메뉴 건너뛰기




Volumn 1-3, Issue , 2005, Pages 373-394

Molecular Genetics of Retinal Disease

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84917066340     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-323-02598-0.50022-7     Document Type: Chapter
Times cited : (4)

References (86)
  • 2
    • 17344363489 scopus 로고    scopus 로고
    • Positional cloning of the gene for X-linked retinitis pigmentosa 2
    • Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 1998, 19:327-332.
    • (1998) Nat Genet , vol.19 , pp. 327-332
    • Schwahn, U.1    Lenzner, S.2    Dong, J.3
  • 3
    • 0028815440 scopus 로고
    • Defective myosin VIIA gene responsible for Usher syndrome type 1B
    • Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995, 374:60-61.
    • (1995) Nature , vol.374 , pp. 60-61
    • Weil, D.1    Blanchard, S.2    Kaplan, J.3
  • 4
    • 0032881729 scopus 로고    scopus 로고
    • Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
    • Bowne SJ, Daiger SP, Hims MM, et al. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet 1999, 11:2121-2128.
    • (1999) Hum Mol Genet , vol.11 , pp. 2121-2128
    • Bowne, S.J.1    Daiger, S.P.2    Hims, M.M.3
  • 5
    • 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, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996, 13:35-42.
    • (1996) Nat Genet , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3
  • 6
    • 0032511101 scopus 로고    scopus 로고
    • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    • Eudy JD, Weston MD, Yao S, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998, 280:1753-1757.
    • (1998) Science , vol.280 , pp. 1753-1757
    • Eudy, J.D.1    Weston, M.D.2    Yao, S.3
  • 7
    • 0030771360 scopus 로고    scopus 로고
    • Positional cloning of the gene associated with X-linked juvenile retinoschisis
    • Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997, 17:164-170.
    • (1997) Nat Genet , vol.17 , pp. 164-170
    • Sauer, C.G.1    Gehrig, A.2    Warneke-Wittstock, R.3
  • 8
    • 0031252434 scopus 로고    scopus 로고
    • Mutations in RPE65 cause Leber's congenital amaurosis
    • Marlhens F, Bareil C, Griffoin JM, 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
  • 9
    • 84984763750 scopus 로고    scopus 로고
    • Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
    • Maw MA, Kennedy B, Knight A, et al. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet 1997, 17:198-200.
    • (1997) Nat Genet , vol.17 , pp. 198-200
    • Maw, M.A.1    Kennedy, B.2    Knight, A.3
  • 10
    • 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 RG, Carr RE, Murphey WH, et al. 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 1993, 111:1531-1542.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphey, W.H.3
  • 11
    • 0027240519 scopus 로고
    • Identification of the von Hippel-Lindau disease tumor suppressor gene
    • Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993, 260:1317-1320.
    • (1993) Science , vol.260 , pp. 1317-1320
    • Latif, F.1    Tory, K.2    Gnarra, J.3
  • 12
    • 0024990758 scopus 로고
    • Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase
    • Bowes C, Li T, Danciger M, et al. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature 1990, 347:677-680.
    • (1990) Nature , vol.347 , pp. 677-680
    • Bowes, C.1    Li, T.2    Danciger, M.3
  • 13
    • 84917250023 scopus 로고    scopus 로고
    • Rescue of photoreceptor degeneration in the rd mouse by HIV vector-mediated gene transfer
    • Takahashi M, Miyoshi H, Verma IM et al. Rescue of photoreceptor degeneration in the rd mouse by HIV vector-mediated gene transfer. ARVO abstract 1998; 5151.
    • (1998) ARVO abstract , pp. 5151
    • Takahashi, M.1    Miyoshi, H.2    Verma, I.M.3
  • 14
    • 84917250022 scopus 로고    scopus 로고
    • Encapsulated adenovirus minichromosome (EAM)-mediated rescue of retinal degeneration in the rd mouse and construction of second generation EAMs and helper virions
    • Kumar-Singh R, Farber DB. Encapsulated adenovirus minichromosome (EAM)-mediated rescue of retinal degeneration in the rd mouse and construction of second generation EAMs and helper virions. ARVO abstract 1998; 5152.
