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Volumn 136, Issue 2, 2003, Pages 306-313

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

EID: 0041848367     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(03)00206-X     Document Type: Article
Times cited : (36)

References (39)
  • 1
    • 0033817044 scopus 로고    scopus 로고
    • Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation
    • Oh K.T., Weleber R.G., Lotery A., et al. Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. Arch Ophthalmol. 118:2000;1269-1276.
    • (2000) Arch Ophthalmol , vol.118 , pp. 1269-1276
    • Oh, K.T.1    Weleber, R.G.2    Lotery, A.3
  • 2
    • 0027103787 scopus 로고
    • Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa
    • Dryja T.P. Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye. 6:(Pt 1):1992;1-10.
    • (1992) Eye , vol.6 , Issue.PART 1 , pp. 1-10
    • Dryja, T.P.1
  • 3
    • 0027537949 scopus 로고
    • Retinitis pigmentosa. The Friedenwald Lecture
    • Berson E.L. Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci. 34:1993;1659-1676.
    • (1993) Invest Ophthalmol Vis Sci , vol.34 , pp. 1659-1676
    • Berson, E.L.1
  • 4
    • 0025542207 scopus 로고
    • Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect
    • Berson E.L. Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect. Trans Am Ophthalmol Soc. 88:1990;355-388.
    • (1990) Trans Am Ophthalmol Soc , vol.88 , pp. 355-388
    • Berson, E.L.1
  • 5
    • 0025043276 scopus 로고
    • Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • Dryja T.P., McGee T.L., Hahn L.P., et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 323:1990;1302-1307.
    • (1990) N Engl J Med , vol.323 , pp. 1302-1307
    • Dryja, T.P.1    McGee, T.L.2    Hahn, L.P.3
  • 6
    • 0025990215 scopus 로고
    • Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
    • Dryja T.P., Hahn L.B., Cowley G.S., McGee T.L., Berson E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 88:1991;9370-9374.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 9370-9374
    • Dryja, T.P.1    Hahn, L.B.2    Cowley, G.S.3    McGee, T.L.4    Berson, E.L.5
  • 7
    • 0031959835 scopus 로고    scopus 로고
    • A linkage survey of 20 dominant retinitis pigmentosa families: Frequencies of the nine known loci and evidence for further heterogeneity
    • Inglehearn C.F., Tarttelin E.E., Plant C., et al. A linkage survey of 20 dominant retinitis pigmentosa families frequencies of the nine known loci and evidence for further heterogeneity . J Med Genet. 35:1998;1-5.
    • (1998) J Med Genet , vol.35 , pp. 1-5
    • Inglehearn, C.F.1    Tarttelin, E.E.2    Plant, C.3
  • 8
    • 0026058548 scopus 로고
    • Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
    • Sung C.H., Schneider B.G., Agaarwal N., Papermaster D.S., Nathans J. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 88:1991;8840-8844.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 8840-8844
    • Sung, C.H.1    Schneider, B.G.2    Agaarwal, N.3    Papermaster, D.S.4    Nathans, J.5
  • 9
    • 0026209385 scopus 로고
    • Rhodopsin mutations in autosomal dominant retinitis pigmentosa
    • Sung C.H., Davenport C.M., Hennessey J.C., et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 88:1991;6481-6485.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 6481-6485
    • Sung, C.H.1    Davenport, C.M.2    Hennessey, J.C.3
  • 10
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
    • Sung C.H., Davenport C.M., Nathans J. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. J Biol Chem. 268:1993;26645-26649.
    • (1993) J Biol Chem , vol.268 , pp. 26645-26649
    • Sung, C.H.1    Davenport, C.M.2    Nathans, J.3
  • 11
    • 0033990346 scopus 로고    scopus 로고
    • Rhodopsin trafficking and its role in retinal dystrophies
    • Sung, C.W., Tai A.W. Rhodopsin trafficking and its role in retinal dystrophies. Int Rev Cytol. 195:2000;215-267.
    • (2000) Int Rev Cytol , vol.195 , pp. 215-267
    • Sung, C.W.1    Tai, A.W.2
  • 12
    • 0025849685 scopus 로고
    • Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine
    • Berson E.L., Rosner B., Sandberg M.A., et al. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol. 111:1991;614-623.
    • (1991) Am J Ophthalmol , vol.111 , pp. 614-623
    • Berson, E.L.1    Rosner, B.2    Sandberg, M.A.3
  • 13
    • 0026322870 scopus 로고
    • Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine
    • Berson E.L., Sandberg M.A., Dryja T.P. Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. Trans Am Ophthalmol Soc. 89:1991;117-128.
