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Volumn 50, Issue 5, 2006, Pages 403-408

A novel H572R mutation in the transforming growth factor-β-induced gene in a Thai family with lattice corneal dystrophy type I

Author keywords

Genotype phenotype correlation; Lattice corneal dystrophy; Mutation; Transforming growth factor induced gene

Indexed keywords

ARGININE; HISTIDINE; TRANSFORMING GROWTH FACTOR BETA;

EID: 33749341780     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-006-0357-6     Document Type: Article
Times cited : (21)

References (18)
  • 1
    • 0347581233 scopus 로고    scopus 로고
    • The molecular genetics of the corneal dystrophies-current status
    • GK Klintworth 2003 The molecular genetics of the corneal dystrophies-current status Front Biosci 8 d687 713
    • (2003) Front Biosci , vol.8 , pp. 687-713
    • Klintworth, G.K.1
  • 3
    • 0033498186 scopus 로고    scopus 로고
    • A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
    • H Stewart GC Black D Donnai 1999 A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy Ophthalmology 106 964 970
    • (1999) Ophthalmology , vol.106 , pp. 964-970
    • Stewart, H.1    Black, G.C.2    Donnai, D.3
  • 4
    • 0034016051 scopus 로고    scopus 로고
    • BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies
    • CF Schmitt-Bernard C Guittard B Arnaud 2000 BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies Invest Ophthalmol Vis Sci 41 1302 1308
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1302-1308
    • Schmitt-Bernard, C.F.1    Guittard, C.2    Arnaud, B.3
  • 5
    • 0033804222 scopus 로고    scopus 로고
    • Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
    • Y Mashima S Yamamoto Y Inoue 2000 Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan Am J Ophthalmol 130 516 517
    • (2000) Am J Ophthalmol , vol.130 , pp. 516-517
    • Mashima, Y.1    Yamamoto, S.2    Inoue, Y.3
  • 6
    • 0035139506 scopus 로고    scopus 로고
    • Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes
    • NA Afshari JE Mullally MA Afshari 2001 Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes Arch Ophthalmol 119 16 22
    • (2001) Arch Ophthalmol , vol.119 , pp. 16-22
    • Afshari, N.A.1    Mullally, J.E.2    Afshari, M.A.3
  • 7
    • 0038356459 scopus 로고    scopus 로고
    • H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
    • HM Chau NT Ha LX Cung 2003 H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people Br J Ophthalmol 87 686 689
    • (2003) Br J Ophthalmol , vol.87 , pp. 686-689
    • Chau, H.M.1    Ha, N.T.2    Cung, L.X.3
  • 8
  • 9
    • 2442650583 scopus 로고    scopus 로고
    • Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
    • GK Klintworth W Bao NA Afshari 2004 Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family Invest Ophthalmol Vis Sci 45 1382 1388
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1382-1388
    • Klintworth, G.K.1    Bao, W.2    Afshari, N.A.3
  • 11
    • 0344242012 scopus 로고    scopus 로고
    • Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I
    • S Endo TH Nguyen K Fujiki 1999 Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I Am J Ophthalmol 128 104 106
    • (1999) Am J Ophthalmol , vol.128 , pp. 104-106
    • Endo, S.1    Nguyen, T.H.2    Fujiki, K.3
  • 12
    • 0041328581 scopus 로고    scopus 로고
    • Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein
    • JW Ferguson MF Mikesh EF Wheeler RG LeBaron 2003 Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein Mech Dev 120 851 864
    • (2003) Mech Dev , vol.120 , pp. 851-864
    • Ferguson, J.W.1    Mikesh, M.F.2    Wheeler, E.F.3    Lebaron, R.G.4
  • 14
    • 0034037003 scopus 로고    scopus 로고
    • The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy
    • 3 Suppl
    • S Yamamoto M Okada M Tsujikawa 2000 The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy Cornea 19 3 Suppl S21 23
    • (2000) Cornea , vol.19 , pp. 21-23
    • Yamamoto, S.1    Okada, M.2    Tsujikawa, M.3
  • 15
    • 0033768208 scopus 로고    scopus 로고
    • Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
    • K Fujiki Y Hotta K Nakayasu 2000 Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies Cornea 19 842 845
    • (2000) Cornea , vol.19 , pp. 842-845
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3
  • 16
    • 0346670134 scopus 로고    scopus 로고
    • A model of FAS1 domain 4 of the corneal protein βig-h3 gives a clearer view on corneal dystrophies
    • NJ Clout E Hohenester 2003 A model of FAS1 domain 4 of the corneal protein βig-h3 gives a clearer view on corneal dystrophies Mol Vis 9 440 448
    • (2003) Mol Vis , vol.9 , pp. 440-448
    • Clout, N.J.1    Hohenester, E.2
  • 17
    • 0037195797 scopus 로고    scopus 로고
    • Identification of motifs in the fasciclin domains of the transforming growth factor-beta-induced matrix protein betaig-h3 that interact with the alphavbeta5 integrin
    • JE Kim HW Jeong JO Nam 2002 Identification of motifs in the fasciclin domains of the transforming growth factor-beta-induced matrix protein betaig-h3 that interact with the alphavbeta5 integrin J Biol Chem 277 46159 46165
    • (2002) J Biol Chem , vol.277 , pp. 46159-46165
    • Kim, J.E.1    Jeong, H.W.2    Nam, J.O.3
  • 18
    • 0037317272 scopus 로고    scopus 로고
    • Novel fold revealed by the structure of a FAS1 domain pair from the insect cell adhesion molecule fasciclin I
    • NJ Clout D Tisi E Hohenester 2003 Novel fold revealed by the structure of a FAS1 domain pair from the insect cell adhesion molecule fasciclin I Structure (Camb) 11 197 203
    • (2003) Structure (Camb) , vol.11 , pp. 197-203
    • Clout, N.J.1    Tisi, D.2    Hohenester, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.