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Volumn 43, Issue 4, 1999, Pages 321-334

Retinitis pigmentosa: Defined from a molecular point of view

Author keywords

Genetics; Phosphodiesterase; Photoreceptor retinal; Pigment epithelium; Retinitis pigmentosa; Visual transduction; Vitamin A

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; RETINOL; RHODOPSIN;

EID: 0032938659     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0039-6257(98)00046-0     Document Type: Article
Times cited : (246)

References (149)
  • 1
    • 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 15:236-245, 1997
    • (1997) Nat Genet , vol.15 , pp. 236-245
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 2
    • 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 277:1805-1807, 1997
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 3
    • 0028123295 scopus 로고
    • Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
    • Al-Maghtheh M, Inglehearn CF, Keen TJ, et al: Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 3:351-354, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 351-354
    • Al-Maghtheh, M.1    Inglehearn, C.F.2    Keen, T.J.3
  • 4
    • 0029797311 scopus 로고    scopus 로고
    • Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype
    • Al-Maghtheh M, Vithana E, Tarttelin E, et al: Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype. Am J Hum Genet 59:864-871, 1996
    • (1996) Am J Hum Genet , vol.59 , pp. 864-871
    • Al-Maghtheh, M.1    Vithana, E.2    Tarttelin, E.3
  • 5
    • 0030756190 scopus 로고    scopus 로고
    • Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
    • Andréasson S, Ponjavic V, Abrahamson M, et al: Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol 124:95-102, 1997
    • (1997) Am J Ophthalmol , vol.124 , pp. 95-102
    • Andréasson, S.1    Ponjavic, V.2    Abrahamson, M.3
  • 6
    • 0028900170 scopus 로고
    • Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene
    • Apfelstedt-Sylla E, Theischen M, Rüther K, et al: Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol 79:28-34, 1995
    • (1995) Br J Ophthalmol , vol.79 , pp. 28-34
    • Apfelstedt-Sylla, E.1    Theischen, M.2    Rüther, K.3
  • 7
    • 0030983124 scopus 로고    scopus 로고
    • The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
    • Azarian SM, Travis GH: The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett 409:247-252, 1997
    • (1997) FEBS Lett , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 8
    • 17144456542 scopus 로고    scopus 로고
    • TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
    • Banerjee P, Kleyn PW, Knowles JA, et al: TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet 18:177-179, 1998
    • (1998) Nat Genet , vol.18 , pp. 177-179
    • Banerjee, P.1    Kleyn, P.W.2    Knowles, J.A.3
  • 9
    • 0026668037 scopus 로고
    • Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: Sublocalization to human 11q13 between PGA and PYGM
    • Bascom RA, Garcia-Heras J, Hsieh CL, et al: Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. Am J Hum Genet 51:1028-1035, 1992
    • (1992) Am J Hum Genet , vol.51 , pp. 1028-1035
    • Bascom, R.A.1    Garcia-Heras, J.2    Hsieh, C.L.3
  • 10
    • 0026770736 scopus 로고
    • Cloning of the cDNA for a novel photoreceptor protein (rom-1) identifies a disk rim protein family implicated in human retinopathies
    • Bascom RA, Manara S, Collins L, Molday RS, Kalnins VI, McInnes RR: Cloning of the cDNA for a novel photoreceptor protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 8:1171-1184, 1993
    • (1993) Neuron , vol.8 , pp. 1171-1184
    • Bascom, R.A.1    Manara, S.2    Collins, L.3    Molday, R.S.4    Kalnins VI5    McInnes, R.R.6
  • 12
    • 0029143376 scopus 로고
    • An eight locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
    • Bardien S, Ebenezer N, Greenberg J, et al: An eight locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 4:1459-1462, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 1459-1462
    • Bardien, S.1    Ebenezer, N.2    Greenberg, J.3
  • 13
    • 0026446319 scopus 로고
    • Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium
    • Bavik CO, Busch C, Eriksson U: Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium. J Biol Chem 267:23035-23042, 1992
    • (1992) J Biol Chem , vol.267 , pp. 23035-23042
    • Bavik, C.O.1    Busch, C.2    Eriksson, U.3
  • 14
    • 0029005186 scopus 로고
    • Evidence against the involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
    • Bayes M, Valverde D, Balcells S, et al: Evidence against the involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet 96:89-94, 1995
    • (1995) Hum Genet , vol.96 , pp. 89-94
    • Bayes, M.1    Valverde, D.2    Balcells, S.3
  • 15
    • 0030054244 scopus 로고    scopus 로고
    • How photons start vision
    • Baylor D: How photons start vision. Proc Natl Acad Sci USA 93:560-565, 1996
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 560-565
    • Baylor, D.1
  • 16
    • 0021344697 scopus 로고
    • Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
    • Bhattacharya SS, Wright AF, Clayton JF, et al: Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253-255, 1984
    • (1984) Nature , vol.309 , pp. 253-255
    • Bhattacharya, S.S.1    Wright, A.F.2    Clayton, J.F.3
  • 17
    • 0026419320 scopus 로고
    • Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1
    • Bisschof FR, Ponstingl H: Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1. Nature 354:80-82, 1991
    • (1991) Nature , vol.354 , pp. 80-82
    • Bisschof, F.R.1    Ponstingl, H.2
  • 18
    • 0029035306 scopus 로고
    • Retinal photoreceptor dystrophies
    • Bird AC: Retinal photoreceptor dystrophies. Am J Ophthalmol 199:543-562, 1995
    • (1995) Am J Ophthalmol , vol.199 , pp. 543-562
    • Bird, A.C.1
  • 19
    • 0026347736 scopus 로고
    • Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
    • Blanton SH, Heckenlively JR, Cottingham AW, et al: Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11:857-869, 1991
    • (1991) Genomics , vol.11 , pp. 857-869
    • Blanton, S.H.1    Heckenlively, J.R.2    Cottingham, A.W.3
  • 20
    • 0025030229 scopus 로고
    • Processing and transport of retinoids by the retinal pigment epithelium
    • Bok D: Processing and transport of retinoids by the retinal pigment epithelium. Eye 4:326-332, 1990
    • (1990) Eye , vol.4 , pp. 326-332
    • Bok, D.1
  • 21
    • 0024990758 scopus 로고
    • Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase
