Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Historically, BAV-related TAA was considered as a hemodynamic consequence of the valve defect. Multiple lines of evidence curre...

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Published in:Front Physiol
Main Authors: Gillis, Elisabeth, Kumar, Ajay A., Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A., Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A., Mital, Seema, Mertens, Luc, Björck, Hanna M., Franco-Cereceda, Anders, McCallion, Andrew S., Van Laer, Lut, Verhagen, Judith M. A., van de Laar, Ingrid M. B. H., Wessels, Marja W., Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C., Verstraeten, Aline, Loeys, Bart L.
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2017
Subjects:
Physiology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5469151/
https://ncbi.nlm.nih.gov/pubmed/28659821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2017.00400
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