    • (1998) ARVO abstract , pp. 5152
    • Kumar-Singh, R.1    Farber, D.B.2
  • 15
    • 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, 28:92-95.
    • (2001) Nat Genet , vol.28 , pp. 92-95
    • Acland, G.M.1    Aguirre, G.D.2    Ray, J.3
  • 16
    • 10744230959 scopus 로고    scopus 로고
    • In utero gene therapy rescues vision in a murine model of congenital blindness
    • Dejneka NS, Surace EM, Aleman TS, et al. In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther 2004, 9:182-188.
    • (2004) Mol Ther , vol.9 , pp. 182-188
    • Dejneka, N.S.1    Surace, E.M.2    Aleman, T.S.3
  • 17
    • 0030997980 scopus 로고    scopus 로고
    • Adenovirus-mediated gene transfer of ciliary neurotrophic factor can prevent photoreceptor degeneration in the retinal degeneration (rd) mouse
    • Cayouette M, Gravel C Adenovirus-mediated gene transfer of ciliary neurotrophic factor can prevent photoreceptor degeneration in the retinal degeneration (rd) mouse. Hum Gene Ther 1997, 8:423-430.
    • (1997) Hum Gene Ther , vol.8 , pp. 423-430
    • Cayouette, M.1    Gravel, C.2
  • 18
    • 84917250021 scopus 로고    scopus 로고
    • Enhanced survival of photoreceptors in P23H mutant rhodopsin transgenic rats by adeno-associated virus (AAV)-mediated delivery of neurotrophic genes
    • Peterson WM, Flannery JG, Hauswirth WW et al. Enhanced survival of photoreceptors in P23H mutant rhodopsin transgenic rats by adeno-associated virus (AAV)-mediated delivery of neurotrophic genes. ARVO abstract 1998; 5149.
    • (1998) ARVO abstract , pp. 5149
    • Peterson, W.M.1    Flannery, J.G.2    Hauswirth, W.W.3
  • 19
    • 0031880563 scopus 로고    scopus 로고
    • Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa
    • Lewin AS, Drenser KA, Hauswirth WW, et al. Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nat Med 1998, 4:967-971.
    • (1998) Nat Med , vol.4 , pp. 967-971
    • Lewin, A.S.1    Drenser, K.A.2    Hauswirth, W.W.3
  • 27
    • 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
  • 28
    • 17344364275 scopus 로고    scopus 로고
    • Identification of the gene responsible for Best macular dystrophy
    • Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet 1998, 19:241-247.
    • (1998) Nat Genet , vol.19 , pp. 241-247
    • Petrukhin, K.1    Koisti, M.J.2    Bakall, B.3
  • 29
    • 0026895234 scopus 로고
    • Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
    • Stone EM, Nichols BE, Streb LM, et al. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1992, 1:246-250.
    • (1992) Nat Genet , vol.1 , pp. 246-250
    • Stone, E.M.1    Nichols, B.E.2    Streb, L.M.3
  • 30
    • 0027372405 scopus 로고
    • A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
    • Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993, 5:308-311.
    • (1993) Nat Genet , vol.5 , pp. 308-311
    • Kaplan, J.1    Gerber, S.2    Larget-Piet, D.3
  • 31
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997, 277:1805-1807.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 32
    • 0024745724 scopus 로고
    • Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3
    • McWilliams P, Farrar GJ, Kenna P, et al. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 1989, 5:619-622.
    • (1989) Genomics , vol.5 , pp. 619-622
    • McWilliams, P.1    Farrar, G.J.2    Kenna, P.3
  • 33
    • 0025043276 scopus 로고
    • Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • Dryja TP, McGee TI, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. New Eng J Med 1990, 323:1302-1307.
