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Volumn 95, Issue 2, 1995, Pages 874-880

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

EID: 0028831359     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/jci117737     Document Type: Article
Times cited : (79)

References (29)
  • 2
    • 0018393854 scopus 로고
    • The Marfan syndrome: Diagnosis and management
    • Pyeritz, R. E., and V. A. McKusick. 1979. The Marfan syndrome: diagnosis and management. N. Engl. J. Med. 300:772-777.
    • (1979) N. Engl. J. Med. , vol.300 , pp. 772-777
    • Pyeritz, R.E.1    McKusick, V.A.2
  • 3
    • 0001928531 scopus 로고
    • Marfan syndrome
    • A. E. H. Emery and D. L. Rimoin, editors. Churchill-Livingstone, Inc., New York
    • Pyeritz, R. E. 1990. Marfan syndrome. In Principles and Practice of Medical Genetics. Second edition. A. E. H. Emery and D. L. Rimoin, editors. Churchill-Livingstone, Inc., New York. 1047-1063.
    • (1990) Principles and Practice of Medical Genetics. Second Edition , pp. 1047-1063
    • Pyeritz, R.E.1
  • 7
    • 0023002893 scopus 로고
    • Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
    • Sakai, L. Y., D. R. Keene, and E. Engvall. 1986. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 103:2499-2509.
    • (1986) J. Cell Biol. , vol.103 , pp. 2499-2509
    • Sakai, L.Y.1    Keene, D.R.2    Engvall, E.3
  • 8
    • 0026315446 scopus 로고
    • Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils
    • Sakai, L. Y., D. R. Keene, R. W. Glanville, and H. P. Bachinger. 1991. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J. Biol. Chem. 266:14763-14770.
    • (1991) J. Biol. Chem. , vol.266 , pp. 14763-14770
    • Sakai, L.Y.1    Keene, D.R.2    Glanville, R.W.3    Bachinger, H.P.4
  • 10
    • 0027257818 scopus 로고
    • Fibrillin binds calcium and is encoded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end
    • Corson, G. M., S. C. Chalberg, H. C. Dietz, N. L. Charbonneau, and L. Y. Sakai. 1993. Fibrillin binds calcium and is encoded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics. 17:476-484.
    • (1993) Genomics , vol.17 , pp. 476-484
    • Corson, G.M.1    Chalberg, S.C.2    Dietz, H.C.3    Charbonneau, N.L.4    Sakai, L.Y.5
  • 11
    • 0027661298 scopus 로고
    • The fibrillin-Marfan syndrome connection
    • Ramirez, F., L. Pereira, H. Zhang, and B. Lee. 1993. The fibrillin-Marfan syndrome connection. Bioessays. 15:589-594.
    • (1993) Bioessays , vol.15 , pp. 589-594
    • Ramirez, F.1    Pereira, L.2    Zhang, H.3    Lee, B.4
  • 12
    • 0026585419 scopus 로고
    • Marfan syndrome: Defective synthesis, secretion and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
    • Milewicz, D. M., R. E. Pyeritz, E. S. Crawford, and P. H. Byers. 1992. Marfan syndrome: defective synthesis, secretion and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J. Clin. Invest. 89:79-86.
    • (1992) J. Clin. Invest. , vol.89 , pp. 79-86
    • Milewicz, D.M.1    Pyeritz, R.E.2    Crawford, E.S.3    Byers, P.H.4
  • 13
    • 0026029066 scopus 로고
    • Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils
    • Keene, D. R., B. K. Maddox, H. J. Kuo, L. Y. Sakai, and R. W. Glanville. 1991. Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils. J. Histochem. Cytochem. 39:441-449.
    • (1991) J. Histochem. Cytochem. , vol.39 , pp. 441-449
    • Keene, D.R.1    Maddox, B.K.2    Kuo, H.J.3    Sakai, L.Y.4    Glanville, R.W.5
  • 14
    • 0024849648 scopus 로고
    • Connective tissue microfibrils: Isolation and characterization of three large pepsin-resistant domains of fibrillin
    • Maddox, B. K., L. Y. Sakai, D. R. Keene, and R. W. Glanville. 1991. Connective tissue microfibrils: isolation and characterization of three large pepsin-resistant domains of fibrillin. J. Biol. Chem. 264:21381-21385.
    • (1991) J. Biol. Chem. , vol.264 , pp. 21381-21385
    • Maddox, B.K.1    Sakai, L.Y.2    Keene, D.R.3    Glanville, R.W.4
  • 15
    • 0027738563 scopus 로고
    • Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome
    • Aoyama, T., K. Tynan, H. C. Dietz, U. Francke, and H. Furthmayr. 1993. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum. Mol. Gen. 2:2135-2140.
    • (1993) Hum. Mol. Gen. , vol.2 , pp. 2135-2140
    • Aoyama, T.1    Tynan, K.2    Dietz, H.C.3    Francke, U.4    Furthmayr, H.5
