References
- Yurchenco P D, Birk D E, Mecham R P. Extracellular Matrix Assembly and Structure. Academic Press, San Diego, CA 1994
- Mecham R P, Davis E C. Elastic fiber structure and assembly. Extracellular Matrix Assembly and Structure, P D Yurchenco, D E Birk, R P Mecham. Academic Press, San Diego, CA 1994; 281–314
- Dietz H C, Cutting G R, Pyeritz R E, Maslen C EL, Sakai L Y, Corson G M, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337–9
- Putnam E A, Zhang H, Ramirez F, Milewicz D M. Fibrillin 2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet 1995; 11: 456–8
- Ewart A K, Morris C A, Atkinson D, Jin W, Sternes K, Spallone P, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5: 11–6
- Ren Z X, Brewton R G, Mayne R. An analysis by rotary shadowing of the structure of the mammalian vitreous humors and zonular apparatus. J Struct Biol 1991; 106: 57–63
- Keene D R, Maddox K, Kuo H, Sakai L Y, Glanville R W. Extraction of extendible beaded structures and identification as fibrillin-containing extracellular matrix microfibrils. J Histochem Cytochem 1991; 39: 441–9
- Rosenbloom J, Abrams W R, Mecham R P. Extracellular matrix 4: the elastic fiber. FASEB J 1994; 7: 1208–16
- Cleary E G, Gibson M A. Elastin-associated microfibrils and microfibrillar proteins. Int Rev Connect Tissue Res 1983; 10: 97–209
- Hurle J M, Corson G, Daniels K, Reiner R, Sakai L Y, Solursh M. Elastin exhibits a distinctive temporal and spatial pattern of distribution in the skeleton. J Cell Sci 1994; 107: 2623–34
- Corson G M, Chalberg S C, Dietz H C, Charbonneaus N L, Sakai L Y. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics 1993; 17: 476–84
- Pereira L, D'Alessio M, Ramirez F, Lynch J R, Sykes B, Pangilinan T, et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 1993; 2: 961–8
- Zhang H, Apfelroth D S, Hu W, Davis E C, Sanguined C, Bonadio J, et al. Structure and expression of fibrillin 2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol 1994; 124: 855–63
- Rao Z, Handford P, Mayhew M, Knott V, Brownlee G G, Stuart D. The structure of a Ca2*-binding epidermal growth factor-like domain: its role in protein-protein interactions. Cell 1995; 82: 131–41
- Reinhardt D P, Ono R N, Sakai L Y. Calcium stabilizes fibrillin 1 against proteolytic degradation. J Biol Chem 1997; 272: 1231–6
- Reinhardt D P, Mechling D E, Boswell B A, Keene D R, Sakai L Y, Bachinger H P. Calcium determines the shape of fibrillin. J Biol Chem 1997; 272: 7368–73
- Wess T J, Purslow P P, Sherratt M J, Ashworth J, Shuttleworth C P, Kielty C M. Calcium determines the supramolecular organization of fibrillin-rich microfibrils. J Cell Biol 1998; 141: 829–37
- Cardy C, Handford P A. Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin 1 calcium-binding epidermal growth factor-like domains. J Mol Biol 1998; 276: 855–86
- Zhang H, Hu W, Ramirez F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 1995; 129: 1165–76
- Ramirez F. Fibrillin mutations in Marfan syndrome and related phenotype. Curr Opin Genet Dev 1996; 6: 309–15
- Dietz H, Ramirez F, Sakai L. Marfan syndrome and other microfibrillar diseases. Advances in Human Genetics, H Harris, K Hirshhorn. Plenum Press, New York, NY 1994; Vol 22: 153–85
- Dietz H, Pyeritz R. Mutations in the human gene for fibrillin 1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995; 4: 1799–809
- Sood S, Eldadah Z A, Krause W L, McIntosh I, Dietz H C. Mutation in fibrillin 1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 1996; 12: 209–11
- Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 1994; 6: 64–9
- Park E S, Putnam E A, Chitayat D, Child A, Milewicz D M. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24–34 during human development. Am] Med Genet 1998; 18: 350–5
- Pereira L, Andrikopoulos K, Tian J, Lee S Y, Keene D R, Ono R, et al. Targeting of the gene encoding fibrillin 1 recapitulates the vascular aspects of Marfan syndrome. Nat Genet 1997; 17: 218–22
- Pereira L, Lee S Y, Gayraud B, Andrikopoulos K, Shapiro S D, Bunton T, et al. Pathogenic sequence for aneurysm revealed in mice underexpressing fibrillin 1. Proc Natl Acad Sci VSA 1999; 96: 3819–23
- Li D Y, Brooke B, Davis E C, Mecham R P, Sorensen L K, Boath B B, et al. Elastin is an essential determinant of arterial morphogenesis. Nature 1998; 393: 276–80
- Li D Y, Faury G, Taylor D G, Davis E C, Boyle W A, Mecham R P, et al. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest 1998; 102: 1783–7
- Morris C A. Genetic aspects of supravalvular aortic stenosis. Curr Opin Cardiol 1998; 13: 214–9