메뉴 건너뛰기




Volumn 12, Issue 3, 1998, Pages 566-570

Animal models of human retinal dystrophies

Author keywords

Animal model; Cgmp; Peripherin RDS; Phosphodiesterase; Progressive retinal atrophy; Retinal dystrophy; Retinitis pigmentosa

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; PERIPHERIN;

EID: 0031822488     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.1998.146     Document Type: Article
Times cited : (36)

References (53)
  • 2
    • 0031004576 scopus 로고    scopus 로고
    • Molecular characterization of the tub, tulp1 and tulp2, members of the novel tubby gene family, and their possible relation to ocular diseases
    • North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina P. Molecular characterization of the TUB, TULP1 and TULP2, members of the novel tubby gene family, and their possible relation to ocular diseases. Proc Natl Acad Sci USA 1997;94:3128-33.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 3128-3133
    • North, M.A.1    Naggert, J.K.2    Yan, Y.3    Noben-Trauth, K.4    Nishina, P.5
  • 3
    • 0031611311 scopus 로고    scopus 로고
    • A review of research to elucidate the causes of generalized progressive retinal atrophies
    • Petersen-Jones SM. A review of research to elucidate the causes of generalized progressive retinal atrophies. Vet J 1998;155:5-18.
    • (1998) Vet J , vol.155 , pp. 5-18
    • Petersen-Jones, S.M.1
  • 6
    • 84985315122 scopus 로고
    • Retinal pigment epithelial dystrophy (Cpra): A study of the disease in the briard
    • Bedford PGC. Retinal pigment epithelial dystrophy (CPRA): a study of the disease in the briard. J Small Anim Pract 1984;25:129-38.
    • (1984) J Small Anim Pract , vol.25 , pp. 129-138
    • Bedford, P.G.C.1
  • 8
    • 0030249072 scopus 로고    scopus 로고
    • Selective absence of cone outer segment beta 3- transducin immunoreactivity in hereditary cone degeneration (cd)
    • Gropp KE, Szel A, Huang JC, Acland GM, Farber DB, Aguirre GD. Selective absence of cone outer segment beta 3- transducin immunoreactivity in hereditary cone degeneration (cd). Exp Eye Res 1996;63:285-96.
    • (1996) Exp Eye Res , vol.63 , pp. 285-296
    • Gropp, K.E.1    Szel, A.2    Huang, J.C.3    Acland, G.M.4    Farber, D.B.5    Aguirre, G.D.6
  • 10
    • 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. Nature Genet 1993;4:280-3.
    • (1993) Nature Genet , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 11
    • 0028128535 scopus 로고
    • Heterozygous missense mutation in the rod cgmp phosphodiesterase p-subunit gene in autosomal dominant stationary night blindness
    • Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase p-subunit gene in autosomal dominant stationary night blindness. Nature Genet 1994;7:64-8.
    • (1994) Nature Genet , vol.7 , pp. 64-68
    • Gal, A.1    Orth, U.2    Baehr, W.3    Schwinger, E.4    Rosenberg, T.5
  • 12
    • 0031038950 scopus 로고    scopus 로고
    • Defects in the rhodopsin kinase gene in the oguchi form of stationary night blindness
    • Yamamoto S, Sippel C, Berson EL, Dryja TP. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nature Genet 1997;15:175-8.
    • (1997) Nature Genet , vol.15 , pp. 175-178
    • Yamamoto, S.1    Sippel, C.2    Berson, E.L.3    Dryja, T.P.4
  • 13
    • 0029902034 scopus 로고    scopus 로고
    • Missense mutation in the gene encoding the ci 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 Ci subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nature Genet 1996;13:358-60.
    • (1996) Nature Genet , vol.13 , pp. 358-360
    • Dryja, T.P.1    Hahn, L.B.2    Reboul, T.3    Arnaud, B.4
  • 14
    • 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, Tarnai M, Oguchi Y, Gal A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nature Genet 1995;10:360-2.
    • (1995) Nature Genet , vol.10 , pp. 360-362
    • Fuchs, S.1    Nakazawa, M.2    Maw, M.3    Tarnai, M.4    Oguchi, Y.5    Gal, A.6
  • 16
    • 0016232976 scopus 로고
    • Retinal degeneration in the mouse
    • LaVail MM, Sidman RL. Retinal degeneration in the mouse. Arch Ophthalmol 1974;91:394-400.
    • (1974) Arch Ophthalmol , vol.91 , pp. 394-400
    • LaVail, M.M.1    Sidman, R.L.2
  • 17
    • 0016295763 scopus 로고
    • Cyclic guanosine monophosphate: Elevations in degenerating photoreceptor cells of the c3h mouse retina