    • (1990) New Eng J Med , vol.323 , pp. 1302-1307
    • Dryja, T.P.1    McGee, T.I.2    Hahn, L.B.3
  • 34
    • 0030915701 scopus 로고    scopus 로고
    • Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
    • Arbour NC, Zlotogora J, Knowlton RG, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997, 6:689-694.
    • (1997) Hum Mol Genet , vol.6 , pp. 689-694
    • Arbour, N.C.1    Zlotogora, J.2    Knowlton, R.G.3
  • 35
    • 0031803762 scopus 로고    scopus 로고
    • Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    • Kohl S, Marx T, Giddings I, Jägle H, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998, 19:257-259.
    • (1998) Nat Genet , vol.19 , pp. 257-259
    • Kohl, S.1    Marx, T.2    Giddings, I.3    Jägle, H.4
  • 36
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16. The European Chromosome 16 Tuberous Sclerosis Consortium
    • Tuberous Sclerosis Consortium
    • Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. The European Chromosome 16 Tuberous Sclerosis Consortium. Cell 1993, 75:1305-1315.
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 37
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmentosa
    • Dryja TP, Li T Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995, 4:1739-1743.
    • (1995) Hum Mol Genet , vol.4 , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 38
    • 0024571803 scopus 로고
    • Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
    • Travis GH, Brennan MB, Danielson PE, et al. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989, 338:70-73.
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielson, P.E.3
  • 39
    • 0026078839 scopus 로고
    • Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse
    • Connell G, Bascom R, Molday L, et al. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA 1991, 88:723-726.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 723-726
    • Connell, G.1    Bascom, R.2    Molday, L.3
  • 40
    • 0025720710 scopus 로고
    • Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara K, Hahn LB, Mukai S, et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991, 354:480-483.
    • (1991) Nature , vol.354 , pp. 480-483
    • Kajiwara, K.1    Hahn, L.B.2    Mukai, S.3
  • 41
    • 0033027071 scopus 로고    scopus 로고
    • A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
    • Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 1999, 22:199-202.
    • (1999) Nat Genet , vol.22 , pp. 199-202
    • Stone, E.M.1    Lotery, A.J.2    Munier, F.L.3
  • 42
    • 3242719404 scopus 로고    scopus 로고
    • Missense variations in the fibulin 5 gene and age-related macular degeneration
    • Stone EM, Braun TA, Russell SR, et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 2004, 351:346-353.
    • (2004) N Engl J Med , vol.351 , pp. 346-353
    • Stone, E.M.1    Braun, T.A.2    Russell, S.R.3
  • 43
    • 0024406857 scopus 로고
    • A novel genetic system to detect protein-protein interactions
    • Fields S, Song O A novel genetic system to detect protein-protein interactions. Nature 1989, 340:245-246.
    • (1989) Nature , vol.340 , pp. 245-246
    • Fields, S.1    Song, O.2
  • 44
    • 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 CH, Makino C, Baylor D, et al. 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 1994, 14:5818-5833.
    • (1994) J Neurosci , vol.14 , pp. 5818-5833
    • Sung, C.H.1    Makino, C.2    Baylor, D.3
  • 45
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber BHF, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994, 8:352-355.
    • (1994) Nat Genet , vol.8 , pp. 352-355
    • Weber, B.H.F.1    Vogt, G.2    Pruett, R.C.3
  • 46
    • 0032479305 scopus 로고    scopus 로고
    • Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation
    • Langton KP, Barker MD, McKie N Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. J Biol Chem 1998, 273:16778-16781.
    • (1998) J Biol Chem , vol.273 , pp. 16778-16781
    • Langton, K.P.1    Barker, M.D.2    McKie, N.3
  • 47
    • 0031045876 scopus 로고    scopus 로고
    • Retinopathy induced in mice by targeted disruption of the rhodopsin gene
    • Humphries MM, Rancourt D, Farrar GJ, et al. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet 1997, 15:216-219.
