Marfan syndrome-Reference-Cited by-同舟云学术

Marfan syndrome

Published:2021-09-02 Issue:1 Volume:7 Page:
ISSN:2056-676X
Container-title:Nature Reviews Disease Primers
language:en
Short-container-title:Nat Rev Dis Primers

Author:

Milewicz Dianna M.^ORCID,Braverman Alan C.,De Backer Julie,Morris Shaine A.^ORCID,Boileau Catherine^ORCID,Maumenee Irene H.^ORCID,Jondeau Guillaume,Evangelista Arturo,Pyeritz Reed E.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

https://www.nature.com/articles/s41572-021-00298-7.pdf

Reference293 articles.

1. Hollister, D. W., Godfrey, M., Sakai, L. Y. & Pyeritz, R. E. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N. Engl. J. Med. 323, 152–159 (1990). This article describes decreases in an extracellular matrix protein, fibrillin-1, in skin samples and in the matrix of explanted dermal fibroblasts from patients with MFS.

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

3. Dietz, H. C. et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337–339 (1991). The first study identifying the mutations in the gene for fibrillin-1, FBN1, in patients with MFS, thus determining that FBN1 mutations are the cause of MFS.

4. Milewicz, D. M., Pyeritz, R. E., Crawford, E. S. & Byers, P. H. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J. Clin. Invest. 89, 79–86 (1992).

5. Chiu, H. H., Wu, M. H., Chen, H. C., Kao, F. Y. & Huang, S. K. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin. Proc. 89, 34–42 (2014).

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