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Volumn 2, Issue 9, 1996, Pages 380-386

Inherited retinal degeneration: Exceptional genetic and clinical heterogeneity

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

EID: 0030227604     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(96)10037-X     Document Type: Review
Times cited : (65)

References (35)
  • 1
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmentosa
    • Dryja, T.P. and Li, T. (1995) Molecular genetics of retinitis pigmentosa, Hum. Mol. Genet. 4, 1739-1743
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 2
    • 0028017387 scopus 로고
    • Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
    • Knowles, J.A. et al. (1994) Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p, Hum. Mol. Genet. 3, 1401-1403
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1401-1403
    • Knowles, J.A.1
  • 3
    • 0000442299 scopus 로고
    • Genetic linkage in autosomal recessive retinitis pigmentosa
    • Bruford, E.A. et al. (1994) Genetic linkage in autosomal recessive retinitis pigmentosa, Am. J. Hum. Genet. 55, A181
    • (1994) Am. J. Hum. Genet. , vol.55
    • Bruford, E.A.1
  • 4
    • 0029143376 scopus 로고
    • An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
    • Bardien, S. et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q, Hum. Mol. Genet. 4, 1459-1462
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1459-1462
    • Bardien, S.1
  • 5
    • 0029020995 scopus 로고
    • X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
    • McGuire, R.E. et al. (1995) X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11, Am. J. Hum. Genet. 57, 87-94
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 87-94
    • McGuire, R.E.1
  • 6
    • 0027000604 scopus 로고
    • Rhodopsin and phototransduction
    • Hargrave, P. and McDowell, J.H. (1992) Rhodopsin and phototransduction, Int. Rev. Cytol. 137B, 49-97
    • (1992) Int. Rev. Cytol. , vol.137 B , pp. 49-97
    • Hargrave, P.1    McDowell, J.H.2
  • 7
    • 0028223006 scopus 로고
    • Linkage of photoreceptor degeneration by apoptosis with inherited defect in phototransduction
    • Lolley, R.N., Rong, H. and Craft, C.M. (1994) Linkage of photoreceptor degeneration by apoptosis with inherited defect in phototransduction, Invest. Ophthalmol. Vis. Sci. 35, 358-362
    • (1994) Invest. Ophthalmol. Vis. Sci. , vol.35 , pp. 358-362
    • Lolley, R.N.1    Rong, H.2    Craft, C.M.3
  • 9
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja, T.P. et al. (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa, Nature 343, 364-366
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1
  • 10
    • 0025721075 scopus 로고
    • A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
    • Farrar, G.J. et al. (1991) A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa, Nature 354, 478-480
    • (1991) Nature , vol.354 , pp. 478-480
    • Farrar, G.J.1
  • 11
    • 0025720710 scopus 로고
    • Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara, K. et al. (1991) Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa, Nature 354, 480-483
    • (1991) Nature , vol.354 , pp. 480-483
    • Kajiwara, K.1
  • 12
    • 0028789921 scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase
    • Huang, S.H. et al. (1995) Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase, Nat. Genet. 11, 4688-4712
    • (1995) Nat. Genet. , vol.11 , pp. 4688-4712
    • Huang, S.H.1
  • 13
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin, M.E. et al. (1993) Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa, Nat. Genet. 4, 130-134
    • (1993) Nat. Genet. , vol.4 , pp. 130-134
    • McLaughlin, M.E.1
  • 14
    • 0028820045 scopus 로고
    • Mutations in the gene encoding the α subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • Dryja, T.P. et al. (1995) Mutations in the gene encoding the α subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa, Proc. Natl. Acad. Sci. U. S. A. 92, 10177-10181
    • (1995) Proc. Natl. Acad. Sci. U. S. A. , vol.92 , pp. 10177-10181
    • Dryja, T.P.1
  • 15
    • 0028841693 scopus 로고
    • Correlation of phenotype with genotype in inherited retinal degeneration
    • Daiger, S.P., Sullivan, L.S. and Rodriguez, J.A. (1995) Correlation of phenotype with genotype in inherited retinal degeneration, Behav. Brain Sci. 18, 452-467
    • (1995) Behav. Brain Sci. , vol.18 , pp. 452-467
    • Daiger, S.P.1    Sullivan, L.S.2    Rodriguez, J.A.3
  • 16
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil, D. et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B, Nature 374, 60-61
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1
  • 17
    • 0014528795 scopus 로고
    • Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease
    • Mize, C.E. et al. (1969) Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease, J. Clin. Invest. 48, 1033-1040
    • (1969) J. Clin. Invest. , vol.48 , pp. 1033-1040
    • Mize, C.E.1
  • 18
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara, K., Berson, E.L. and Dryja, T.P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci, Science 264, 1604-1608
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 19
