Publication
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
Volume/pages
58:12(2015), p. 695-703
ISI
000366093100011
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
[E?say:metaLocaldata.cgzprojectinf]
Clinical and (patho)genetic study of bicuspid aortic valve and associated aortic aneurysm.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 15.01.2016
Last edited 08.10.2017
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