    • Bowes C, Li T, Danciger M, Baxter LC, Applebury ML, Farber DB: Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase. Nature 347:677-680, 1990
    • (1990) Nature , vol.347 , pp. 677-680
    • Bowes, C.1    Li, T.2    Danciger, M.3    Baxter, L.C.4    Applebury, M.L.5    Farber, D.B.6
  • 22
    • 33947233962 scopus 로고
    • Hereditary pigmentary degeneration of the retina
    • Tasman W, Jaeger A (eds): Philadelphia, JB Lippincott, chap 24
    • Carr RE, Heckenlively JR: Hereditary pigmentary degeneration of the retina, in Tasman W, Jaeger A (eds): Duane's Clinical Ophthalmology. Philadelphia, JB Lippincott, 1989, vol 3, chap 24
    • (1989) Duane's Clinical Ophthalmology , vol.3
    • Carr, R.E.1    Heckenlively, J.R.2
  • 23
    • 0027158799 scopus 로고
    • A new subunit of the cyclic nucleotide-gated cation channel in retinal rods
    • Chen T-Y, Peng Y-W, Dhallan RS, et al: A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. Proc Natl Acad Sci USA 362:764-767, 1993
    • (1993) Proc Natl Acad Sci USA , vol.362 , pp. 764-767
    • Chen, T.-Y.1    Peng, Y.-W.2    Dhallan, R.S.3
  • 24
    • 0020554804 scopus 로고
    • Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice
    • Cohen AI: Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice. Invest Ophthalmol Vis Sci 24:832-843, 1983
    • (1983) Invest Ophthalmol Vis Sci , vol.24 , pp. 832-843
    • Cohen, A.I.1
  • 25
    • 16944365980 scopus 로고    scopus 로고
    • Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel
    • Colville CA, Molday RS: Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel. J Biol Chem 271:32968-32974, 1996
    • (1996) J Biol Chem , vol.271 , pp. 32968-32974
    • Colville, C.A.1    Molday, R.S.2
  • 26
    • 0025371311 scopus 로고
    • Molecular cloning, primary structure and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disc membrane
    • Connell GJ, Molday RS: Molecular cloning, primary structure and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disc membrane. Biochemistry 29:4691-4698, 1990
    • (1990) Biochemistry , vol.29 , pp. 4691-4698
    • Connell, G.J.1    Molday, R.S.2
  • 27
    • 0026044040 scopus 로고
    • Topological and epitope mapping of the cellular retinaldehyde-binding protein from retina
    • Crabb JW, Gaur VP, Garwin GG, et al: Topological and epitope mapping of the cellular retinaldehyde-binding protein from retina. J Biol Chem 266:16674-16683, 1991
    • (1991) J Biol Chem , vol.266 , pp. 16674-16683
    • Crabb, J.W.1    Gaur, V.P.2    Garwin, G.G.3
  • 28
    • 6844259885 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice mutations in the Stargardt's disease. ABCR
    • Cremers FPM, van de Pol DJR, van Driel M, et al: Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice mutations in the Stargardt's disease. ABCR. Hum Mol Genet 7:355-362, 1998
    • (1998) Hum Mol Genet , vol.7 , pp. 355-362
    • Cremers, F.P.M.1    Van De Pol, D.J.R.2    Van Driel, M.3
  • 29
    • 33847520769 scopus 로고    scopus 로고
    • Daiger SP: http://utsph.sph.uth.tmc.edu/www/utsph/Ret Net/home.htm
    • Daiger, S.P.1
  • 30
    • 0028867410 scopus 로고
    • Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa
    • Danciger M, Blaney J, Gao YQ, et al: Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 30:1-7, 1995
    • (1995) Genomics , vol.30 , pp. 1-7
    • Danciger, M.1    Blaney, J.2    Gao, Y.Q.3
  • 31
    • 0344144553 scopus 로고
    • Pigmentary retinopathy associated with neurological disease
    • de Jong JMBV (ed): Amsterdam, Elsevier Science Publishers BV
    • De Jong PTVM, Bruyn GW, de Jong JMBV: Pigmentary retinopathy associated with neurological disease, in de Jong JMBV (ed): Handbook of Clinical Neurology. Amsterdam, Elsevier Science Publishers BV, 1991, vol 16, pp 717-749
    • (1991) Handbook of Clinical Neurology , vol.16 , pp. 717-749
    • De Jong, P.T.V.M.1    Bruyn, G.W.2    De Jong, J.M.B.V.3
  • 32
    • 0026686171 scopus 로고
    • Human rod photoreceptor cGMP-gated channel: Amino acid sequence, gene structure, and functional expression
    • Dhallan RS, Macke JP, Eddy RL, et al: Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. J Neurosci 12:3248-3256, 1992
    • (1992) J Neurosci , vol.12 , pp. 3248-3256
    • Dhallan, R.S.1    Macke, J.P.2    Eddy, R.L.3
  • 33
    • 0025105161 scopus 로고
    • A point mutation in the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee T, Reichel E, et al: A point mutation in the rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364-366, 1990
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.2    Reichel, E.3
  • 34
    • 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 4:280-283, 1993
    • (1993) Nat Genet , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 35
    • 0028820045 scopus 로고
    • Mutation in the gene encoding the a-subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
    • Dryja TP, Finn JT, Peng Y-W, et al: Mutation in the gene encoding the a-subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 92:10177-10181, 1995
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 10177-10181
    • Dryja, T.P.1    Finn, J.T.2    Peng, Y.-W.3
  • 36
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmentosa
    • Dryja TP, Li T: Molecular genetics of retinitis pigmentosa. Hum Mol Genet 4:1739-1743, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 37
    • 0029902034 scopus 로고    scopus 로고
    • Missense mutation in the gene encoding the a subunit of rod transducin in the Nougaret form of congenital stationary night blindness
    • Dryja TP, Hahn LB, Reboul T, Arnaud B: Missense mutation in the gene encoding the a subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet 13:358-360, 1996
    • (1996) Nat Genet , vol.13 , pp. 358-360
    • Dryja, T.P.1    Hahn, L.B.2    Reboul, T.3    Arnaud, B.4
  • 38
    • 0030931136 scopus 로고    scopus 로고
    • Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
    • Dryja TP, Hahn LB, Kajiwaara K, Berson EL: Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sei 38:1972-1982, 1997
    • (1997) Invest Ophthalmol Vis Sei , vol.38 , pp. 1972-1982
    • Dryja, T.P.1    Hahn, L.B.2    Kajiwaara, K.3    Berson, E.L.4
  • 39
    • 0028027318 scopus 로고
    • Exchange of retinol between IRBP and CRBP
    • Edwards RB, Adler AJ: Exchange of retinol between IRBP and CRBP. Exp Eye Res 59:161-170, 1994
    • (1994) Exp Eye Res , vol.59 , pp. 161-170
    • Edwards, R.B.1    Adler, A.J.2
  • 40
    • 0027444823 scopus 로고
    • Photoreceptor degeneration in vitamin a deprivation and retinitis pigmentosa: The equivalent light hypothesis