    • (1997) Nat Genet , vol.15 , pp. 216-219
    • Humphries, M.M.1    Rancourt, D.2    Farrar, G.J.3
  • 48
    • 1942533542 scopus 로고    scopus 로고
    • Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration
    • Radu RA, Mata NL, Bagla A, et al. Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration. Proc Natl Acad Sci USA 2004, 101:5928-5933.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 5928-5933
    • Radu, R.A.1    Mata, N.L.2    Bagla, A.3
  • 49
    • 0026591170 scopus 로고
    • Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit
    • Lem J, Flannery JG, Li T, et al. Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit. Proc Natl Acad Sci USA 1992, 89:4422-4426.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4422-4426
    • Lem, J.1    Flannery, J.G.2    Li, T.3
  • 50
    • 0026625426 scopus 로고
    • Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice
    • Travis GH, Groshan KR, Lloyd M, et al. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron 1992, 9:113-119.
    • (1992) Neuron , vol.9 , pp. 113-119
    • Travis, G.H.1    Groshan, K.R.2    Lloyd, M.3
  • 51
    • 0026463972 scopus 로고
    • Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa
    • Olsson JE, Gordon JW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron 1992, 9:815-830.
    • (1992) Neuron , vol.9 , pp. 815-830
    • Olsson, J.E.1    Gordon, J.W.2    Pawlyk, B.S.3
  • 52
    • 0025007531 scopus 로고
    • Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity
    • Farrar GJ, McWilliam P, Bradley DG, et al. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 1990, 8:35-40.
    • (1990) Genomics , vol.8 , pp. 35-40
    • Farrar, G.J.1    McWilliam, P.2    Bradley, D.G.3
  • 53
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992, 1:209-213.
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3
  • 54
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja TP, Berson EL, Rao VR, Oprian DD Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 1993, 4:280-283.
    • (1993) Nat Genet , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 55
    • 0028125886 scopus 로고
    • Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
    • Rao VR, Cohen GB, Oprian DD Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 1994, 367:639-642.
    • (1994) Nature , vol.367 , pp. 639-642
    • Rao, V.R.1    Cohen, G.B.2    Oprian, D.D.3
  • 56
    • 0028860302 scopus 로고
    • A type VII myosin encoded by the mouse deafness gene shaker-1
    • Gibson F, Walsh J, Mburu P, et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995, 374:62-64.
    • (1995) Nature , vol.374 , pp. 62-64
    • Gibson, F.1    Walsh, J.2    Mburu, P.3
  • 57
    • 0030960855 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause nonsyndromic recessive deafness
    • Liu XZ, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause nonsyndromic recessive deafness. Nat Genet 1997, 16:188-190.
    • (1997) Nat Genet , vol.16 , pp. 188-190
    • Liu, X.Z.1    Walsh, J.2    Mburu, P.3
  • 58
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
    • Weil D, Kussel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997, 16:191-193.
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, P.2    Blanchard, S.3
  • 59
    • 0031278277 scopus 로고    scopus 로고
    • Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
    • Liu XZ, Walsh J, Tamagawa Y, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997, 17:268-269.
    • (1997) Nat Genet , vol.17 , pp. 268-269
    • Liu, X.Z.1    Walsh, J.2    Tamagawa, Y.3
  • 60
    • 0027253598 scopus 로고
    • A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
    • Nichols BE, Drake AV, Vandenburgh K, et al. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum Mol Genet 1993, 2:601-603.
    • (1993) Hum Mol Genet , vol.2 , pp. 601-603
    • Nichols, B.E.1    Drake, A.V.2    Vandenburgh, K.3
  • 61
    • 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, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993, 3:213-218.
    • (1993) Nat Genet , vol.3 , pp. 213-218
    • Wells, J.1    Wroblewski, J.2    Keen, J.3
  • 62
    • 0027528652 scopus 로고
    • A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
    • Kajiwara K, Sandberg MA, Berson EL, et al. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet 1993, 3:208-212.
