Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections

Thoracic aortic aneurysms and dissections (TAAD) cause significant morbidity and mortality, but the genetic origins of TAAD remain largely unknown. In a genome-wide analysis of 418 sporadic TAAD cases, we identified 47 copy number variant (CNV) regions that were enriched in or unique to TAAD patient...

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Hlavní autoři: Prakash, Siddharth K., LeMaire, Scott A., Guo, Dong-Chuan, Russell, Ludivine, Regalado, Ellen S., Golabbakhsh, Hossein, Johnson, Ralph J., Safi, Hazim J., Estrera, Anthony L., Coselli, Joseph S., Bray, Molly S., Leal, Suzanne M., Milewicz, Dianna M., Belmont, John W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2997376/
https://ncbi.nlm.nih.gov/pubmed/21092924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.09.015
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