References

1. Beighton, P.; De Paepe, A.; Danks, D.; Finidori, G. Gedde-Dahl, T.; Goodman, R.; Hall, J.G.; Hollister, D.W. Horton, W.; McKusick, V.A.; Opitz, J.M.; Pope, F.M. Pyeritz, R.E.; Rimoin, D.L.; Sillence, D.; Spranger, J.W. Thompson, E.; Tsipouras, P.; Viljoen, D.; Winship, I. Young, I. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am. J. Med. Genet. 1988, 29, 581-594.

2. De Paepe, A.; Devereux, R.B.; Dietz, H.; Hennekam, C.M.; Pyeritz, R.E. Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 1996, 62, 417-426.

3. Sakai, L.; Keene, D.R.; Engvall, E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 1986, 103 (6), 2499-2509.

4. Hollister, D.; Godfrey, M.; Sakai, L.; Pyeritz, R.

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N. Engl. J. Med. 1990, 323 (3), 152-159.

5. Kainulainen, K.; Pulkkinen, L.; Savolainen, A.; Kaitila, I.; Peltonen, L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N. Engl. J. Med. 1990, 323 (14), 935-939.

6. Lee, B.; Godfrey, M.; Vitale, E.; Hori, H.; Mattei, M.-G.; Sarfarazi, M.; Tsipouras, P.; Ramirez, F.; Hollister, D. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991, 352, 330-334.

7. Maslen, C.L.; Corson, G.M.; Maddox, B.K.; Glanville, R.W.; Sakai, L. Partial sequence of a candidate gene for the Marfan syndrome. Nature 1991, 352, 334-337.

8. Dietz, H.; Cutting, G.; Pyeritz, R.; Maslen, C.; Sakai, L.; Corson, G.; Puffenberger, E.; Hamosh, A.; Nanthakumar, E.; Curristin, S.; et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene [see comments]. Nature 1991, 352 (6333), 337-339.

9. Pereira, L.; D'Alessio, M.; Ramirez, F.; Lynch, J.R.; Sykes, B.; Pangilinan, T.; Bonadio, J. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum. Mol. Genet. 1993, 2, 961 -968.

10. Biery, N.; Eldadah, Z.; Moore, C.; Stetten, G.; Spencer, F.; Dietz, H. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics 1999, 56 (1), 70-77.

11. Reinhardt, D.; Ono, R.; Notbohm, H.; Muller, P.; Bachinger, H.; Sakai, L. Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. J. Biol. Chem. 2000, 275, 12339-12345.

12. Handford, P.A.; Downing, A.K.; Reinhardt, D.P.; Sakai, L.Y. Fibrillin: From domain structure to supramolecular assembly. Matrix Biol. 2000, 19 (6), 457-470.

13. Corson, G.M.; Chalberg, S.C.; Dietz, H.C.; Charbonneau, N.L.; Sakai, L.S. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics 1993, 17, 476-484.

14. Giltay, R.; Timpl, R.; Kostka, G. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. Matrix Biol. 1999, 18, 469-480.

15. Trask, T.; Ritty, T.; Broekelmann, T.; Tisdale, C.; Mecham, R. N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: A possible first step in microfibril assembly. Biochem. J. 1999, 340 (3), 693701.

16. Glanville, R.; Qian, R.; McClure, D.; Maslen, C. Calcium binding, hydroxylation, and glycosylation of the precursor epidermal growth factor-like domains of fibrillin-1, the Marfan gene protein. J. Biol. Chem. 1994, 269, 2663026634.

17. Baldock, C.; Koster, A.; Ziese, U.; Rock, M.; Sherratt, M.; Kadler, K.; Shuttleworth, C.; Kielty, C. The supramolecular organization of fibrillin-rich microfibrils. J. Cell Biol. 21. 2001, 152, 1045-1056.

18. Zhang, H.; Hu, W.; Ramirez, F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J. Cell Biol. 1995, 129 (4), 1165-1176.

19. Collod-Beroud, G.; Le Bourdelles, S.; Ades, L.; Ala- 22. Kokko, L.; Booms, P.; Boxer, M.; Child, A.; Comeglio, P.;

De Paepe, A.; Hyland, J.C.; Holman, K.; Kaitila, I.; Loeys,

B.; Matyas, G.; Nuytinck, L.; Peltonen, L.; Rantamaki, T.; Robinson, P.; Steinmann, B.; Junien, C.; Beroud, C.; Boileau, C. Update of the UMD-FBN1 mutation database 23. and creation of a FBN1 polymorphism database. Human Mutat. 2003, 22, 199 -208.

20. Boileau, C.; Jondeau, G.; Babron, M.-C.; Coulon, M.; Alexandre, J.-A.; Sakai, L.; Melki, J.; Delorme, G.; Dubourg, O.; Bona'iti-Pellie, C.; Bourdarias, J.-P.; Junien,

C. Autosomal dominant Marfan-like connective-tissue 24. disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am. J. Hum. Genet. 1993, 53, 46-54.

Collod, G.; Babron, M.; Jondeau, G.; Coulon, M.; Weissenbach, J.; Dubourg, O.; Bourdarias, J.; Bonaiti-Pellie, C.; Junien, C.; Boileau, C. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat. Genet. 1994, 8 (3), 264-268.

McGookey-Milewicz, D.; Pyeritz, R.E.; Crawford, E.S.; Byers, P. Marfan syndrome: Defective synthesis, secretion, and extracellular matrix, formation of fibrillin by cultured dermal fibroblasts. J. Clin. Invest. 1992, 89, 7986.

Aoyama, T.; Francke, U.; Dietz, H.; Furthmayr, H. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J. Clin. Invest. 1994, 94, 130-137.

Pereira, L.; Levran, O.; Ramirez, F.; Lynch, J.R.; Sykes, B.; Pyeritz, R.E.; Dietz, H.C. A molecular approach to the stratification of the cardiovascular risk in families with Marfan's syndrome. N. Engl. J. Med. 1994, 331, 148-152.

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