Abstract
Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-ß signalling. It is now known that the disease is caused by altered regulation of TGF-ß. As a result, the definition of MFS- and MFS-related diseases as the prototypical structural disorder of the connective tissue has changed to that of a developmental abnormality with broad and complex effects on the morphogenesis and tissue remodelling.
| Translated title of the contribution | [Molecular biological aspects of Marfan syndromes] |
|---|---|
| Original language | Danish |
| Journal | Ugeskrift for Laeger |
| Volume | 173 |
| Issue number | 5 |
| Pages (from-to) | 333-7 |
| Number of pages | 5 |
| ISSN | 0041-5782 |
| Publication status | Published - Jan 2011 |