    • Farber DB, Lolley RN. Cyclic guanosine monophosphate: elevations in degenerating photoreceptor cells of the C3H mouse retina. Science 1974;186:449-51.
    • (1974) Science , vol.186 , pp. 449-451
    • Farber, D.B.1    Lolley, R.N.2
  • 18
    • 0023938034 scopus 로고
    • Cyclic gmp- phosphodiesterase of rd retina: Biosynthesis and content
    • Farber DB, Park S, Yamashita C. Cyclic GMP- phosphodiesterase of rd retina: biosynthesis and content. Exp Eye Res 1988;46:363-74.
    • (1988) Exp Eye Res , vol.46 , pp. 363-374
    • Farber, D.B.1    Park, S.2    Yamashita, C.3
  • 19
    • 0024829572 scopus 로고
    • Isolation of a candidate cdna for the gene causing retinal degeneration in the rd mouse
    • Bowes C, Danciger M, Kozak CA, Farber DB. Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse. Proc Natl Acad Sci USA 1989;86:9722-6.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9722-9726
    • Bowes, C.1    Danciger, M.2    Kozak, C.A.3    Farber, D.B.4
  • 20
    • 0026083555 scopus 로고
    • Studies leading to the isolation of a cdna for the gene causing retinal degeneration in the rd mouse
    • Farber DB, Bowes C, Danciger M. Studies leading to the isolation of a cDNA for the gene causing retinal degeneration in the rd mouse. Prog Clin Biol Res 1991;362:67-86.
    • (1991) Prog Clin Biol Res , vol.362 , pp. 67-86
    • Farber, D.B.1    Bowes, C.2    Danciger, M.3
  • 21
    • 0024990758 scopus 로고
    • Retinal degeneration in the rd mouse is caused by a defect in the p 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 p subunit of rod cGMP-phosphodiesterase. Nature 1990;347:677-80.
    • (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
    • 0026072333 scopus 로고
    • Identification of a nonsense mutation in the rod photoreceptor cgmp phosphodiesterase p-subunit gene of the rd mouse
    • Pittler SJ, Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase p-subunit gene of the rd mouse. Proc Natl Acad Sci USA 1991;88:8322-6.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8322-8326
    • Pittler, S.J.1    Baehr, W.2
  • 24
    • 0026591170 scopus 로고
    • Retinal degeneration is rescued in transgenic rd mice by expression of the cgmp phosphodiesterase p subunit
    • Lem J, Flannery JG, Li T, Applebury ML, Farber DB. Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase p subunit. Proc Natl Acad Sci USA 1992;89:4422-6.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4422-4426
    • Lem, J.1    Flannery, J.G.2    Li, T.3    Applebury, M.L.4    Farber, D.B.5
  • 25
    • 0026806221 scopus 로고
    • The beta subunit of cyclic gmp phosphodiesterase mrna is deficient in canine rod-cone dysplasia 1
    • Farber DB, Danciger JS, Aguirre G. The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron 1992;9:349-56.
    • (1992) Neuron , vol.9 , pp. 349-356
    • Farber, D.B.1    Danciger, J.S.2    Aguirre, G.3
  • 26
    • 0018180182 scopus 로고
    • Rod-cone dysplasia in irish setters: A defect in cyclic gmp metabolism in visual cells
    • Aguirre GD, Farber D, Lolley R, Fletcher RT, Chader GJ. Rod-cone dysplasia in Irish setters: a defect in cyclic GMP metabolism in visual cells. Science 1978;201:1133-4.
    • (1978) Science , vol.201 , pp. 1133-1134
    • Aguirre, G.D.1    Farber, D.2    Lolley, R.3    Fletcher, R.T.4    Chader, G.J.5
  • 27
    • 0018667046 scopus 로고
    • Involvement of cyclic gmp phosphodiesterase activator in an hereditary retinal degeneration
    • Liu YP, Krishna G, Aguirre G, Chader G. Involvement of cyclic GMP phosphodiesterase activator in an hereditary retinal degeneration. Nature 1979;280:62-4.
    • (1979) Nature , vol.280 , pp. 62-64
    • Liu, Y.P.1    Krishna, G.2    Aguirre, G.3    Chader, G.4
  • 28
    • 0027262347 scopus 로고
    • Irish setter dogs affected with rod-cone dysplasia contain a nonsense mutation in the rod cgmp phosphodiesterase beta-subunit gene
    • Suber ML, Pittler SJ, Quin N, Wright GC, Holcombe N, Lee RH, et al. Irish setter dogs affected with rod-cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci USA 1993;90:3968-72.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 3968-3972
    • Suber, M.L.1    Pittler, S.J.2    Quin, N.3    Wright, G.C.4    Holcombe, N.5    Lee, R.H.6
  • 29