  • 16
    • 0028242719 scopus 로고
    • Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenic mechanisms
    • Aoyama, T., U. Francke, H. C. Dietz, and H. Furthmayr. 1994. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenic mechanisms. J. Clin. Invest. 94:130-137.
    • (1994) J. Clin. Invest. , vol.94 , pp. 130-137
    • Aoyama, T.1    Francke, U.2    Dietz, H.C.3    Furthmayr, H.4
  • 17
    • 0027261517 scopus 로고
    • Four novel FBN1 mutations: Ignificance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    • Dietz, H. C., I. McIntosh, L. Y. Sakai, G. M. Corson, S. C. Chalberg, R. E. Pyeritz, and C. A. Francomano. 1993. Four novel FBN1 mutations: ignificance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 17:468-475.
    • (1993) Genomics , vol.17 , pp. 468-475
    • Dietz, H.C.1    McIntosh, I.2    Sakai, L.Y.3    Corson, G.M.4    Chalberg, S.C.5    Pyeritz, R.E.6    Francomano, C.A.7
  • 18
    • 0025335330 scopus 로고
    • Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
    • Hollister, D. W., M. Godfrey, L. Y. Sakai, and R. E. Pyeritz. 1990. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N. Engl. J. Med. 323:152-159.
    • (1990) N. Engl. J. Med. , vol.323 , pp. 152-159
    • Hollister, D.W.1    Godfrey, M.2    Sakai, L.Y.3    Pyeritz, R.E.4
  • 19
    • 0016700864 scopus 로고
    • Detection of specific sequences among DNA fragments separated by gel electrophoresis
    • Southern, E. M. 1975. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98:503-517.
    • (1975) J. Mol. Biol. , vol.98 , pp. 503-517
    • Southern, E.M.1
  • 20
  • 21
    • 0024349521 scopus 로고
    • Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
    • Urlaub, G., P. J. Mitchell, C. J. Ciudad, and L. A. Chasin. 1989. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol. Cell. Biol. 9:2868-2880.
    • (1989) Mol. Cell. Biol. , vol.9 , pp. 2868-2880
    • Urlaub, G.1    Mitchell, P.J.2    Ciudad, C.J.3    Chasin, L.A.4
  • 22
    • 0025162587 scopus 로고
    • Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA
    • Cheng, J., M. Fogel-Petrovic, and L. E. Maquat. 1990. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol. Cell. Biol. 10:5215-5225.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 5215-5225
    • Cheng, J.1    Fogel-Petrovic, M.2    Maquat, L.E.3
  • 23
    • 0024321925 scopus 로고
    • Association of mitral valve prolapse and systemic abnormalities of connective tissue: A phenotypic continuum
    • Glesby, M. J., and R. E. Pyeritz. 1989. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. J. Am. Med. Assoc. 262:523-528.
    • (1989) J. Am. Med. Assoc. , vol.262 , pp. 523-528
    • Glesby, M.J.1    Pyeritz, R.E.2
  • 24
    • 0027745820 scopus 로고
    • Mutations in type 1 procollagen that cause osleogenesis imperfecta: Effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies
    • Prockop, D. J., A. Colige, H. Helminen, J. S. Khillan, R. Pereira, and P. Vandenberg. 1993. Mutations in type 1 procollagen that cause osleogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies. J. Bone Miner. Res. 2:S489-492.
    • (1993) J. Bone Miner. Res. , vol.2
    • Prockop, D.J.1    Colige, A.2    Helminen, H.3    Khillan, J.S.4    Pereira, R.5    Vandenberg, P.6
  • 25
    • 0025323613 scopus 로고
    • The many faces of epidermal growth factor repeats
    • Davis, C. G. 1990. The many faces of epidermal growth factor repeats. New Biol. 2:410-419.
    • (1990) New Biol. , vol.2 , pp. 410-419
    • Davis, C.G.1
  • 28
    • 0027412003 scopus 로고
    • A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module
    • Hewett, D. R., J. R. Lynch, R. Smith, and B. C. Sykes. 1993. A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. Hum. Mol. Genet. 2:475-477.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 475-477
    • Hewett, D.R.1    Lynch, J.R.2    Smith, R.3    Sykes, B.C.4
  • 29
    • 0027141134 scopus 로고
    • The role of calcium in the organization of fibrillin microfibrils
    • Kielty, C. M., and C. A. Shuttleworth. 1993. The role of calcium in the organization of fibrillin microfibrils. FEBS (Fed. Eur. Biochem. Soc.). 336:323-326.
    • (1993) FEBS (Fed. Eur. Biochem. Soc.) , vol.336 , pp. 323-326
    • Kielty, C.M.1    Shuttleworth, C.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.