    • Fain GL, Lisman JE: Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa: the equivalent light hypothesis. Exp Eye Res 57:335-340, 1993
    • (1993) Exp Eye Res , vol.57 , pp. 335-340
    • Fain, G.L.1    Lisman, J.E.2
  • 41
    • 0021964795 scopus 로고
    • Autosomal dominant retinitis pigmentosa: A method of classification
    • Fishman GA, Alexander KR, Anderson RJ: Autosomal dominant retinitis pigmentosa: A method of classification. Arch Ophthalmol 103:366-374, 1985
    • (1985) Arch Ophthalmol , vol.103 , pp. 366-374
    • Fishman, G.A.1    Alexander, K.R.2    Anderson, R.J.3
  • 42
    • 0031019503 scopus 로고    scopus 로고
    • Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy
    • Fishman GA, Stone EM, Alexander KR, et al: Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Ophthalmology 104:299-306, 1997
    • (1997) Ophthalmology , vol.104 , pp. 299-306
    • Fishman, G.A.1    Stone, E.M.2    Alexander, K.R.3
  • 45
    • 0029067542 scopus 로고
    • A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
    • Fuchs S, Nakazawa M, Maw M, et al: A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 10:360-363, 1995
    • (1995) Nat Genet , vol.10 , pp. 360-363
    • Fuchs, S.1    Nakazawa, M.2    Maw, M.3
  • 46
    • 16944362660 scopus 로고    scopus 로고
    • Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families
    • Fujita R, Buraczynaka M, Gieser L, et al: Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. AmJ Hum Genet 61:571-580, 1997
    • (1997) AmJ Hum Genet , vol.61 , pp. 571-580
    • Fujita, R.1    Buraczynaka, M.2    Gieser, L.3
  • 47
    • 0028128535 scopus 로고
    • A heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness
    • Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T: A heterozygous missense mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal dominant stationary night blindness. Nat Genet 7:64-68, 1994
    • (1994) Nat Genet , vol.7 , pp. 64-68
    • Gal, A.1    Orth, U.2    Baehr, W.3    Schwinger, E.4    Rosenberg, T.5
  • 48
    • 0028880438 scopus 로고
    • Heterologous expression of photoreceptor/rds and Rom-1 in COS-1 cells: Assembly, interactions and localisation of subunit complexes
    • Goldberg AFX, Moritz OL, Molday RS: Heterologous expression of photoreceptor/rds and Rom-1 in COS-1 cells: assembly, interactions and localisation of subunit complexes. Biochemistry 34:14213-14219, 1995
    • (1995) Biochemistry , vol.34 , pp. 14213-14219
    • Goldberg, A.F.X.1    Moritz, O.L.2    Molday, R.S.3
  • 49
    • 0029942496 scopus 로고    scopus 로고
    • Subunit composition of the peripherin/rds-Rom-1 disk rim complex from rod photoreceptors: Hydrodynamic evidence for a tetrameric quaternary structure
    • Goldberg AFX, Molday RS: Subunit composition of the peripherin/rds-Rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochemistry 35:6144-6149, 1996
    • (1996) Biochemistry , vol.35 , pp. 6144-6149
    • Goldberg, A.F.X.1    Molday, R.S.2
  • 50
    • 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 AFX, 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 93:13726-13730, 1996
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 13726-13730
    • Goldberg, A.F.X.1    Molday, R.S.2
  • 51
    • 0028858741 scopus 로고
    • Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene
    • Goto Y, Peachey NS, Ripps H, Naash MI: Functional abnormalities in transgenic mice expressing a mutant rhodopsin gene. Invest Ophthalmol Vis Sci 36:62-71, 1995
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , pp. 62-71
    • Goto, Y.1    Peachey, N.S.2    Ripps, H.3    Naash, M.I.4
  • 52
    • 0029102831 scopus 로고
    • Guanylyl cyclase activating protein: A calcium-sensitive regulator of phototransduction
    • Gorczyca WA, Polans AS, Surgucheva IG, et al: Guanylyl cyclase activating protein: A calcium-sensitive regulator of phototransduction. J Biol Chem 270:22029-22036, 1995
    • (1995) J Biol Chem , vol.270 , pp. 22029-22036
    • Gorczyca, W.A.1    Polans, A.S.2    Surgucheva, I.G.3
  • 53
    • 0028363788 scopus 로고
    • A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
    • Greenberg J, Goliath R, Beighton P, Ramesar R: A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 3:915-918, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 915-918
    • Greenberg, J.1    Goliath, R.2    Beighton, P.3    Ramesar, R.4
  • 54
    • 0031255068 scopus 로고    scopus 로고
    • Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    • Gu S, Thompson DA, Srikumari CR, et al: Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 17:194-197, 1997
    • (1997) Nat Genet , vol.17 , pp. 194-197
    • Gu, S.1    Thompson, D.A.2    Srikumari, C.R.3
  • 55
    • 0031942582 scopus 로고    scopus 로고
    • Recessive mutations in the gene encoding the tubbylike protein TULP1 in patients with retinitis pigmentosa
    • Hagstrom SA, North MA, Nishina PM, Berson EL, Dryja TP: Recessive mutations in the gene encoding the tubbylike protein TULP1 in patients with retinitis pigmentosa. Nat Genet 18:174-176, 1998
    • (1998) Nat Genet , vol.18 , pp. 174-176
    • Hagstrom, S.A.1    North, M.A.2    Nishina, P.M.3    Berson, E.L.4    Dryja, T.P.5
  • 56
    • 0028274964 scopus 로고
    • Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa
    • Hahn LB, Berson EL, Dryja TP: Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest Ophthalmol Vis Sei 35:1077-1082, 1994
    • (1994) Invest Ophthalmol Vis Sei , vol.35 , pp. 1077-1082
    • Hahn, L.B.1    Berson, E.L.2    Dryja, T.P.3
  • 57
    • 0028272994 scopus 로고
    • The gene for the retinal pigment epitheliumspecific protein RPE65 is localized to human 1p31 and mouse 3
    • Hamel CP, Jenkins NA, Gilbert DJ, Copeland NG, Redmond TM: The gene for the retinal pigment epitheliumspecific protein RPE65 is localized to human 1p31 and mouse 3. Genomics 20:509-512, 1994
    • (1994) Genomics , vol.20 , pp. 509-512
    • Hamel, C.P.1    Jenkins, N.A.2    Gilbert, D.J.3    Copeland, N.G.4    Redmond, T.M.5
  • 58
    • 0022295906 scopus 로고
    • Development and degeneration of retina in rds mutant mice: Photoreceptor abnormalities in the heterozygotes
    • Hawkins RK, Jansen HG, Sanyal S: Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp Eye Res 41:701-720, 1985
    • (1985) Exp Eye Res , vol.41 , pp. 701-720
    • Hawkins, R.K.1    Jansen, H.G.2    Sanyal, S.3
  • 59
    • 0016212538 scopus 로고
    • Retinal degeneration in monkeys induced by deficiencies of vitamin e or a
