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Title
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Chondrodysplasias and aneurysmal thoracic aortopathy : an emerging tale of molecular intersection
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Author
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Abstract
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| Although at first glance chondrodysplasia and aneurysmal thoracic aortopathy seem oddly dissimilar, recent lines of evidences indicate that they share molecular similarities. Chondrodysplasias are a group of skeletal disorders characterized by genetic defects in hyaline cartilage. Aneurysmal thoracic aortopathy is the pathological enlargement of the thoracic aorta due to wall weakness, along with its ensuing life-threatening complications (i.e., aortic dissection and/or rupture). Extracellular matrix dysregulation, abnormal TGF-beta signaling, and, to a more limited extent, endoplasmic reticu-lum stress emerge as common disease processes. In this review we provide a comprehensive overview of the genetic and pathomechanistic overlap as well as of how these commonalities can guide treatment strategies for both disease entities. |
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Language
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English
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Source (journal)
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Trends in molecular medicine. - London
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Publication
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Oxford
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Elsevier sci ltd
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2020
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ISSN
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1471-4914
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DOI
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10.1016/J.MOLMED.2020.05.004
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Volume/pages
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26
:8
(2020)
, p. 783-795
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ISI
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000561576400009
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Pubmed ID
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32507656
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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