    • (1993) Nat Genet , vol.3 , pp. 208-212
    • Kajiwara, K.1    Sandberg, M.A.2    Berson, E.L.3
  • 63
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994, 264:1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 64
    • 0026770736 scopus 로고
    • Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies
    • Bascom RA, Manara S, Collins L, et al. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 1992, 8:1171-1184.
    • (1992) Neuron , vol.8 , pp. 1171-1184
    • Bascom, R.A.1    Manara, S.2    Collins, L.3
  • 65
    • 0030474177 scopus 로고    scopus 로고
    • Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1
    • Goldberg AF, Molday RS Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc Natl Acad Sci USA 1996, 93:13726-13730.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 13726-13730
    • Goldberg, A.F.1    Molday, R.S.2
  • 66
    • 0032512412 scopus 로고    scopus 로고
    • Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa
    • Goldberg AF, Loewen CJ, Molday RS Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. Biochemistry 1998, 37:680-685.
    • (1998) Biochemistry , vol.37 , pp. 680-685
    • Goldberg, A.F.1    Loewen, C.J.2    Molday, R.S.3
  • 67
    • 0027260399 scopus 로고
    • Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study
    • Moore AT, Fitzke F, Jay M, et al. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol 1993, 77:473-479.
    • (1993) Br J Ophthalmol , vol.77 , pp. 473-479
    • Moore, A.T.1    Fitzke, F.2    Jay, M.3
  • 68
    • 0030731399 scopus 로고    scopus 로고
    • Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
    • McGee TL, Deveto M, Ott J, et al. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 1997, 61:1059-1066.
    • (1997) Am J Hum Genet , vol.61 , pp. 1059-1066
    • McGee, T.L.1    Deveto, M.2    Ott, J.3
  • 69
    • 0141765726 scopus 로고    scopus 로고
    • Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest
    • Vithana EN, Abu-Safieh L, Pelosini L, et al. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest. Ophthalmol Vis Sci 2003, 44:4204-4209.
    • (2003) Ophthalmol Vis Sci , vol.44 , pp. 4204-4209
    • Vithana, E.N.1    Abu-Safieh, L.2    Pelosini, L.3
  • 70
    • 0037133670 scopus 로고    scopus 로고
    • The vitelliform macular dystrophy protein defines a new family of chloride channels
    • Sun H, Tsunenari T, Yau KW, et al. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci USA 2002, 99:4008-4013.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 4008-4013
    • Sun, H.1    Tsunenari, T.2    Yau, K.W.3
  • 71
    • 0026089384 scopus 로고
    • Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His)
    • Berson EL, Rosner B, Sandberg MA, et al. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol 1991, 109(1):92-101.
    • (1991) Arch Ophthalmol , vol.109 , Issue.1 , pp. 92-101
    • Berson, E.L.1    Rosner, B.2    Sandberg, M.A.3
  • 72
    • 0032037626 scopus 로고    scopus 로고
    • De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
    • Freund CL, Wang QL, 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
  • 73
    • 0029589288 scopus 로고
    • Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family
    • Nakazawa M, Wada Y, Tamai M Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family. Retina 1995, 15:518-523.
    • (1995) Retina , vol.15 , pp. 518-523
    • Nakazawa, M.1    Wada, Y.2    Tamai, M.3
  • 74
    • 0030446544 scopus 로고    scopus 로고
    • Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene
    • Piguet B, Heon E, Munier FL, et al. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthal Genet 1996, 17:175-186.
    • (1996) Ophthal Genet , vol.17 , pp. 175-186
    • Piguet, B.1    Heon, E.2    Munier, F.L.3
  • 75
    • 0028589518 scopus 로고
    • Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1
    • Snead MP, Payne SJ, Barton DE, et al. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. Eye 1994, 8:609-614.