    • Hayes KG: Retinal degeneration in monkeys induced by deficiencies of vitamin E or A. Invest Ophthalmol Vis Sei 13:499-510, 1974
    • (1974) Invest Ophthalmol Vis Sei , vol.13 , pp. 499-510
    • Hayes, K.G.1
  • 60
    • 0345007009 scopus 로고
    • Clinical findings in retinitis pigmentosa
    • Heckenlively JR (ed): Philadelphia, JB Lippincott Company
    • Heckenlively JR: Clinical findings in retinitis pigmentosa, in Heckenlively JR (ed): Retinitis Pigmentosa. Philadelphia, JB Lippincott Company, 1988, pp 68-89
    • (1988) Retinitis Pigmentosa , pp. 68-89
    • Heckenlively, J.R.1
  • 61
    • 0028789921 scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the α-subunit of rod cGMP phosphodiesterase
    • Huang SH, Pittler SJ, Huang X, et al: Autosomal recessive retinitis pigmentosa caused by mutations in the α-subunit of rod cGMP phosphodiesterase. Nat Genet 11:468-471, 1995
    • (1995) Nat Genet , vol.11 , pp. 468-471
    • Huang, S.H.1    Pittler, S.J.2    Huang, X.3
  • 62
    • 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 15:216-219, 1997
    • (1997) Nat Genet , vol.15 , pp. 216-219
    • Humphries, M.M.1    Rancourt, D.2    Farrar, G.J.3
  • 63
    • 0030753004 scopus 로고    scopus 로고
    • Retinoid acid: A key molecule for eye and photoreceptor development
    • Hyatt GA, Dowling JE: Retinoid acid: A key molecule for eye and photoreceptor development. Invest Ophthalmol Vis Sei 38:1471-1475, 1997
    • (1997) Invest Ophthalmol Vis Sei , vol.38 , pp. 1471-1475
    • Hyatt, G.A.1    Dowling, J.E.2
  • 64
    • 0027309259 scopus 로고
    • A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p
    • Inglehearn CF, Carter SA, Keen TJ, et al: A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet 4:51-53, 1993
    • (1993) Nat Genet , vol.4 , pp. 51-53
    • Inglehearn, C.F.1    Carter, S.A.2    Keen, T.J.3
  • 65
    • 0031959835 scopus 로고    scopus 로고
    • A linkage survey of 20 dominant retinitis pigmentosa families: Frequencies of nine known loci and evidence for further heterogeneity
    • Inglehearn CF, Tarttelin EE, Plant C, et al: A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of nine known loci and evidence for further heterogeneity. J Med Genet 35:1-5, 1998
    • (1998) J Med Genet , vol.35 , pp. 1-5
    • Inglehearn, C.F.1    Tarttelin, E.E.2    Plant, C.3
  • 67
    • 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 Sei 38:1983-1997, 1997
    • (1997) Invest Ophthalmol Vis Sei , vol.38 , pp. 1983-1997
    • Jacobson, S.G.1    Buraczynska, M.2    Milam, A.H.3
  • 68
    • 0019971687 scopus 로고
    • On the hereditary of retinitis pigmentosa
    • Jay M: On the hereditary of retinitis pigmentosa. Br J Ophthalmol 66:405-416, 1982
    • (1982) Br J Ophthalmol , vol.66 , pp. 405-416
    • Jay, M.1
  • 69
    • 0027155177 scopus 로고
    • Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
    • Jordan SA, Farrar GJ, Kenna P, et al: Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet 4:54-58, 1993
    • (1993) Nat Genet , vol.4 , pp. 54-58
    • Jordan, S.A.1    Farrar, G.J.2    Kenna, P.3
  • 70
    • 0025720710 scopus 로고
    • Mutations in the retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara K, Hahn LB, Mukai S, et al: Mutations in the retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354:480-483, 1991
    • (1991) Nature , vol.354 , pp. 480-483
    • Kajiwara, K.1    Hahn, L.B.2    Mukai, S.3
  • 71
    • 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, Diyja TP: A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet 3:208-212, 1993
    • (1993) Nat Genet , vol.3 , pp. 208-212
    • Kajiwara, K.1    Sandberg, M.A.2    Berson, E.L.3    Diyja, T.P.4
  • 72
    • 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 264:1604-1607, 1994
    • (1994) Science , vol.264 , pp. 1604-1607
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 73
  • 74
    • 0031045823 scopus 로고    scopus 로고
    • Generation and analysis of transgenic mice expressing P216L-substituted Rds/peripherin in rod photoreceptors
    • Kedzierski W, Lloyd M, Birch DG, Bok D, Travis GH: Generation and analysis of transgenic mice expressing P216L-substituted Rds/peripherin in rod photoreceptors. Invest Ophthalmol Vis Sei 38:498-509, 1997
    • (1997) Invest Ophthalmol Vis Sei , vol.38 , pp. 498-509
    • Kedzierski, W.1    Lloyd, M.2    Birch, D.G.3    Bok, D.4    Travis, G.H.5
  • 75
    • 0028918439 scopus 로고
    • Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression
    • Kim RY, Fitzke FW, Moore AT, et al: Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. BrJ Ophthalmol 79:23-27, 1995
    • (1995) BrJ Ophthalmol , vol.79 , pp. 23-27
    • Kim, R.Y.1    Fitzke, F.W.2    Moore, A.T.3
  • 76
    • 0028964821 scopus 로고
    • Interaction of the nuclear GTP-binding protein Ran with its regulatory proteins RCC1 and RanGAPl
    • Klebe C, Bischoff FR, Ponstingl H, Wittinghofer A: Interaction of the nuclear GTP-binding protein Ran with its regulatory proteins RCC1 and RanGAPl. Biochemistry 34:639-647, 1995
    • (1995) Biochemistry , vol.34 , pp. 639-647
    • Klebe, C.1    Bischoff, F.R.2    Ponstingl, H.3    Wittinghofer, A.4
  • 77
    • 0029033531 scopus 로고
    • Inhibition of rhodopsin kinase by recoverin: Further evidence for a negative feedback system in phototransduction
    • Klenchin VA, Calvert PD, Bownds MD: Inhibition of rhodopsin kinase by recoverin: Further evidence for a negative feedback system in phototransduction. J Biol Chem 270:16147-16152, 1995
    • (1995) J Biol Chem , vol.270 , pp. 16147-16152
    • Klenchin, V.A.1    Calvert, P.D.2    Bownds, M.D.3
  • 78
    • 15844372440 scopus 로고    scopus 로고
    • Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
    • Kleyn PW, Fan W, Kovats SG, et al: Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell 85:281-290, 1996
    • (1996) Cell , vol.85 , pp. 281-290
    • Kleyn, P.W.1    Fan, W.2    Kovats, S.G.3
  • 79
    • 0028017387 scopus 로고
    • Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p
    • Knowles JA, Shugart Y, Banerjee P, et al: Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Mol Genet 3:1401-1403, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 1401-1403
    • Knowles, J.A.1    Shugart, Y.2    Banerjee, P.3
  • 80
    • 0030070407 scopus 로고    scopus 로고
    • Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa
    • Kojis TL, Heinzmann C, Flodman P, et al: Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. AmJ Hum Genet 58:347-355, 1996
    • (1996) AmJ Hum Genet , vol.58 , pp. 347-355
    • Kojis, T.L.1    Heinzmann, C.2    Flodman, P.3