    • 0027201976 scopus 로고
    • Age-related Bruch's membrane change: A clinical study of the relative role of heredity and environment
    • Piguet, B. et al. (1993) Age-related Bruch's membrane change: a clinical study of the relative role of heredity and environment, Br. J. Ophthalmol. 77, 400-403
    • (1993) Br. J. Ophthalmol. , vol.77 , pp. 400-403
    • Piguet, B.1
  • 20
    • 38749142821 scopus 로고
    • Heredity and age-related macular degeneration. Prognosis and risk factors
    • Klein, M.L., Mauldin, W.M. and Stoumbos, V.D. (1994) Heredity and age-related macular degeneration. Prognosis and risk factors, Ophthalmol. 101, 1522-1528
    • (1994) Ophthalmol. , vol.101 , pp. 1522-1528
    • Klein, M.L.1    Mauldin, W.M.2    Stoumbos, V.D.3
  • 21
    • 0025967305 scopus 로고
    • Autosomal dominant retinitis pigmentosa: Two families with transversion mutation in codon 23 of rhodopsin
    • Heckenlively, J., Rodriguez, J.A. and Daiger, S.P. (1991) Autosomal dominant retinitis pigmentosa: two families with transversion mutation in codon 23 of rhodopsin, Arch. Ophthalmol. 109, 84-91
    • (1991) Arch. Ophthalmol. , vol.109 , pp. 84-91
    • Heckenlively, J.1    Rodriguez, J.A.2    Daiger, S.P.3
  • 22
    • 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 peripherin/RDS gene
    • Weleber, R.G. et al. (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 peripherin/RDS gene, Arch. Ophthalmol. 111, 1531-1542
    • (1993) Arch. Ophthalmol. , vol.111 , pp. 1531-1542
    • Weleber, R.G.1
  • 23
    • 0026643593 scopus 로고
    • Rhodopsin: Structure, function, and genetics
    • Nathans, J. (1992) Rhodopsin: structure, function, and genetics, Biochemistry 31, 4923-4931
    • (1992) Biochemistry , vol.31 , pp. 4923-4931
    • Nathans, J.1
  • 24
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja, T.P. et al. (1993) Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness, Nat. Genet. 4, 280-283
    • (1993) Nat. Genet. , vol.4 , pp. 280-283
    • Dryja, T.P.1
  • 25
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
    • Sung, C-H., Davenport, C.M. and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain, J. Biol. Chem. 268, 26645-26649
    • (1993) J. Biol. Chem. , vol.268 , pp. 26645-26649
    • Sung, C.-H.1    Davenport, C.M.2    Nathans, J.3
  • 26
    • 0027935666 scopus 로고
    • A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment
    • Sung, C-H. et al. (1994) A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment, J. Neurosci. 14, 5818-5833
    • (1994) J. Neurosci. , vol.14 , pp. 5818-5833
    • Sung, C.-H.1
  • 27
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
    • Meindl, A. et al. (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3), Nat. Genet. 13, 35-42
    • (1996) Nat. Genet. , vol.13 , pp. 35-42
    • Meindl, A.1
  • 28
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber, B.H.F. et al. (1994) Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy, Nat. Genet. 8, 352-356
    • (1994) Nat. Genet. , vol.8 , pp. 352-356
    • Weber, B.H.F.1
  • 29
    • 0026935145 scopus 로고
    • Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
    • Meindl, A. et al. (1992) Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins, Nat. Genet. 2, 139-143
    • (1992) Nat. Genet. , vol.2 , pp. 139-143
    • Meindl, A.1
  • 30
    • 0028939390 scopus 로고
    • Mutation spectrum of the gene encoding the β subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
    • McLaughlin, M.E., Sandberg, M.A., Berson, E.L. and Dryja, T.P. (1995) Mutation spectrum of the gene encoding the β subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa, Proc. Natl. Acad. Sci. U. S. A. 92, 3249-3253
    • (1995) Proc. Natl. Acad. Sci. U. S. A. , vol.92 , pp. 3249-3253
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 31
    • 0029114249 scopus 로고
    • Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
    • Jacobsen, S.G. et al. (1995) Night blindness in Sorsby's fundus dystrophy reversed by vitamin A, Nat. Genet. 11, 27-32
    • (1995) Nat. Genet. , vol.11 , pp. 27-32
    • Jacobsen, S.G.1
  • 32
    • 0026591170 scopus 로고
    • Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase β subunit
    • Lem, J. et al. (1992) Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase β subunit, Proc. Natl. Acad. Sci. U. S. A. 89, 4422-4426
    • (1992) Proc. Natl. Acad. Sci. U. S. A. , vol.89 , pp. 4422-4426
    • Lem, J.1
  • 33
    • 0028280660 scopus 로고
    • Adenovirus vector-mediated in vivo gene transfer into adult murine retina
    • Bennett, J. et al. (1994) Adenovirus vector-mediated in vivo gene transfer into adult murine retina, Invest. Ophthalmol. Vis. Sci. 35, 2535-2542
    • (1994) Invest. Ophthalmol. Vis. Sci. , vol.35 , pp. 2535-2542
    • Bennett, J.1
  • 34
    • 0347107628 scopus 로고
    • Delayed retinal degeneration after adenovirus-mediated gene therapy in rd/rd mice
    • Bennett, J. and Maguire, A.M. (1995) Delayed retinal degeneration after adenovirus-mediated gene therapy in rd/rd mice, Invest. Ophthalmol. Vis. Sci. 36, S855
    • (1995) Invest. Ophthalmol. Vis. Sci. , vol.36
    • Bennett, J.1    Maguire, A.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.