Free Access
Med Sci (Paris)
Volume 25, Number 2, Février 2009
Page(s) 161 - 167
Section M/S revues
Published online 15 February 2009
  1. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kDa glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986; 103 : 2499–509. [Google Scholar]
  2. Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 1990; 323 : 152–9. [Google Scholar]
  3. Magenis RE, Maslen CL, Smith L, et al. Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics 1991; 11 : 346–51. [Google Scholar]
  4. Kissin EY, Lemaire R, Korn JH, Lafyatis R. Transforming growth factor beta induces fibroblast fibrillin-1 matrix formation. Arthritis Rheum 2002; 46 : 3000–9. [Google Scholar]
  5. Itoh S, ten Dijke P. Negative regulation of TGF-beta receptor/Smad signal transduction. Curr Opin Cell Biol 2007; 19 : 176–84. [Google Scholar]
  6. Ignotz RA, Massague J. Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 1986; 261 : 4337–45. [Google Scholar]
  7. Isogai Z, Ono RN, Ushiro S, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 2003; 278 : 2750–7. [Google Scholar]
  8. Nunes I, Gleizes PE, Metz CN, Rifkin DB. Latent transforming growth factorb binding protein domains involved in activation and transglutaminase-dependent cross-linking of latent transforming growth factorb. J Cell Biol 1997; 136 : 1151–63. [Google Scholar]
  9. Collod-Beroud G, Le Bourdelles S, Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003; 22 : 199–208. [Google Scholar]
  10. Pereira L, Andrikopoulos K, Tian J, et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 1997; 17 : 218–22. [Google Scholar]
  11. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33 : 407–11. [Google Scholar]
  12. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36 : 855–60. [Google Scholar]
  13. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37 : 275–81. [Google Scholar]
  14. McGaha T, Saito S, Phelps RG, et al. Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes. J Invest Dermatol 2001; 116 : 136–43. [Google Scholar]
  15. Sonnylal S, Denton CP, Zheng B, et al. Postnatal induction of transforming growth factor beta signaling in fibroblasts of mice recapitulates clinical, histologic, and biochemical features of scleroderma. Arthritis Rheum 2007; 56 : 334–44. [Google Scholar]
  16. Allanore Y, Wipff J, Kahan A, Boileau C. Genetic basis of systemic sclerosis. Joint Bone Spine 2007; 74 : 577–83. [Google Scholar]
  17. Wipff J, Giraud M, Sibilia J, et al. Polymorphic markers of the fibrillin-1 gene and systemic sclerosis in European Caucasian patients. J Rheumatol 2008; 4 : 643–9. [Google Scholar]
  18. Wallis DD, Tan FK, Kessler R, et al. Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). Arthritis Rheum 2004; 50 : 329–32. [Google Scholar]
  19. Tan FK, Arnett FC, Antohi S, et al. Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. J Immunol 1999; 163 : 1066–72. [Google Scholar]
  20. Snowden N, Coupes B, Herrick A, et al. Plasma TGF beta in systemic sclerosis: a cross-sectional study. Ann Rheum Dis 1994; 53 : 763–7. [Google Scholar]
  21. Coker RK, Laurent GJ, Jeffery PK, et al. Localisation of transforming growth factor beta1 and beta3 mRNA transcripts in normal and fibrotic human lung. Thorax 2001; 56 : 549–56. [Google Scholar]
  22. Pannu J, Gore-Hyer E, Yamanaka M, et al. An increased transforming growth factor beta receptor type I:type II ratio contributes to elevated collagen protein synthesis that is resistant to inhibition via a kinase-deficient transforming growth factor beta receptor type II in scleroderma. Arthritis Rheum 2004; 50 : 1566–77. [Google Scholar]
  23. Dong C, Zhu S, Wang T, et al. Deficient Smad7 expression: a putative molecular defect in scleroderma. Proc Natl Acad Sci USA 2002; 99 : 3908–13. [Google Scholar]
  24. Denton CP, Merkel PA, Furst DE, et al. Recombinant human anti-transforming growth factor beta1 antibody therapy in systemic sclerosis: a multicenter, randomized, placebo-controlled phase I/II trial of CAT-192. Arthritis Rheum 2007; 56 :323–33. [Google Scholar]
  25. Sztrymf B, Yaici A, Girerd B, Humbert M. Genes and pulmonary hypertension. Respiration 2007; 74 : 123–32. [Google Scholar]
  26. Wipff J, Kahan A, Hachulla E, et al. Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension. Rheumatology (Oxford) 2007; 46 : 622–5. [Google Scholar]
  27. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005; 20 : 194–200. [Google Scholar]
  28. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312 : 117–21. [Google Scholar]
  29. Michel JB. Système rénine-angiotensine et remodelage vasculaire. Med Sci (Paris) 2004; 20 : 409–13. [Google Scholar]
  30. Campistol JM, Inigo P, Larios S, et al. Role of transforming growth factor-beta 1 in the progression of chronic allograft nephropathy. Nephrol Dial Transplant 2001; 16 (suppl 1) : 114–6. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.