  • 81
    • 0028122479 scopus 로고
    • Missense rhodopsin mutation in a family with recessive RP
    • Kumaramanickavel G, Maw M, Denton MJ, et al: Missense rhodopsin mutation in a family with recessive RP. Nat Genet 8:10-11, 1994
    • (1994) Nat Genet , vol.8 , pp. 10-11
    • Kumaramanickavel, G.1    Maw, M.2    Denton, M.J.3
  • 82
    • 0030475229 scopus 로고    scopus 로고
    • Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments
    • Li T, Snyder WK, Olsson JE, Dryja TP: Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sei USA 93:14176-14181, 1996
    • (1996) Proc Natl Acad Sei USA , vol.93 , pp. 14176-14181
    • Li, T.1    Snyder, W.K.2    Olsson, J.E.3    Dryja, T.P.4
  • 83
    • 0028917492 scopus 로고
    • Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan
    • Leutelt J, Oehlmann R, Younus F, et al: Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan. Clin Genet 47:122-124, 1995
    • (1995) Clin Genet , vol.47 , pp. 122-124
    • Leutelt, J.1    Oehlmann, R.2    Younus, F.3
  • 84
    • 0016363491 scopus 로고
    • Fundus albipunctatus and vitamin a deficiency
    • Levy NS, Toskes PP: Fundus albipunctatus and vitamin A deficiency. AmJ Ophthalmol 78:926-929, 1974
    • (1974) AmJ Ophthalmol , vol.78 , pp. 926-929
    • Levy, N.S.1    Toskes, P.P.2
  • 85
    • 0017645989 scopus 로고
    • Cyclic GMP accumulation causes degeneration of photoreceptor cells: Simulation of an inherited disease
    • Lolley RN, Farber DB, Rayborn ME, Hollyfield JG: Cyclic GMP accumulation causes degeneration of photoreceptor cells: simulation of an inherited disease. Science 196:664-666, 1977
    • (1977) Science , vol.196 , pp. 664-666
    • Lolley, R.N.1    Farber, D.B.2    Rayborn, M.E.3    Hollyfield, J.G.4
  • 86
    • 0029094912 scopus 로고
    • Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II
    • MaJ, Norton JC, Alien AC, et al: Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II. Genomics 28:212-219, 1995
    • (1995) Genomics , vol.28 , pp. 212-219
    • Ma, J.1    Norton, J.C.2    Alien, A.C.3
  • 87
    • 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 17:139-141, 1997
    • (1997) Nat Genet , vol.17 , pp. 139-141
    • Marlhens, F.1    Bareil, C.2    Griffoin, J.-M.3
  • 88
    • 0031568891 scopus 로고    scopus 로고
    • A new locus for autosomal, recessive retinitis pigmentosa (RP19) maps to Ipl3-p21
    • Martinez-Mir A, Bayes M, Vilageliu L, et al: A new locus for autosomal, recessive retinitis pigmentosa (RP19) maps to Ipl3-p21. Genomics 40:142-146, 1997
    • (1997) Genomics , vol.40 , pp. 142-146
    • Martinez-Mir, A.1    Bayes, M.2    Vilageliu, L.3
  • 89
    • 1842296355 scopus 로고    scopus 로고
    • Putative association of a mutant ROM1 allele with retinitis pigmentosa
    • Martinez-Mir A, Vilela C, Bayes M, et al: Putative association of a mutant ROM1 allele with retinitis pigmentosa. Hum Genet 99:827-830, 1997
    • (1997) Hum Genet , vol.99 , pp. 827-830
    • Martinez-Mir, A.1    Vilela, C.2    Bayes, M.3
  • 90
    • 0023257672 scopus 로고
    • Membrane turnover in rod photoreceptors: Ensheathment and phagocytosis of outer segment distal tips by pseudopodia of the retinal pigment epithelium
    • Matsumoto B, Defoe DM, BesharseJC: Membrane turnover in rod photoreceptors: ensheathment and phagocytosis of outer segment distal tips by pseudopodia of the retinal pigment epithelium. Proc R Soc Lond B Biol Sei 230:339-354, 1987
    • (1987) Proc R Soc Lond B Biol Sei , vol.230 , pp. 339-354
    • Matsumoto, B.1    Defoe, D.M.2    Besharse, J.C.3
  • 91
    • 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 17:198-200, 1997
    • (1997) Nat Genet , vol.17 , pp. 198-200
    • Maw, M.A.1    Kennedy, B.2    Knight, A.3
  • 92
    • 0028831395 scopus 로고
    • Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: Linkage mapping in a second unrelated family
    • McGuire RE, Cannon AM, Sullivan LS, Rodriguez JA, Daiger SP: Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second unrelated family. Hum Genet 95:71-74, 1995
    • (1995) Hum Genet , vol.95 , pp. 71-74
    • McGuire, R.E.1    Cannon, A.M.2    Sullivan, L.S.3    Rodriguez, J.A.4    Daiger, S.P.5
  • 93
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin ME, Sandberg MA, Berson EL, Dryja TP: Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet 4:130-133, 1993
    • (1993) Nat Genet , vol.4 , pp. 130-133
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 94
    • 0028939390 scopus 로고
    • Mutation spectrum of the gene encoding the β-subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
    • McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP: Mutation spectrum of the gene encoding the β-subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Nad Acad Sei USA 92:3249-3253, 1995
    • (1995) Proc Nad Acad Sei USA , vol.92 , pp. 3249-3253
    • McLaughlin, M.E.1    Ehrhart, T.L.2    Berson, E.L.3    Dryja, T.P.4
  • 95
    • 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, Hermann 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 13:35-42, 1996
    • (1996) Nat Genet , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Hermann, K.3
  • 96
    • 0029760228 scopus 로고    scopus 로고
    • Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q
    • Mohamed Z, Bell C, Hammer HM, et al: Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. J Med Genet 33:714-715, 1996
    • (1996) J Med Genet , vol.33 , pp. 714-715
    • Mohamed, Z.1    Bell, C.2    Hammer, H.M.3
  • 97
    • 0030056368 scopus 로고    scopus 로고
    • Molecular cloning, membrane topology, and localization of bovine Rom-1 in rod and cone photoreceptor cells
    • Moritz OL, Molday RS: Molecular cloning, membrane topology, and localization of bovine Rom-1 in rod and cone photoreceptor cells. Invest Ophthalmol Vis Sei 37:352-362, 1996
    • (1996) Invest Ophthalmol Vis Sei , vol.37 , pp. 352-362
    • Moritz, O.L.1    Molday, R.S.2
  • 98
    • 0025064781 scopus 로고
    • Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families
    • Mussarella MA, Anson-Cartwright L, Leal SM, et al: Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics 8:286-296, 1990
    • (1990) Genomics , vol.8 , pp. 286-296
    • Mussarella, M.A.1    Anson-Cartwright, L.2    Leal, S.M.3
  • 99
    • 0027251934 scopus 로고
    • Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene
    • Naash MI, Hollyfield JG, Al-Ubaidi MR, Baehr W: Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sei USA 90:5499-5503, 1993
    • (1993) Proc Natl Acad Sei USA , vol.90 , pp. 5499-5503
