Publication
Title
Loeys-Dietz syndrome
Author
Abstract
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGF beta) signalling pathway: TGFBR1, TGFBR2, SMAD3 and TGFB2. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGF beta signalling. These insights offer new options for therapeutic interventions.
Language
English
Source (journal)
Advances in experimental medicine and biology. - New York, N.Y.
Publication
New York, N.Y. : 2014
ISSN
0065-2598
Volume/pages
802(2014), p. 95-105
ISI
000339357300007
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 08.09.2014
Last edited 11.06.2017
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