    • (1994) Eye , vol.8 , pp. 609-614
    • Snead, M.P.1    Payne, S.J.2    Barton, D.E.3
  • 76
    • 0030278147 scopus 로고    scopus 로고
    • Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome
    • Snead MP, Yates JR, Pope FM, et al. Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome. Graefes Arch Clin Exp Ophthalmol 1996, 234:720-721.
    • (1996) Graefes Arch Clin Exp Ophthalmol , vol.234 , pp. 720-721
    • Snead, M.P.1    Yates, J.R.2    Pope, F.M.3
  • 77
    • 0031834968 scopus 로고    scopus 로고
    • Patterns of visual field progression in patients with retinitis pigmentosa
    • Grover S, Fishman GA, Brown J Patterns of visual field progression in patients with retinitis pigmentosa. Ophthalmology 1998, 105:1069-1075.
    • (1998) Ophthalmology , vol.105 , pp. 1069-1075
    • Grover, S.1    Fishman, G.A.2    Brown, J.3
  • 78
    • 17344364213 scopus 로고    scopus 로고
    • DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
    • Nickerson DA, Taylor SL, Weiss KM, et al. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 1998, 19:233-240.
    • (1998) Nat Genet , vol.19 , pp. 233-240
    • Nickerson, D.A.1    Taylor, S.L.2    Weiss, K.M.3
  • 79
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997, 15:236-246.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 80
    • 0031795853 scopus 로고    scopus 로고
    • Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
    • Stone EM, Webster AR, Vandenburgh K, et al. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet 1998, 20:328-329.
    • (1998) Nat Genet , vol.20 , pp. 328-329
    • Stone, E.M.1    Webster, A.R.2    Vandenburgh, K.3
  • 81
    • 0029339936 scopus 로고
    • How neutral are synonymous codon mutations?
    • Richard I, Beckmann JS How neutral are synonymous codon mutations?. Nat Genet 1995, 10:259.
    • (1995) Nat Genet , vol.10 , pp. 259
    • Richard, I.1    Beckmann, J.S.2
  • 82
    • 0030728419 scopus 로고    scopus 로고
    • Molecular analysis of the androgen-receptor gene in a family with receptor positive partial androgen insensitivity: an unusual type of intronic mutation
    • Bruggenwirth HT, Boehmer AL, Ramnarain S, et al. Molecular analysis of the androgen-receptor gene in a family with receptor positive partial androgen insensitivity: an unusual type of intronic mutation. Am J Hum Genet 1997, 61:1067-1077.
    • (1997) Am J Hum Genet , vol.61 , pp. 1067-1077
    • Bruggenwirth, H.T.1    Boehmer, A.L.2    Ramnarain, S.3
  • 83
    • 0030639924 scopus 로고    scopus 로고
    • P1148A in fibrillin-1 is not a mutation anymore
    • Wang M, Mathews KR, Imaizumi K, et al. P1148A in fibrillin-1 is not a mutation anymore. Nat Genet 1997, 15:12.
    • (1997) Nat Genet , vol.15 , pp. 12
    • Wang, M.1    Mathews, K.R.2    Imaizumi, K.3
  • 84
    • 0031933645 scopus 로고    scopus 로고
    • Connexin mutations and hearing loss
    • Scott DA, Kraft ML, Stone EM, et al. Connexin mutations and hearing loss. Nature 1998, 391:32.
    • (1998) Nature , vol.391 , pp. 32
    • Scott, D.A.1    Kraft, M.L.2    Stone, E.M.3
  • 85
    • 0000869294 scopus 로고    scopus 로고
    • ABCR gene and age-related macular degeneration
    • Dryja TP, Briggs C, Berson EL, et al. ABCR gene and age-related macular degeneration. Sci Online 1998, 279:1107. http://www.sciencemag.org/cgi/content/full/279/5354/1107a.
    • (1998) Sci Online , vol.279 , pp. 1107
    • Dryja, T.P.1    Briggs, C.2    Berson, E.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.