메뉴 건너뛰기




Volumn 25, Issue 12, 2007, Pages 986-988

Progress in the study of molecular genetics of BIGH3 related corneal dystrophy

Author keywords

BIGH3 gene; Corneal dystrophy; Molecular genetics

Indexed keywords

EYE PROTEIN; PROTEIN BIGH3; UNCLASSIFIED DRUG;

EID: 38049001519     PISSN: 10030808     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (23)
  • 1
    • 0031020733 scopus 로고    scopus 로고
    • Kerato-epithelin mutations in four 5q31-linked corneal dystrophies[J]
    • Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies[J]. Nat Genet,1997,15:247-251
    • (1997) Nat Genet , vol.15 , pp. 247-251
    • Munier, F.L.1    Korvatska, E.2    Djemai, A.3
  • 3
    • 0032189294 scopus 로고    scopus 로고
    • Two distinct kerato-epithelin mutations in Reis-B cklers corneal dystrophy[J]
    • Okada M, Yamamoto S, Tsujikawa M, et al. Two distinct kerato-epithelin mutations in Reis-B cklers corneal dystrophy[J]. Am J Ophthalmol, 1998,126:535-542
    • (1998) Am J Ophthalmol , vol.126 , pp. 535-542
    • Okada, M.1    Yamamoto, S.2    Tsujikawa, M.3
  • 4
    • 17744411573 scopus 로고    scopus 로고
    • A kerato-epithelin (big-h3) mutation in lattice corneal dystrophy type IIIA[J]
    • Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (big-h3) mutation in lattice corneal dystrophy type IIIA[J]. Am J Hum Genet. 1998,62:719-722
    • (1998) Am J Hum Genet , vol.62 , pp. 719-722
    • Yamamoto, S.1    Okada, M.2    Tsujikawa, M.3
  • 5
    • 0031682083 scopus 로고    scopus 로고
    • A new L527R mutation of the BIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities[J]
    • Fujiki K, Hotta Y, Takayasu K, et al. A new L527R mutation of the BIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities[J]. Hum Genet,1998,103:286-289
    • (1998) Hum Genet , vol.103 , pp. 286-289
    • Fujiki, K.1    Hotta, Y.2    Takayasu, K.3
  • 6
    • 0033983763 scopus 로고    scopus 로고
    • A new mutation (A546T) of the big-h3 gene responsible for a French lattice corneal dystrophy type IIIA[J]
    • Dighiero P, Drunat S, Ellies P, et al. A new mutation (A546T) of the big-h3 gene responsible for a French lattice corneal dystrophy type IIIA[J]. Am J Ophthalmol,2000,129:248-251
    • (2000) Am J Ophthalmol , vol.129 , pp. 248-251
    • Dighiero, P.1    Drunat, S.2    Ellies, P.3
  • 7
    • 2442650583 scopus 로고    scopus 로고
    • Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family[J]
    • Klintworth GK, Bao WJ, Afshari NA. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family[J]. Invest Ophthalmol Vis Sci,2004,45:1382-1388
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1382-1388
    • Klintworth, G.K.1    Bao, W.J.2    Afshari, N.A.3
  • 8
    • 17344365347 scopus 로고    scopus 로고
    • Mutation hot spots in 5q31. 1 linked corneal dystrophies[J]
    • Korvatska E, Munier FL, Djemai A, et al. Mutation hot spots in 5q31. 1 linked corneal dystrophies[J]. 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    Djemai, A.3
  • 9
    • 0036431646 scopus 로고    scopus 로고
    • BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro implications in the BIGH3-linked corneal dystrophies[J]
    • Schmitt-Bernard CF, Chavanieu A, Herrada G, et al. BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro implications in the BIGH3-linked corneal dystrophies[J]. Eur J Biochem,2002,269:5149-5156
    • (2002) Eur J Biochem , vol.269 , pp. 5149-5156
    • Schmitt-Bernard, C.F.1    Chavanieu, A.2    Herrada, G.3
  • 10
    • 0034024615 scopus 로고    scopus 로고
    • A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis[J]
    • Kim JE, Kim EH, Han EH, et al. A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis[J]. J Cell Biochem,2000,77:169-178
    • (2000) J Cell Biochem , vol.77 , pp. 169-178
    • Kim, J.E.1    Kim, E.H.2    Han, E.H.3
  • 11
    • 0031726475 scopus 로고    scopus 로고
    • Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients[J]
    • Mashima Y, Konishi M, Nakamura Y, et al. Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients[J]. Br J Ophthalmol, 1998,82:12802-12804
    • (1998) Br J Ophthalmol , vol.82 , pp. 12802-12804