    • Naash, M.I.1    Hollyfield, J.G.2    Al-Ubaidi, M.R.3    Baehr, W.4
  • 100
    • 0029970778 scopus 로고    scopus 로고
    • Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene
    • Nakazawa M, Naoi N, Wada Y, et al: Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. Retina 16:405-410, 1996
    • (1996) Retina , vol.16 , pp. 405-410
    • Nakazawa, M.1    Naoi, N.2    Wada, Y.3
  • 101
    • 0031894886 scopus 로고    scopus 로고
    • Arrestin gene mutations in autosomal recessive retinitis pigmentosa
    • Nakazawa M, Wada Y, Tamai M: Arrestin gene mutations in autosomal recessive retinitis pigmentosa. Arch Ophthalmol 116:498-501, 1998
    • (1998) Arch Ophthalmol , vol.116 , pp. 498-501
    • Nakazawa, M.1    Wada, Y.2    Tamai, M.3
  • 102
    • 0026643593 scopus 로고
    • Rhodopsin: Structure, function and genetics
    • Nathans J: Rhodopsin: Structure, function and genetics. Biochemistry 31:4923-4931, 1992
    • (1992) Biochemistry , vol.31 , pp. 4923-4931
    • Nathans, J.1
  • 103
    • 0027401094 scopus 로고
    • Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation of codon 167 of the RDS gene
    • Nichols BE, Sheffield VC, Vandenberg K, et al: Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation of codon 167 of the RDS gene. Nat Genet 3:202-207, 1993
    • (1993) Nat Genet , vol.3 , pp. 202-207
    • Nichols, B.E.1    Sheffield, V.C.2    Vandenberg, K.3
  • 104
    • 0031004576 scopus 로고    scopus 로고
    • Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases
    • North MA, Knaggert JK, Yan Y, Noben-Trauth K, Nishina PM: Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sei USA 94:3128-3133, 1997
    • (1997) Proc Natl Acad Sei USA , vol.94 , pp. 3128-3133
    • North, M.A.1    Knaggert, J.K.2    Yan, Y.3    Noben-Trauth, K.4    Nishina, P.M.5
  • 105
    • 0025190712 scopus 로고
    • Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus heterogeneity tests
    • Ott J, Bhattacharya S, Chen JD, et al: Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus heterogeneity tests. Proc Natl Acad Sei USA 87:701-704, 1990
    • (1990) Proc Natl Acad Sei USA , vol.87 , pp. 701-704
    • Ott, J.1    Bhattacharya, S.2    Chen, J.D.3
  • 106
    • 0024269064 scopus 로고
    • Retinitis pigmentosa
    • Pagon RA: Retinitis pigmentosa. Surv Ophthalmol 33:137-177, 1988
    • (1988) Surv Ophthalmol , vol.33 , pp. 137-177
    • Pagon, R.A.1
  • 107
    • 0030989004 scopus 로고    scopus 로고
    • Evaluation of the gene encoding recoverin in patients with retinitis pigmentosa or an allied disease
    • Parminder AH, Murakami A, Inana G, Berson EL, Diyja TP: Evaluation of the gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. Invest Ophthalmol Vis Sei 38:704-709, 1997
    • (1997) Invest Ophthalmol Vis Sei , vol.38 , pp. 704-709
    • Parminder, A.H.1    Murakami, A.2    Inana, G.3    Berson, E.L.4    Diyja, T.P.5
  • 108
    • 0028601349 scopus 로고
    • Cloning and characterization of the gene encoding the cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor cells
    • Piriev NI, Khramtsov NV, Lipkin VM: Cloning and characterization of the gene encoding the cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor cells. Gene 151:297-301, 1994
    • (1994) Gene , vol.151 , pp. 297-301
    • Piriev, N.I.1    Khramtsov, N.V.2    Lipkin, V.M.3
  • 109
    • 0025268781 scopus 로고
    • Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene
    • Pittler SJ, Baehr W, Wasmuth JJ, et al: Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. Genomics 6:272-283, 1990
    • (1990) Genomics , vol.6 , pp. 272-283
    • Pittler, S.J.1    Baehr, W.2    Wasmuth, J.J.3
  • 110
    • 0026072333 scopus 로고
    • Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse
    • Pittler SJ, Baehr W: Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sei USA 88:8322-8326, 1991
    • (1991) Proc Natl Acad Sei USA , vol.88 , pp. 8322-8326
    • Pittler, S.J.1    Baehr, W.2
  • 111
    • 0026640824 scopus 로고
    • Primary structure and chromosomal localisation of human and mouse rod photoreceptor cGMP-gated cation channel
    • Pittler SJ, Lee AK, Altherr MR, et al: Primary structure and chromosomal localisation of human and mouse rod photoreceptor cGMP-gated cation channel. J Biol Chem 267:6257-6262, 1992
    • (1992) J Biol Chem , vol.267 , pp. 6257-6262
    • Pittler, S.J.1    Lee, A.K.2    Altherr, M.R.3
  • 112
    • 0028125886 scopus 로고
    • Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness
    • Rao VR, Cohen GB, Oprian DD: Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness. Nature 367:639-641, 1994
    • (1994) Nature , vol.367 , pp. 639-641
    • Rao, V.R.1    Cohen, G.B.2    Oprian, D.D.3
  • 113
    • 0025003565 scopus 로고
    • Analysis of genes coding for S-antigen, interstitional retinoid binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa
    • Ringens PJ, Fang M, Shinohara T, et al: Analysis of genes coding for S-antigen, interstitional retinoid binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sei 31:1421-1426, 1990
    • (1990) Invest Ophthalmol Vis Sei , vol.31 , pp. 1421-1426
    • Ringens, P.J.1    Fang, M.2    Shinohara, T.3
  • 115
    • 15844362841 scopus 로고    scopus 로고
    • Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)
    • Roepman R, Bauer D, Rosenberg T, et al: Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum Mol Genet 5:827-833, 1996
    • (1996) Hum Mol Genet , vol.5 , pp. 827-833
    • Roepman, R.1    Bauer, D.2    Rosenberg, T.3
  • 116
    • 8944241311 scopus 로고    scopus 로고
    • Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
    • Roepman R, van Duijnhoven G, Rosenberg T, et al: Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 5:1035-1041, 1996
    • (1996) Hum Mol Genet , vol.5 , pp. 1035-1041
    • Roepman, R.1    Van Duijnhoven, G.2    Rosenberg, T.3
  • 117
    • 0028110523 scopus 로고
    • Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene
    • Roof DJ, Adamian M, Hayes A: Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene. Invest Ophthalmol Vis Sei 35:4049-4062, 1994
    • (1994) Invest Ophthalmol Vis Sei , vol.35 , pp. 4049-4062
    • Roof, D.J.1    Adamian, M.2    Hayes, A.3
  • 118
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld JR, Cowley GS, McGee TL, et al: A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1:209-213, 1992
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, J.R.1    Cowley, G.S.2    McGee, T.L.3
  • 119
    • 0030087693 scopus 로고    scopus 로고
    • The small nuclear GTPase Ran: How much does it run?