    • 0027521606 scopus 로고
    • Confirmation of the rod cgmp phosphodiesterase p-subunit (Pdep) nonsense mutation in affected rcd-1 irish setters in the uk and development of a diagnostic test
    • Clements PJM, Gregory CY, Petersen-Jones SM, Sargan DR, Bhattacharya SS. Confirmation of the rod cGMP phosphodiesterase p-subunit (PDEp) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr Eye Res 1993;12:861-6.
    • (1993) Curr Eye Res , vol.12 , pp. 861-866
    • Clements, P.1    Gregory, C.Y.2    Petersen-Jones, S.M.3    Sargan, D.R.4    Bhattacharya, S.S.5
  • 31
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the p-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the p-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet 1993;4:130-4.
    • (1993) Nature Genet , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 33
    • 2642657405 scopus 로고
    • Mutations in the beta subunit of rod phosphodiesterase in patients with autosomal recessive retinitis pigmentosa
    • McLaughlin ME, Ehrhart TL, Sandberg MA, Berson EL. Mutations in the beta subunit of rod phosphodiesterase in patients with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (Suppl) 1994;35:2162.
    • (1994) Invest Ophthalmol Vis Sci (Suppl) , vol.2162 , pp. 35
    • McLaughlin, M.E.1    Ehrhart, T.L.2    Sandberg, M.A.3    Berson, E.L.4
  • 35
    • 0028939390 scopus 로고
    • Mutation spectrum of the gene encoding the beta 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 beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 1995;92:3249-53.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 3249-3253
    • McLaughlin, M.E.1    Ehrhart, T.L.2    Berson, E.L.3    Dryja, T.P.4
  • 36
    • 0024852932 scopus 로고
    • Non-allelism of three genes (Rcdl, rcd2 and er£1) for early- onset hereditary retinal degeneration
    • Acland GM, Fletcher RT, Gentleman S, Chader GJ, Aguirre GD. Non-allelism of three genes (rcdl, rcd2 and er£1) for early- onset hereditary retinal degeneration. Exp Eye Res 1989;49:983-98.
    • (1989) Exp Eye Res , vol.49 , pp. 983-998
    • Acland, G.M.1    Fletcher, R.T.2    Gentleman, S.3    Chader, G.J.4    Aguirre, G.D.5
  • 37
    • 0019301491 scopus 로고
    • An inherited retinopathy in collies: A light and electron microscopic study
    • Santos-Anderson RM, Tso M, Wolf ED. An inherited retinopathy in collies: a light and electron microscopic study. Invest Ophthalmol Vis Sci 1980;19:1282-94.
    • (1980) Invest Ophthalmol Vis Sci , vol.19 , pp. 1282-1294
    • Santos-Anderson, R.M.1    Tso, M.2    Wolf, E.D.3
  • 39
    • 0000573567 scopus 로고    scopus 로고
    • Exclusion of o1- transducin gene as a candidate from four non-allelic forms of canine progressive retinal atrophy
    • Ray K, Zeiss C, Acland GM, Aguirre GD. Exclusion of o1- transducin gene as a candidate from four non-allelic forms of canine progressive retinal atrophy. Invest Ophthalmol Vis Sci (Suppl) 1996;37:4558.
    • (1996) Invest Ophthalmol Vis Sci (Suppl) , vol.37 , pp. 4558
    • Ray, K.1    Zeiss, C.2    Acland, G.M.3    Aguirre, G.D.4
  • 40
    • 33750188903 scopus 로고    scopus 로고
    • Canine rod specific cgmp phosphodiesterase "i-subunit (Pdeg) gene and its role in rod-cone dysplasia type2 (rcd2)
    • Wang W, Acland GM, Aguirre GD, Ray K. Canine rod specific cGMP phosphodiesterase "I-subunit (PDEG) gene and its role in rod-cone dysplasia type2 (RCD2). Invest Ophthalmol Vis Sci (Suppl) 1996;37:4559.
    • (1996) Invest Ophthalmol Vis Sci (Suppl) , vol.37 , pp. 4559
    • Wang, W.1    Acland, G.M.2    Aguirre, G.D.3    Ray, K.4
  • 41
    • 0030576167 scopus 로고    scopus 로고
    • Cloning and characterization of the cdna encoding the alpha-subunit of cgmp-phosphodiesterase in canine retinal rod photoreceptor cells
    • Wang W, Acland GM, Aguirre GD, Ray K. Cloning and characterization of the cDNA encoding the alpha-subunit of cGMP-phosphodiesterase in canine retinal rod photoreceptor cells. Molecular Vision (http://www emory edu/ Molecular_Vision/index html) 1996;2.
    • (1996) Molecular Vision , pp. 2
    • Wang, W.1    Acland, G.M.2    Aguirre, G.D.3    Ray, K.4
  • 42
    • 0345292532 scopus 로고    scopus 로고
    • Probable exclusion of 3 subunits of canine rod specific cgmp phosphodiesterase as candidates for rod-cone dysplasia type 2 (Rcd2)
