메뉴 건너뛰기




Volumn 39, Issue 12, 1998, Pages 2288-2295

Gln368STOP myocilin mutation in families with late-onset primary open- angle glaucoma

Author keywords

[No Author keywords available]

Indexed keywords

EYE PROTEIN; MYOSIN;

EID: 17144439117     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (108)

References (24)
  • 2
    • 85040956555 scopus 로고
    • New York: Oxford University Press
    • The International Bank for Reconstruction and Development. The World Bank. World Development Report 1993: Investing in Health. New York: Oxford University Press, 1993.
    • (1993) World Development Report 1993: Investing in Health
  • 3
    • 0025122263 scopus 로고
    • Blindness and visual impairment in an American urban population. The Baltimore Eye Survey
    • Tielsch JM, Sommer A, Witt K, Katz J, Royall RM. Blindness and visual impairment in an American urban population. The Baltimore Eye Survey (see comments). Arch Ophthalmol. 1990;108:286-290.
    • (1990) Arch Ophthalmol , vol.108 , pp. 286-290
    • Tielsch, J.M.1    Sommer, A.2    Witt, K.3    Katz, J.4    Royall, R.M.5
  • 4
    • 0026409550 scopus 로고
    • Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans: The Baltimore Eye Survey
    • Sommer A, Tielsch JM, Katz J, et al. Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans: the Baltimore Eye Survey. Arch Ophthalmol. 1991;109:1090-1095.
    • (1991) Arch Ophthalmol , vol.109 , pp. 1090-1095
    • Sommer, A.1    Tielsch, J.M.2    Katz, J.3
  • 5
    • 0027173920 scopus 로고
    • Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31
    • Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993;4:47-50.
    • (1993) Nat Genet , vol.4 , pp. 47-50
    • Sheffield, V.C.1    Stone, E.M.2    Alward, W.L.3
  • 6
    • 0027972492 scopus 로고
    • Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q
    • Richards JE, Lichter PR, et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet. 1994;54:62-70.
    • (1994) Am J Hum Genet , vol.54 , pp. 62-70
    • Richards, J.E.1    Lichter, P.R.2
  • 7
    • 0028332417 scopus 로고
    • Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees
    • Wiggs JL, Haines JL, Paglinauan C, Fine A, Sporn C, Lou D. Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics. 1994;21:299-303.
    • (1994) Genomics , vol.21 , pp. 299-303
    • Wiggs, J.L.1    Haines, J.L.2    Paglinauan, C.3    Fine, A.4    Sporn, C.5    Lou, D.6
  • 8
    • 0002935093 scopus 로고
    • Glucocorticoid (GC) effects on HTM cells: Molecular biology approaches
    • Lutjen-Drecoll E, ed. New York: Shattauer
    • Nguyen TD, Huang W, Bloom E, Polansky JR. Glucocorticoid (GC) effects on HTM cells: molecular biology approaches. In: Lutjen-Drecoll E, ed. Basic Aspects of Glaucoma Research III. New York: Shattauer, 1993.
    • (1993) Basic Aspects of Glaucoma Research III
    • Nguyen, T.D.1    Huang, W.2    Bloom, E.3    Polansky, J.R.4
  • 9
    • 17644433309 scopus 로고    scopus 로고
    • Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product
    • Polansky JR, Fauss DJ, Chen P, et al. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica. 1997;211:126-139.
    • (1997) Ophthalmologica , vol.211 , pp. 126-139
    • Polansky, J.R.1    Fauss, D.J.2    Chen, P.3
  • 10
    • 0031149050 scopus 로고    scopus 로고
    • A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
    • Kubota R, Noda S, Wang Y, et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997;41:360-369.
    • (1997) Genomics , vol.41 , pp. 360-369
    • Kubota, R.1    Noda, S.2    Wang, Y.3
  • 11
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene that causes primary open angle glaucoma
    • Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.M.3
  • 12
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 1989;86:2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 13
    • 0030793108 scopus 로고    scopus 로고
    • Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin
    • Ortego J, Escribano J, Coca-Prados M. Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Lett. 1997;413: 349-353.
    • (1997) FEBS Lett , vol.413 , pp. 349-353
    • Ortego, J.1    Escribano, J.2    Coca-Prados, M.3
  • 15
    • 9844252339 scopus 로고    scopus 로고
    • Recurrent mutations in a single exon encoding the evolutionary conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
    • Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionary conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-2097.
    • (1997) Hum Mol Genet , vol.6 , pp. 2091-2097
    • Adam, M.F.1    Belmouden, A.2    Binisti, P.3
  • 17
    • 0028085611 scopus 로고
    • Detection of p53 mutations in hematological malignancies: Comparison between immunocytochemistry and DNA analysis
    • Preudhomme C, Vanrumbeke M, Quesnel B, Cosson A, Fenaux P. Detection of p53 mutations in hematological malignancies: comparison between immunocytochemistry and DNA analysis. Leukemia. 1994;8:1342-1349.
    • (1994) Leukemia , vol.8 , pp. 1342-1349
    • Preudhomme, C.1    Vanrumbeke, M.2    Quesnel, B.3    Cosson, A.4    Fenaux, P.5
  • 18
  • 19
    • 0029928419 scopus 로고    scopus 로고
    • Amino acid residues affecting the activity and stability of human 06-alkylguanine-DNA alkyltransferase
    • Crone TM, Goodtzova K, Peg AE. Amino acid residues affecting the activity and stability of human 06-alkylguanine-DNA alkyltransferase. Mutat Res. 1996;15:15-25.
    • (1996) Mutat Res , vol.15 , pp. 15-25
    • Crone, T.M.1    Goodtzova, K.2    Peg, A.E.3
  • 20
    • 0013922394 scopus 로고
    • Dexamethasone ocular hypertension in the clinically normal eye, II: The untreated eye, outflow facility, and concentration
    • Armaly MF. Dexamethasone ocular hypertension in the clinically normal eye, II: The untreated eye, outflow facility, and concentration. Arch Ophthalmol. 1966;75:776-782.
    • (1966) Arch Ophthalmol , vol.75 , pp. 776-782
    • Armaly, M.F.1
  • 21
    • 0013861263 scopus 로고
    • The heritable nature of dexamethasone-induced ocular hypertension
    • Armaly MF. The heritable nature of dexamethasone-induced ocular hypertension. Arch Ophthalmol. 1966;75:32-35.
    • (1966) Arch Ophthalmol , vol.75 , pp. 32-35
    • Armaly, M.F.1
  • 22
    • 0013998380 scopus 로고
    • Topical corticosteroid testing in conditions related to glaucoma
    • Becker B, Kolker AE. Topical corticosteroid testing in conditions related to glaucoma. Int Ophthalmol Clin. 1966;6:1005-1015.
    • (1966) Int Ophthalmol Clin , vol.6 , pp. 1005-1015
    • Becker, B.1    Kolker, A.E.2
  • 23
    • 0029102995 scopus 로고
    • Steroids, ocular hypertension, and glaucoma
    • Clark AF. Steroids, ocular hypertension, and glaucoma. J Glaucoma. 1995;4:354-369.
    • (1995) J Glaucoma , vol.4 , pp. 354-369
    • Clark, A.F.1
  • 24
    • 0029003117 scopus 로고
    • A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q
    • Morissette J, Cote G, Anctil JL, et al. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q (see comments). Am J Hum Genet. 1995;56:1431-1442.
    • (1995) Am J Hum Genet , vol.56 , pp. 1431-1442
    • Morissette, J.1    Cote, G.2    Anctil, J.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.