    • Rush M, Drivas G, D'Eustachio P: The small nuclear GTPase Ran: how much does it run? Bioassays 18:103-112, 1996
    • (1996) Bioassays , vol.18 , pp. 103-112
    • Rush, M.1    Drivas, G.2    D'Eustachio, P.3
  • 120
    • 0030867457 scopus 로고    scopus 로고
    • G-protein deactivation is rate-limiting for the shut-off of the phototransduction cascade
    • Sagoo MS, Lagnado L: G-protein deactivation is rate-limiting for the shut-off of the phototransduction cascade. Nature 389:392-395, 1997
    • (1997) Nature , vol.389 , pp. 392-395
    • Sagoo, M.S.1    Lagnado, L.2
  • 121
    • 0029074147 scopus 로고
    • A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa
    • Sakuma H, Inana G, Murakami A, et al: A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa. Genomics 27:384-386, 1995
    • (1995) Genomics , vol.27 , pp. 384-386
    • Sakuma, H.1    Inana, G.2    Murakami, A.3
  • 122
    • 0019134423 scopus 로고
    • Development and degeneration of retina in rds mutant mice: Light microscopy
    • Sanyal S, de Ruiter A, Hawkins RK: Development and degeneration of retina in rds mutant mice: light microscopy. J Comp Neurol 194:193-207, 1980
    • (1980) J Comp Neurol , vol.194 , pp. 193-207
    • Sanyal, S.1    De Ruiter, A.2    Hawkins, R.K.3
  • 123
    • 0030929196 scopus 로고    scopus 로고
    • Lights out: Deactivation of the phototransduction cascade
    • Scott K, Zuker C: Lights out: deactivation of the phototransduction cascade. Trends Biochem Sei 22:350-354, 1997
    • (1997) Trends Biochem Sei , vol.22 , pp. 350-354
    • Scott, K.1    Zuker, C.2
  • 124
    • 0028060401 scopus 로고
    • Retinitis pigmentosa and related disorders: Phenotypes of rhodopsin and peripherin/RDS mutations
    • Shastry BS: Retinitis pigmentosa and related disorders: Phenotypes of rhodopsin and peripherin/RDS mutations. Am J Med Genet 52:467-474, 1994
    • (1994) Am J Med Genet , vol.52 , pp. 467-474
    • Shastry, B.S.1
  • 125
    • 0029056633 scopus 로고
    • Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21
    • Shugart Y, Banerjee P, Knowles JA, et al: Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am J Hum Genet 57:499-502, 1995
    • (1995) Am J Hum Genet , vol.57 , pp. 499-502
    • Shugart, Y.1    Banerjee, P.2    Knowles, J.A.3
  • 126
    • 0028816843 scopus 로고
    • The retinal pigment epithelial-specific 11-cis-retinal dehydrogenase belongs to the family of short chain alcohol dehydrogenases
    • Simon A, Hellman U, Wenstedt C, Eriksson U: The retinal pigment epithelial-specific 11-cis-retinal dehydrogenase belongs to the family of short chain alcohol dehydrogenases. J Biol Chem 270:1107-1112, 1995
    • (1995) J Biol Chem , vol.270 , pp. 1107-1112
    • Simon, A.1    Hellman, U.2    Wenstedt, C.3    Eriksson, U.4
  • 127
    • 0028798659 scopus 로고
    • Dark-light: Model for nightblindness from the human rhodopsin Gly-90→Asp mutation
    • Sieving PA, Richards JE, Naarendorp F, et al: Dark-light: model for nightblindness from the human rhodopsin Gly-90→Asp mutation. Proc Natl Acad Sei USA 92:880-884, 1995
    • (1995) Proc Natl Acad Sei USA , vol.92 , pp. 880-884
    • Sieving, P.A.1    Richards, J.E.2    Naarendorp, F.3
  • 129
    • 0026605518 scopus 로고
    • Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to chromosome 15q26 and mouse chromosome 7
    • Sparkes RS, Heinzmann C, Goldflam S, et al: Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to chromosome 15q26 and mouse chromosome 7. Genomics 12:58-62, 1992
    • (1992) Genomics , vol.12 , pp. 58-62
    • Sparkes, R.S.1    Heinzmann, C.2    Goldflam, S.3
  • 130
    • 0025822625 scopus 로고
    • Visual excitation and recovery
    • Stryer L: Visual excitation and recovery. J Biol Chem 266:10711-10714, 1991
    • (1991) J Biol Chem , vol.266 , pp. 10711-10714
    • Stryer, L.1
  • 131
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa
    • Sung C-H, Davenport CM, Nathans J: Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. J Biol Chem 268:26645-26649, 1993
    • (1993) J Biol Chem , vol.268 , pp. 26645-26649
    • Sung, C.-H.1    Davenport, C.M.2    Nathans, J.3
  • 132
    • 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, Makino C, Baylor D, Nathans J: 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
    • (1994) J Neurosci , vol.14 , pp. 5818-5833
    • Sung, C.-H.1    Makino, C.2    Baylor, D.3    Nathans, J.4
  • 133
    • 0029975380 scopus 로고    scopus 로고
    • A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p
    • Tarttelin EE, Plant C, Weissenbach J, et al: A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. J Med Genet 33:518-520, 1996
    • (1996) J Med Genet , vol.33 , pp. 518-520
    • Tarttelin, E.E.1    Plant, C.2    Weissenbach, J.3
  • 134
    • 0029841724 scopus 로고    scopus 로고
    • Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping
    • Thiselton DL, Hampson RM, Nayudu M, et al: Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome Res 6:1092-1102, 1996
    • (1996) Genome Res , vol.6 , pp. 1092-1102
    • Thiselton, D.L.1    Hampson, R.M.2    Nayudu, M.3
  • 135
    • 0028947938 scopus 로고
    • Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration
