hum Mol Genet 3:367-368
    • (1994) Hum Mol Genet , vol.3 , pp. 367-368
    • Keen, T.J.1    Inglehearn, C.F.2    Kim, R.3    Bird, A.C.4    Bhattacharya, S.5
  • 9
    • 0032539699 scopus 로고    scopus 로고
    • A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX
    • Li X, Chen S, Wang Q, Zack DJ, Snyder SH (1998) A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX. Proc Natl Acad Sci USA 95:1876-1881
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1876-1881
    • Li, X.1    Chen, S.2    Wang, Q.3    Zack, D.J.4    Snyder, S.H.5
  • 11
    • 0028279531 scopus 로고
    • Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration
    • Nakazawa M, Kikawa E, Chida Y, Tamai M (1994) Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration. Hum Mol Genet 3:1195-1196
    • (1994) Hum Mol Genet , vol.3 , pp. 1195-1196
    • Nakazawa, M.1    Kikawa, E.2    Chida, Y.3    Tamai, M.4
  • 12
    • 0030045140 scopus 로고    scopus 로고
    • Autosomal cone-rod retinal dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene
    • Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M (1996) Autosomal cone-rod retinal dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. Arch Ophthalmol 114:72-78
    • (1996) Arch Ophthalmol , vol.114 , pp. 72-78
    • Nakazawa, M.1    Kikawa, E.2    Chida, Y.3    Wada, Y.4    Shiono, T.5    Tamai, M.6
  • 13
    • 0008506212 scopus 로고    scopus 로고
    • Identification of candidate genes involved in the autosomal dominant cone rod dystrophy locus (CORD2) which maps to 19q13.1
    • Sohocki MM, Sullivan LS, Mintz-Hittner HA, Daiger SP (1997) Identification of candidate genes involved in the autosomal dominant cone rod dystrophy locus (CORD2) which maps to 19q13.1. Am J Hum Genet 61:A295
    • (1997) Am J Hum Genet , vol.61
    • Sohocki, M.M.1    Sullivan, L.S.2    Mintz-Hittner, H.A.3    Daiger, S.P.4
  • 14
    • 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, Affigato LM, Coats CL, Brady KD, Fishman GA, et al (1997) Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:1329-1336
    • (1997) Neuron , vol.19 , pp. 1329-1336
    • Swain, P.K.1    Chen, S.2    Wang, Q.3    Affigato, L.M.4    Coats, C.L.5    Brady, K.D.6    Fishman, G.A.7
  • 15
    • 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 peripheral/ RDS gene
    • Weleber RG, Carr RE, Murphet 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 peripheral/ RDS gene. Arch Ophthalmol 111:1531-1542
    • (1993) Arch Ophthalmol , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphet, W.H.3    Sheffield, V.C.4    Stone, E.M.5
  • 16
    • 0027447531 scopus 로고
    • Mutations in the human retinal degeneration slow (rds) gene can cause either retinitis pigmentosa or macular dystrophy
    • Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, et al (1993) Mutations in the human retinal degeneration slow (rds) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3:213-218
    • (1993) Nat Genet , vol.3 , pp. 213-218
    • Wells, J.1    Wroblewski, J.2    Keen, J.3    Inglehearn, C.4    Jubb, C.5    Eckstein, A.6    Jay, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.