메뉴 건너뛰기




Volumn 111, Issue 6, 2004, Pages 1108-1114

Polymorphic corneal amyloidosis: A disorder due to a novel mutation in the Transforming Growth Factor β-Induced (BIGH3) gene

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMYLOID; ASPARTIC ACID; DNA; TRANSFORMING GROWTH FACTOR BETA;

EID: 2942577626     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2003.09.043     Document Type: Article
Times cited : (46)

References (19)
  • 1
    • 0347581233 scopus 로고    scopus 로고
    • The molecular genetics of the corneal dystrophies - Current status
    • Klintworth G.K. The molecular genetics of the corneal dystrophies - current status. Front Biosci. 8:2003;d687-713
    • (2003) Front Biosci , vol.8 , pp. 687-713
    • Klintworth, G.K.1
  • 3
    • 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 N.A., Mullally J.E., Afshari M.A., et al. Survey of patients with granular, lattice, Avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol. 119:2001;16-22
    • (2001) Arch Ophthalmol , vol.119 , pp. 16-22
    • Afshari, N.A.1    Mullally, J.E.2    Afshari, M.A.3
  • 4
    • 0031020733 scopus 로고    scopus 로고
    • Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
    • Munier F.L., Korvatska E., Djemai A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251
    • (1997) Nat Genet , vol.15 , pp. 247-251
    • Munier, F.L.1    Korvatska, E.2    Djemai, A.3
  • 6
    • 2942555146 scopus 로고
    • Zur Frage der familiären Hornhautentartung: Ueber eine eigenartige tiefe schollige und periphere gitterförmige familäre Hornhautdystrophie
    • Pillat A. Zur Frage der familiären Hornhautentartung Ueber eine eigenartige tiefe schollige und periphere gitterförmige familäre Hornhautdystrophie. Klin Monatsbl Augenheilkd. 104:1940;571-588
    • (1940) Klin Monatsbl Augenheilkd , vol.104 , pp. 571-588
    • Pillat, A.1
  • 7
    • 0016756965 scopus 로고
    • Polymorphic stromal dystrophy
    • Thomsitt J., Bron A.J. Polymorphic stromal dystrophy. Br J Ophthalmol. 59:1975;125-132
    • (1975) Br J Ophthalmol , vol.59 , pp. 125-132
    • Thomsitt, J.1    Bron, A.J.2
  • 8
    • 0019424503 scopus 로고
    • Polymorphic amyloid degeneration of the cornea. A clinical and histopathologic study
    • Mannis M.J., Krachmer J.H., Rodrigues M.M., Pardos G.J. Polymorphic amyloid degeneration of the cornea. A clinical and histopathologic study. Arch Ophthalmol. 99:1981;1217-1223
    • (1981) Arch Ophthalmol , vol.99 , pp. 1217-1223
    • Mannis, M.J.1    Krachmer, J.H.2    Rodrigues, M.M.3    Pardos, G.J.4
  • 9
    • 0020693909 scopus 로고
    • Corneal posterior crocodile shagreen and polymorphic amyloid degeneration
    • Krachmer J.H., Dubord P.J., Rodrigues M.M., Mannis M.J. Corneal posterior crocodile shagreen and polymorphic amyloid degeneration. Arch Ophthalmol. 101:1983;54-59
    • (1983) Arch Ophthalmol , vol.101 , pp. 54-59
    • Krachmer, J.H.1    Dubord, P.J.2    Rodrigues, M.M.3    Mannis, M.J.4
  • 10
    • 0031889587 scopus 로고    scopus 로고
    • Accumulation of beta ig-h3 gene product in corneas with granular dystrophy
    • Klintworth G.K., Valnickova Z., Enghild J.J. Accumulation of beta ig-h3 gene product in corneas with granular dystrophy. Am J Pathol. 152:1998;743-748
    • (1998) Am J Pathol , vol.152 , pp. 743-748
    • Klintworth, G.K.1    Valnickova, Z.2    Enghild, J.J.3
  • 11
    • 0032902822 scopus 로고    scopus 로고
    • Localization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas
    • Streeten B.W., Qi Y., Klintworth G.K., et al. Localization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas. Arch Ophthalmol. 117:1999;67-75
    • (1999) Arch Ophthalmol , vol.117 , pp. 67-75
    • Streeten, B.W.1    Qi, Y.2    Klintworth, G.K.3
  • 12
    • 0141941262 scopus 로고    scopus 로고
    • Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bücklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gels
    • Hedegaard C.J., Thøgersen I.D., Enghild J.J., et al. Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bücklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gels. Mol Vis. 9:2003;355-359
    • (2003) Mol Vis , vol.9 , pp. 355-359
    • Hedegaard, C.J.1    Thøgersen, I.D.2    Enghild, J.J.3
  • 13
    • 0033983763 scopus 로고    scopus 로고
    • A new mutation (A546T) of the beta ig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
    • Dighiero P., Drunat S., Ellies P., et al. A new mutation (A546T) of the beta ig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol. 129:2000;248-251
    • (2000) Am J Ophthalmol , vol.129 , pp. 248-251
    • Dighiero, P.1    Drunat, S.2    Ellies, P.3
  • 14
    • 0039409683 scopus 로고    scopus 로고
    • Protein structure and function
    • J.M. Berg, J.L. Tymoczko, & L. Stryer. San Francisco: W.H. Freeman
    • Stryer L. Protein structure and function. Berg J.M., Tymoczko J.L., Stryer L. Biochemistry. 5th ed:2002;41-74 W.H. Freeman, San Francisco
    • (2002) Biochemistry 5th Ed , pp. 41-74
    • Stryer, L.1
  • 15
    • 0034016051 scopus 로고    scopus 로고
    • BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies
    • Schmitt-Bernard C.F., Guittard C., Arnaud B., et al. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. Invest Ophthalmol Vis Sci. 41:2000;1302-1308
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1302-1308
    • Schmitt-Bernard, C.F.1    Guittard, C.2    Arnaud, B.3
  • 16
    • 0034759216 scopus 로고    scopus 로고
    • BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy
    • Kim H.S., Yoon S.K., Cho B.J., et al. BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. Cornea. 20:2001;844-849
    • (2001) Cornea , vol.20 , pp. 844-849
    • Kim, H.S.1    Yoon, S.K.2    Cho, B.J.3
  • 17
    • 17344365347 scopus 로고    scopus 로고
    • Mutation hot spots in 5q31-linked corneal dystrophies
    • Korvatska E., Munier F.L., Djemai A., et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 62:1998;320-324
    • (1998) Am J Hum Genet , vol.62 , pp. 320-324
    • Korvatska, E.1    Munier, F.L.2    Djemai, A.3
  • 18
    • 0031609610 scopus 로고    scopus 로고
    • Novel polymorphisms in the beta ig-h3 gene
    • Tsujikawa M., Shimomura Y., Okada M., et al. Novel polymorphisms in the beta ig-h3 gene. J Hum Genet. 43:1998;214-215
    • (1998) J Hum Genet , vol.43 , pp. 214-215
    • Tsujikawa, M.1    Shimomura, Y.2    Okada, M.3
  • 19
    • 0037111005 scopus 로고    scopus 로고
    • Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
    • Tsujikawa K., Tsujikawa M., Yamamoto S., et al. Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. Am J Med Genet. 113:2002;20-22
    • (2002) Am J Med Genet , vol.113 , pp. 20-22
    • Tsujikawa, K.1    Tsujikawa, M.2    Yamamoto, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.