    • Mashima, Y.1    Konishi, M.2    Nakamura, Y.3
  • 12
    • 38049006748 scopus 로고    scopus 로고
    • Chinese source
    • Chinese source
  • 13
    • 11144289980 scopus 로고    scopus 로고
    • TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients[J]
    • Chakravarthi SVVK, Kannabiran C, Sridhar MS, et al. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients[J]. Invest Ophthalmol Vis Sci,2005,46:121-125
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 121-125
    • Chakravarthi, S.V.V.K.1    Kannabiran, C.2    Sridhar, M.S.3
  • 14
    • 0036184212 scopus 로고    scopus 로고
    • Molecular properties of wild-type and mutant BIC-H3 proteins[J]
    • Kim JE, Park RW, Choi JY, et al. Molecular properties of wild-type and mutant BIC-H3 proteins[J]. Invest Ophthalmol Vis Sci,2002,43: 656-661
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 656-661
    • Kim, J.E.1    Park, R.W.2    Choi, J.Y.3
  • 15
    • 0034646599 scopus 로고    scopus 로고
    • Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein[J]
    • Korvatska E, Henry H, Mashima Y, et al. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein[J]. J Biol Chem,2000,15:11465-11469
    • (2000) J Biol Chem , vol.15 , pp. 11465-11469
    • Korvatska, E.1    Henry, H.2    Mashima, Y.3
  • 16
    • 0347581233 scopus 로고    scopus 로고
    • Tile molecular genetics of the corneal dystrophies : Current status[J]
    • Klintworth GK. Tile molecular genetics of the corneal dystrophies : current status[J]. Front Biol Sci,2003,8:687-713
    • (2003) Front Biol Sci , vol.8 , pp. 687-713
    • Klintworth, G.K.1
  • 17
    • 0037417135 scopus 로고    scopus 로고
    • RGD peptides released from big-h3, a TGF-b-induced cell-adhesive molecule mediate apoptosis[J]
    • Kim JE, Kim SJ, Jeong HW, et al. RGD peptides released from big-h3, a TGF-b-induced cell-adhesive molecule mediate apoptosis[J]. Oncogene, 2003,22:2045-2053
    • (2003) Oncogene , vol.22 , pp. 2045-2053
    • Kim, J.E.1    Kim, S.J.2    Jeong, H.W.3
  • 18
    • 0037900705 scopus 로고    scopus 로고
    • Induction of apoptosis in human corneal and hela cells by mutated BIGH3[J]
    • Morand S, Buchillier V, Maurer F, et al. Induction of apoptosis in human corneal and hela cells by mutated BIGH3[J]. Invest Ophthalmol Vis Sci, 2003,44:2973-2979
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 2973-2979
    • Morand, S.1    Buchillier, V.2    Maurer, F.3
  • 19
    • 0034613378 scopus 로고    scopus 로고
    • Identification of motifs for cell adhesion within the repeated domains of transforming growth factor -beta-induced gene, beta ig-h3[J]
    • Kim JE, Kim SJ, Lee BH, et al. Identification of motifs for cell adhesion within the repeated domains of transforming growth factor -beta-induced gene, beta ig-h3[J]. J Biol Chem,2000,275:30907-30915
    • (2000) J Biol Chem , vol.275 , pp. 30907-30915
    • Kim, J.E.1    Kim, S.J.2    Lee, B.H.3
  • 20
    • 0037008750 scopus 로고    scopus 로고
    • The TGFbeta-inducible matrix protein betaig-h3 interacts with fibronectin[J]
    • Billings PC, Whitbeck JC, Admas CS, et al. The TGFbeta-inducible matrix protein betaig-h3 interacts with fibronectin[J]. J Biol Chem, 2002,277:28003-28009
    • (2002) J Biol Chem , vol.277 , pp. 28003-28009
    • Billings, P.C.1    Whitbeck, J.C.2    Admas, C.S.3
  • 21
    • 0041328581 scopus 로고    scopus 로고
    • Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein[J]
    • Ferguson JW, Mikesh MF, Wheeler EF, et al. Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein[J]. Mech Dev,2003,120:851-864
    • (2003) Mech Dev , vol.120 , pp. 851-864
    • Ferguson, J.W.1    Mikesh, M.F.2    Wheeler, E.F.3
  • 22
    • 38049093220 scopus 로고    scopus 로고
    • Chinese source
    • Chinese source
  • 23
    • 33646560354 scopus 로고    scopus 로고
    • Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy[J]
    • Kochairi IE, Letovanec I, Uffer S, et al. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy[J]. Mol Vis,2006,12:461-466
    • (2006) Mol Vis , vol.12 , pp. 461-466
    • Kochairi, I.E.1    Letovanec, I.2    Uffer, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.