    • (1991) Trans Am Ophthalmol Soc , vol.89 , pp. 117-128
    • Berson, E.L.1    Sandberg, M.A.2    Dryja, T.P.3
  • 14
    • 0029906304 scopus 로고    scopus 로고
    • Retinitis pigmentosa. unfolding its mystery
    • Berson E.L. Retinitis pigmentosa. unfolding its mystery. Proc Natl Acad Sci U S A. 93:1996;4526-4528.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 4526-4528
    • Berson, E.L.1
  • 15
    • 0032617816 scopus 로고    scopus 로고
    • Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208
    • [online]
    • Bessant D.A., Khaliq S., Hameed A., et al. Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. [online] Hum Mutat. 13:1999;83.
    • (1999) Hum Mutat , vol.13 , pp. 83
    • Bessant, D.A.1    Khaliq, S.2    Hameed, A.3
  • 16
    • 0025990215 scopus 로고
    • Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
    • Dryja T.P., Hahn L.B., Cowley G.S., McGee T.L., Berson E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 88:1991;9370-9374.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 9370-9374
    • Dryja, T.P.1    Hahn, L.B.2    Cowley, G.S.3    McGee, T.L.4    Berson, E.L.5
  • 17
    • 0029088343 scopus 로고
    • Molecular genetics of retinitis pigmentosa
    • Dryja T.P., Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet. 4:(Spec No):1995;1739-1743.
    • (1995) Hum Mol Genet , vol.4 , Issue.SPEC NO , pp. 1739-1743
    • Dryja, T.P.1    Li, T.2
  • 18
    • 0026669047 scopus 로고
    • Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)
    • Fujiki K., Hotta Y., Hayakawa M., et al. Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Jpn J Hum Genet. 37:1992;125-132.
    • (1992) Jpn J Hum Genet , vol.37 , pp. 125-132
    • Fujiki, K.1    Hotta, Y.2    Hayakawa, M.3
  • 19
    • 0026234831 scopus 로고
    • Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa
    • Gal A., Artlich A., Ludwig M., et al. Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics. 11:1991;468-470.
    • (1991) Genomics , vol.11 , pp. 468-470
    • Gal, A.1    Artlich, A.2    Ludwig, M.3
  • 20
    • 0028987831 scopus 로고
    • Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347
    • Macke J.P., Hennessey J.C., Nathans J. Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Hum Mol Genet. 4:1995;775-776.
    • (1995) Hum Mol Genet , vol.4 , pp. 775-776
    • Macke, J.P.1    Hennessey, J.C.2    Nathans, J.3
  • 21
    • 0007460517 scopus 로고
    • Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa
    • Rodriguez JA, Gannon AM, Birch DG, Heckenlively JR, Daiger SP. Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. Am J Hum Genet 1994;(Suppl):A239.
    • (1994) Am J Hum Genet , Issue.SUPPL.
    • Rodriguez, J.A.1    Gannon, A.M.2    Birch, D.G.3    Heckenlively, J.R.4    Daiger, S.P.5
  • 22
    • 0028822820 scopus 로고
    • An updated standard for clinical electroretinography
    • Marmor M.F. An updated standard for clinical electroretinography. Arch Ophthalmol. 113:1995;1375-1376.
    • (1995) Arch Ophthalmol , vol.113 , pp. 1375-1376
    • Marmor, M.F.1
  • 23
    • 0022589162 scopus 로고
    • Computerized quantitative analysis of kinetic visual fields
    • Weleber R.G., Tobler W.R. Computerized quantitative analysis of kinetic visual fields. Am J Ophthalmol. 101:1986;461-468.
    • (1986) Am J Ophthalmol , vol.101 , pp. 461-468
    • Weleber, R.G.1    Tobler, W.R.2
  • 24
    • 0019413127 scopus 로고
    • The effect of age on human cone and rod Ganzfeld electroretinograms
    • Weleber R.G. The effect of age on human cone and rod Ganzfeld electroretinograms. Invest Ophthalmol Vis Sci. 20:1981;392-399.
    • (1981) Invest Ophthalmol Vis Sci , vol.20 , pp. 392-399
    • Weleber, R.G.1
  • 25
    • 0029112804 scopus 로고
    • Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa
    • Sandberg M.A., Weigel-DiFranco C., Dryja T., Berson E.L. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 36:1995;1934-1942.
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , pp. 1934-1942
    • Sandberg, M.A.1    Weigel-DiFranco, C.2    Dryja, T.3    Berson, E.L.4
  • 26
    • 0033504787 scopus 로고    scopus 로고
    • Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy
    • Birch D.G., Anderson J.L., Fish G.E. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology. 106:1999;258-268.