    • Tiansen L, Franson WK, Gordon JW, Berson EL, Dryja TP: Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sei USA 92:3551-3555, 1995
    • (1995) Proc Natl Acad Sei USA , vol.92 , pp. 3551-3555
    • Tiansen, L.1    Franson, W.K.2    Gordon, J.W.3    Berson, E.L.4    Dryja, T.P.5
  • 136
    • 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, Kozak CA, Sutcliffe JG: Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338:70-73, 1989
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielson, P.E.3    Kozak, C.A.4    Sutcliffe, J.G.5
  • 137
    • 0025827541 scopus 로고
    • The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA
    • Travis GH, Christerson L, Danielson PE, et al: The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics 10:733-739, 1991
    • (1991) Genomics , vol.10 , pp. 733-739
    • Travis, G.H.1    Christerson, L.2    Danielson, P.E.3
  • 138
    • 0029740113 scopus 로고    scopus 로고
    • Retinal degeneration in mice lacking the γ subunit of the rod cGMP phosphodiesterase
    • Tsang SH, Gouras P, Yamashita CK, et al: Retinal degeneration in mice lacking the γ subunit of the rod cGMP phosphodiesterase. Science 272:1026-1029, 1996
    • (1996) Science , vol.272 , pp. 1026-1029
    • Tsang, S.H.1    Gouras, P.2    Yamashita, C.K.3
  • 139
    • 0019284685 scopus 로고
    • Sensitivity of photoreceptors to elevated levels of cGMP in the human retina
    • Ulshafer RJ, Garcia CA, Hollyfield JG: Sensitivity of photoreceptors to elevated levels of cGMP in the human retina. Invest Ophthalmol Vis Sei 19:1236-1241, 1980
    • (1980) Invest Ophthalmol Vis Sei , vol.19 , pp. 1236-1241
    • Ulshafer, R.J.1    Garcia, C.A.2    Hollyfield, J.G.3
  • 140
    • 13344250487 scopus 로고    scopus 로고
    • A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family
    • Valverde D, Solans T, Grinberg D, et al: A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum Genet 97:35-38, 1996
    • (1996) Hum Genet , vol.97 , pp. 35-38
    • Valverde, D.1    Solans, T.2    Grinberg, D.3
  • 141
    • 0027933727 scopus 로고
    • Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population
    • van Soest S, van den Born LI, Gal A, et al: Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 22:499-504, 1994
    • (1994) Genomics , vol.22 , pp. 499-504
    • Van Soest, S.1    Van Den Born, L.I.2    Gal, A.3
  • 142
    • 0025992248 scopus 로고
    • Genomic organisation and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4pl6.3
    • Weber B, Riess O, Hutchinson G, et al: Genomic organisation and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4pl6.3. Nucleic Acids Res 19:6263-6268, 1991
    • (1991) Nucleic Acids Res , vol.19 , pp. 6263-6268
    • Weber, B.1    Riess, O.2    Hutchinson, G.3
  • 143
    • 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, Sheffield VC, Stone EM: 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
    • (1993) Arch Ophthalmol , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphey, W.H.3    Sheffield, V.C.4    Stone, E.M.5
  • 144
    • 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 3:213-218, 1993
    • (1993) Nat Genet , vol.3 , pp. 213-218
    • Wells, J.1    Wroblewski, J.2    Keen, J.3
  • 145
    • 0028020094 scopus 로고
    • Ocular findings associated with a 3 base pair deletion in the peripherin/RDS gene in autosomal dominant retinitis pigmentosa
    • Wroblewski JJ, Wells JA III, Eckstein A, et al: Ocular findings associated with a 3 base pair deletion in the peripherin/RDS gene in autosomal dominant retinitis pigmentosa. BrJ Ophthalmol 78:831-836, 1994
    • (1994) BrJ Ophthalmol , vol.78 , pp. 831-836
    • Wroblewski, J.J.1    Wells III, J.A.2    Eckstein, A.3
  • 146
    • 0029838709 scopus 로고    scopus 로고
    • A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1
    • Xu SY, Schwartz M, Rosenberg T, Gal A: A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Hum Mol Genet 8:1193-1197, 1996
    • (1996) Hum Mol Genet , vol.8 , pp. 1193-1197
    • Xu, S.Y.1    Schwartz, M.2    Rosenberg, T.3    Gal, A.4
  • 147
    • 0029909126 scopus 로고    scopus 로고
    • Genetic mapping of RP1 on 8qll-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285
    • Xu SY, Denton M, Sullivan LS, Daiger SP, Gal A: Genetic mapping of RP1 on 8qll-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. Hum Genet 98:741-743, 1996
    • (1996) Hum Genet , vol.98 , pp. 741-743
    • Xu, S.Y.1    Denton, M.2    Sullivan, L.S.3    Daiger, S.P.4    Gal, A.5
  • 148
    • 0030788051 scopus 로고    scopus 로고
    • Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa
    • Yamamoto S, Khani SC, Berson EL, Diyja TP: Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. Exp Eye Res 65:249-253, 1997
    • (1997) Exp Eye Res , vol.65 , pp. 249-253
    • Yamamoto, S.1    Khani, S.C.2    Berson, E.L.3    Diyja, T.P.4
  • 149
    • 0031038950 scopus 로고    scopus 로고
    • Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
    • Yamamoto S, Sippel KG, Berson EL, Diyja TP: Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 15:175-178, 1997
    • (1997) Nat Genet , vol.15 , pp. 175-178
    • Yamamoto, S.1    Sippel, K.G.2    Berson, E.L.3    Diyja, T.P.4


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