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Volumn 48, Issue 1, 2004, Pages 12-16

Mutation Analysis of the TGFBI Gene in Vietnamese with Granular and Avellino Corneal Dystrophy

Author keywords

Avellino corneal dystrophy; Granular corneal dystrophy; Mutational analysis; Transforming growth factor induced gene; Vietnamese population

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA;

EID: 0842321896     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-003-0009-z     Document Type: Article
Times cited : (12)

References (19)
  • 1
    • 0010254176 scopus 로고
    • Knötchenförmige Hornhauttrübungen (Noduli corneae)
    • Groenouw A. Knötchenförmige Hornhauttrübungen (Noduli corneae). Arch Augenheilkd 1890;21:281-289.
    • (1890) Arch Augenheilkd , vol.21 , pp. 281-289
    • Groenouw, A.1
  • 2
    • 0024850313 scopus 로고
    • Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopic appearance and symptomatology
    • Moller, HU. Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopic appearance and symptomatology. Acta Ophthalmol 1989;67:669-677.
    • (1989) Acta Ophthalmol , vol.67 , pp. 669-677
    • Moller, H.U.1
  • 3
    • 0023933280 scopus 로고
    • Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: A study of three families
    • Folberg R, Alfonso E, Croxatto JO, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: a study of three families. Ophthalmology 1988;95:46-51.
    • (1988) Ophthalmology , vol.95 , pp. 46-51
    • Folberg, R.1    Alfonso, E.2    Croxatto, J.O.3
  • 4
    • 0026672931 scopus 로고
    • Avellino corneal dystrophy: Clinical manifestations and natural history
    • Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy: clinical manifestations and natural history. Ophthalmology 1992;99:1564-1568.
    • (1992) Ophthalmology , vol.99 , pp. 1564-1568
    • Holland, E.J.1    Daya, S.M.2    Stone, E.M.3
  • 5
    • 0026783009 scopus 로고
    • cDNA cloning and sequence analysis of BIGH3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β
    • Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. cDNA cloning and sequence analysis of BIGH3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β. DNA Cell Biol 1992;11:511-522.
    • (1992) DNA Cell Biol , vol.11 , pp. 511-522
    • Skonier, J.1    Neubauer, M.2    Madisen, L.3    Bennett, K.4    Plowman, G.D.5    Purchio, A.F.6
  • 6
    • 0031020733 scopus 로고    scopus 로고
    • Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
    • Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-251.
    • (1997) Nat Genet , vol.15 , pp. 247-251
    • Munier, F.L.1    Korvatska, E.2    Djemai, A.3
  • 7
    • 17344365347 scopus 로고    scopus 로고
    • Mutation hot spots in 5q31-linked corneal dystrophies
    • Korvatska E, Munier FL, Djiemai A, et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 1998;62:320-324.
    • (1998) Am J Hum Genet , vol.62 , pp. 320-324
    • Korvatska, E.1    Munier, F.L.2    Djiemai, A.3
  • 8
    • 0033768208 scopus 로고    scopus 로고
    • Six different mutations of TGFBI (BIGH3, keratoepithelin) gene found in Japanese corneal dystrophies
    • Fujiki K, Hotta Y, Nakayasu K, et al. Six different mutations of TGFBI (BIGH3, keratoepithelin) gene found in Japanese corneal dystrophies. Cornea 2000;19:842-845.
    • (2000) Cornea , vol.19 , pp. 842-845
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3
  • 9
    • 0007959648 scopus 로고    scopus 로고
    • The mutational status of keratoepithelin in 26 French families with corneal dystrophies (ARVO abstract 1760)
    • Mousala M, Dighiero P, Drunat S, Ellies P, Legeais J-M, Renard G. The mutational status of keratoepithelin in 26 French families with corneal dystrophies (ARVO abstract 1760). Invest Ophthalmol Vis Sci 1999;40(Suppl):S332.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , Issue.SUPPL.
    • Mousala, M.1    Dighiero, P.2    Drunat, S.3    Ellies, P.4    Legeais, J.-M.5    Renard, G.6
  • 10
    • 0035139506 scopus 로고    scopus 로고
    • Survey of patients with granular, lattice, Avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and Gelsolin genes
    • Afshari NA, Mullally JE, Afshari MA, et al. Survey of patients with granular, lattice, Avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and Gelsolin genes. Arch Ophthalmol 2001;119:16-22.
    • (2001) Arch Ophthalmol , vol.119 , pp. 16-22
    • Afshari, N.A.1    Mullally, J.E.2    Afshari, M.A.3
  • 11
    • 0034759216 scopus 로고    scopus 로고
    • BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy
    • Kim HS, Yoon SK, Cho BJ, Kim EK, Joo CK. BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. Cornea 2001;20:844-849.
    • (2001) Cornea , vol.20 , pp. 844-849
    • Kim, H.S.1    Yoon, S.K.2    Cho, B.J.3    Kim, E.K.4    Joo, C.K.5
  • 13
    • 0038777119 scopus 로고    scopus 로고
    • A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy
    • Ha NT, Cung LX, Chau HM, et al. A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy. Jpn J Ophthalmol 2003;47:246-248.
    • (2003) Jpn J Ophthalmol , vol.47 , pp. 246-248
    • Ha, N.T.1    Cung, L.X.2    Chau, H.M.3
  • 14
    • 0017148259 scopus 로고
    • A general method for isolation of high molecular weight DNA from eukaryotes
    • Blin N, Stafford DW. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 1976;3:2303-2308.
    • (1976) Nucleic Acids Res , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.W.2
  • 16
    • 0023047540 scopus 로고
    • Fluorescence detection in automated DNA sequence analysis
    • Smith LM, Sanders JZ, Kaiser RJ, et al. Fluorescence detection in automated DNA sequence analysis. Nature 1986;321:674-679.
    • (1986) Nature , vol.321 , pp. 674-679
    • Smith, L.M.1    Sanders, J.Z.2    Kaiser, R.J.3
  • 17
    • 0032169435 scopus 로고    scopus 로고
    • The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients
    • Konishi M, Mashima Y, Yamada M, Kudo J, Shimizu N. The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. Am J Ophthalmol 1998;126:450-452.
    • (1998) Am J Ophthalmol , vol.126 , pp. 450-452
    • Konishi, M.1    Mashima, Y.2    Yamada, M.3    Kudo, J.4    Shimizu, N.5
  • 18
    • 0027371142 scopus 로고
    • Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy
    • Rosenwasser GO, Sucheski BM, Rosa N, et al. Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol 1993;111:1546-1552.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1546-1552
    • Rosenwasser, G.O.1    Sucheski, B.M.2    Rosa, N.3
  • 19
    • 0034901080 scopus 로고    scopus 로고
    • Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation
    • Watanabe H, Hashida Y, Tsujikawa K, et al. Two patterns of opacity in corneal dystrophy caused by the homozygous BIG-H3 R124H mutation. Am J Ophthalmol 2001;132:211-216.
    • (2001) Am J Ophthalmol , vol.132 , pp. 211-216
    • Watanabe, H.1    Hashida, Y.2    Tsujikawa, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.