Searched for: subject%3A%22Elastic%255C%2Bfibers%22
(1 - 3 of 3)
Sasaki, T. (author), Stoop, R. (author), Sakai, T. (author), Hess, A. (author), Deutzmann, R. (author), Schlötzer-Schrehardt, U. (author), Chu, M.L. (author), von der Mark, K. (author)
The extracellular matrix protein fibulin-4 has been shown to be indispensable for elastic fiber assembly, but there is also evidence from human mutations that it is involved in controlling skeletal development and bone stability. Fibulin-4 mutations were identified in patients suffering from vascular abnormality and/or cutis laxa, and some of...
article 2016
Busnadiego, O. (author), Gorbenko del Blanco, D. (author), González-Santamaría, J. (author), Habashi, J.P. (author), Calderon, J.F. (author), Sandoval, P. (author), Bedja, D. (author), Guinea-Viniegra, J. (author), Lopez-Cabrera, M. (author), Rosell-Garcia, T. (author), Snabel, J.M. (author), Hanemaaijer, R. (author), Forteza, A. (author), Dietz, H.C. (author), Egea, G. (author), Rodriguez-Pascual, F. (author)
Patients with Marfan syndrome (MFS) are at high risk of life-threatening aortic dissections. The condition is caused by mutations in the gene encoding fibrillin-1, an essential component in the formation of elastic fibers. While experimental findings in animal models of the disease have shown the involvement of transforming growth factor-β (TGF...
article 2015
TNO Kwaliteit van Leven (author), Goede, J. (author), Hack, W.W.M. (author), Sijstermans, K. (author), Pierik, F.H. (author)
Pseudoxantoma elasticum (PXE) is a rare chromosomal disorder that results in mineralization of elastic fibers, especially in the skin, eye, and cardiovascular system. Recently, PXE has been associated with testicular microlithiasis (TM),1 which itself might be associated with testicular malignancy.2 Here we report on a 9-year-old boy with PXE...
article 2008