|
Title
|
|
|
|
TGF- signalopathies as a paradigm for translational medicine
|
|
|
Author
|
|
|
|
|
|
|
Abstract
|
|
|
|
| This review focusses on impact of a better knowledge of pathogenic mechanisms of Marfan and related disorders on their treatment strategies. It was long believed that a structural impairment formed the basis of Marfan syndrome as deficiency in the structural extracellular matrix component, fibrillin-1 is the cause of Marfan syndrome. However, the study of Marfan mouse models has revealed the strong involvement of the transforming growth factor-beta signalling pathway in the pathogenesis of Marfan. Similarly, this pathway was demonstrated to be key in the pathogenesis of Loeys-Dietz and Shprintzen-Goldberg syndrome. The elucidation of the underlying pathogenic mechanisms has led to new treatment strategies, targeting the overactive TGF-beta pathway. Various clinical trials are currently investigating the potential new treatment options. A meta-analysis will contribute to a better understanding of the various trial results. (C) 2015 Elsevier Masson SAS. All rights reserved. |
|
|
|
Language
|
|
|
|
English
|
|
|
Source (journal)
|
|
|
|
European journal of medical genetics. - Paris
|
|
|
Publication
|
|
|
|
Amsterdam
:
Elsevier science bv
,
2015
|
|
|
ISSN
|
|
|
|
1769-7212
|
|
|
DOI
|
|
|
|
10.1016/J.EJMG.2015.10.010
|
|
|
Volume/pages
|
|
|
|
58
:12
(2015)
, p. 695-703
|
|
|
ISI
|
|
|
|
000366093100011
|
|
|
Full text (Publisher's DOI)
|
|
|
|
|
|
|
Full text (publisher's version - intranet only)
|
|
|
|
|
|