    • Wang W, Acland GM, Aguirre GD, Ray K. Probable exclusion of 3 subunits of canine rod specific cGMP phosphodiesterase as candidates for rod-cone dysplasia type 2 (rcd2). Invest Ophthalmol Vis Sci (Suppl) 1997;38:1515.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 1515
    • Wang, W.1    Acland, G.M.2    Aguirre, G.D.3    Ray, K.4
  • 43
    • 0029988174 scopus 로고    scopus 로고
    • Elevation of cgmp with normal expression and activity of rod cgmp-pde in photoreceptor degenerate labrador retrievers
    • Kommonen B, Kylma T, Cohen RJ, Penn JS, Paulin L. Hurwitz MY, Hurwitz RL. Elevation of cGMP with normal expression and activity of rod cGMP-PDE in photoreceptor degenerate Labrador retrievers. Vision Res 1996;28:19-28.
    • (1996) Vision Res , vol.28 , pp. 19-28
    • Kommonen, B.1    Kylma, T.2    Cohen, R.J.3    Penn, J.S.4    Paulin, L.5    Hurwitz, M.Y.6    Hurwitz, R.L.7
  • 44
    • 0024499984 scopus 로고
    • Photoreceptor dysplasia in the abyssinian cat: Biochemical and electrophysiological evidence for abnormal cyclic nucleotide metabolism
    • Hussain AA, Leon A, Curtis R, Barnett KC. Photoreceptor dysplasia in the Abyssinian cat: biochemical and electrophysiological evidence for abnormal cyclic nucleotide metabolism. Biochem Soc Trans 1989;17:221-2.
    • (1989) Biochem Soc Trans , vol.17 , pp. 221-222
    • Hussain, A.A.1    Leon, A.2    Curtis, R.3    Barnett, K.C.4
  • 45
    • 0018174467 scopus 로고
    • A new h-2 linked mutation, rds, causing retinal degeneration in the mouse
    • Van Nie R, Ivanyi D, Demant P. A new H-2 linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens 1978;12:106-8.
    • (1978) Tissue Antigens , vol.12 , pp. 106-108
    • Van Nie, R.1    Ivanyi, D.2    Demant, P.3
  • 46
    • 0024571803 scopus 로고
    • Identification of a photoreceptor-specific mrna encoded by the gene responsible for retinal degeneration slow (Rds)
    • Travis GH, Brennan MB, Danielsen PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989;338:70-3.
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielsen, P.E.3    Kozak, C.A.4    Sutcliffe, J.G.5
  • 47
    • 0025371311 scopus 로고
    • Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane
    • Connell GJ, Molday RS. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry 1990;29:4691-8.
    • (1990) Biochemistry , vol.29 , pp. 4691-4698
    • Connell, G.J.1    Molday, R.S.2
  • 48
    • 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, Reid D, McInnes RR, Molday RS. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA 1991;88:723-6.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 723-726
    • Connell, G.1    Bascom, R.2    Molday, L.3    Reid, D.4    McInnes, R.R.5    Molday, R.S.6
  • 49
    • 0026053969 scopus 로고
    • The retinal degeneration slow (Rds) gene product is a photoreceptor disc membrane- associated glycoprotein
    • Travis GH, Sutcliffe JG, Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane- associated glycoprotein. Neuron 1991;6:61-70.
    • (1991) Neuron , vol.6 , pp. 61-70
    • Travis, G.H.1    Sutcliffe, J.G.2    Bok, D.3
  • 51
    • 0029094912 scopus 로고
    • Burns jl, et al. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon ii
    • Ma J, Norton JC, Allen JC, Burns JB, Hasel KW, Burns JL, et al. Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II. Genomics 1995;28:212-9.
    • (1995) Genomics , vol.28 , pp. 212-219
    • Ma, J.1    Norton, J.C.2    Allen, J.C.3    Burns, J.B.4    Hasel, K.W.5
  • 52
    • 0026625426 scopus 로고
    • Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (Rds) mice
    • Travis GH, Groshan KR, Lloyd M, Bok D. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron 1992;9:113-9.
    • (1992) Neuron , vol.9 , pp. 113-119
    • Travis, G.H.1    Groshan, K.R.2    Lloyd, M.3    Bok, D.4
  • 53
    • 0029842023 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the human peripherin/rds gene and their involvement in inherited retinal degeneration
    • Keen TJ, Inglehearn CF. Mutations and polymorphisms in the human peripherin/rds gene and their involvement in inherited retinal degeneration. Hum Mut 1996;8:297-303.
    • (1996) Hum Mut , vol.8 , pp. 297-303
    • Keen, T.J.1    Inglehearn, C.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.