    • (1999) Ophthalmology , vol.106 , pp. 258-268
    • Birch, D.G.1    Anderson, J.L.2    Fish, G.E.3
  • 27
    • 0029741177 scopus 로고    scopus 로고
    • The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa
    • Sandberg M.A., Weigel-DiFranco C., Rosner B., Berson E.L. The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 37:1996;1693-1698.
    • (1996) Invest Ophthalmol Vis Sci , vol.37 , pp. 1693-1698
    • Sandberg, M.A.1    Weigel-DiFranco, C.2    Rosner, B.3    Berson, E.L.4
  • 28
    • 0029991367 scopus 로고    scopus 로고
    • Rates of change differ among measures of visual function in patients with retinitis pigmentosa
    • Holopigian K., Greenstein V., Seiple W., Carr R.E. Rates of change differ among measures of visual function in patients with retinitis pigmentosa. Ophthalmology. 103:1996;398-405.
    • (1996) Ophthalmology , vol.103 , pp. 398-405
    • Holopigian, K.1    Greenstein, V.2    Seiple, W.3    Carr, R.E.4
  • 30
    • 0029157305 scopus 로고
    • Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa
    • Iannaccone A., Rispoli E., Vingolo E.M., et al. Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa. Doc Ophthalmol. 90:1995;129-142.
    • (1995) Doc Ophthalmol , vol.90 , pp. 129-142
    • Iannaccone, A.1    Rispoli, E.2    Vingolo, E.M.3
  • 31
    • 0031965901 scopus 로고    scopus 로고
    • Ribozyme-targeted destruction of RNA associated with autosomal-dominant retinitis pigmentosa
    • Drenser K.A., Timmers A.M., Hauswirth W.W., Lewin A.S. Ribozyme-targeted destruction of RNA associated with autosomal-dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 39:1998;681-689.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 681-689
    • Drenser, K.A.1    Timmers, A.M.2    Hauswirth, W.W.3    Lewin, A.S.4
  • 32
    • 0033862086 scopus 로고    scopus 로고
    • Ribozyme uses in retinal gene therapy
    • Hauswirth W.W., Lewin A.S. Ribozyme uses in retinal gene therapy. Prog Retin Eye Res. 19:2000;689-710.
    • (2000) Prog Retin Eye Res , vol.19 , pp. 689-710
    • Hauswirth, W.W.1    Lewin, A.S.2
  • 34
    • 0033827704 scopus 로고    scopus 로고
    • Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa
    • O'Neill B., Millington-Ward S., O'Reilly M., et al. Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 41:2000;2863-2866.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 2863-2866
    • O'Neill, B.1    Millington-Ward, S.2    O'Reilly, M.3
  • 35
    • 0035789119 scopus 로고    scopus 로고
    • An allele-specific hammerhead ribozyme gene therapy for a porcine model of autosomal dominant retinitis pigmentosa
    • Shaw L.C., Skold A., Wong F., et al. An allele-specific hammerhead ribozyme gene therapy for a porcine model of autosomal dominant retinitis pigmentosa. Mol Vis. 7:2001;6-13.
    • (2001) Mol Vis , vol.7 , pp. 6-13
    • Shaw, L.C.1    Skold, A.2    Wong, F.3
  • 36
    • 0021980329 scopus 로고
    • Isolation of DNA from biological specimens without extraction with phenol
    • Buffone G.J., Darlington G.J. Isolation of DNA from biological specimens without extraction with phenol. Clin Chem. 31:1985;164-165.
    • (1985) Clin Chem , vol.31 , pp. 164-165
    • Buffone, G.J.1    Darlington, G.J.2
  • 37
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA In polyacrylamide gels
    • Bassam B.J., Caetano-Anolles G., Gresshoff P.M. Fast and sensitive silver staining of DNA In polyacrylamide gels. Anal Biochem. 196:1991;80-83.
    • (1991) Anal Biochem , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 39
    • 0042957472 scopus 로고    scopus 로고
    • Retinitis pigmentosa due to dominant rhodopsin mutations: Rates of progression correlate with location of affected amino acid
    • Sandberg M.A., Rosner B., Weigel-DiFranco C., Dryja T.P., Berson E.L. Retinitis pigmentosa due to dominant rhodopsin mutations Rates of progression correlate with location of affected amino acid . Invest Ophthalmol Vis Sci. 43:(Suppl):2002;3949.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , Issue.SUPPL. , pp. 3949
    • Sandberg, M.A.1    Rosner, B.2    Weigel-DiFranco, C.3    Dryja, T.P.4    Berson, E.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.