Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?
نویسندگان
چکیده
منابع مشابه
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
RATIONALE Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families. OBJECTIVES To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. METHODS AND RESULTS Exome sequenc...
متن کاملTGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
AIMS Transforming growth factor-β (TGF-β) signaling is critical for the differentiation of smooth muscle cells (SMCs) into quiescent cells expressing a full repertoire of contractile proteins. Heterozygous mutations in TGF-β receptor type II (TGFBR2) disrupt TGF-β signaling and lead to genetic conditions that predispose to thoracic aortic aneurysms and dissections (TAADs). The aim of this study...
متن کاملFamilial thoracic aortic aneurysms and dissections.
Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, atherosclerosis, inflammation and Marfan syndrome. In this report, we discuss a familial form of thoracic aortic dilatation and/or dissection that is di...
متن کاملAdventitial Fibroblast Abormality in Thoracic Aortic Aneurysms and Aortic Dissections
BACKGROUND Development of thoracic aortic aneurysms and aortic dissections (TAAD) is attributed to unbearable wall tension superimposed on defective aortic wall integrity and impaired aortic repair mechanisms. Central to this repair mechanisms are well-balanced and adequately functional cellular components of the aortic wall, including endothelial cells, smooth muscle cells (SMCs), inflammatory...
متن کاملNon-syndromic thoracic aortic aneurysms and dissections--a genetic review.
Thoracic aortic aneurysm and dissections (TAADs) are associated with both high mortality and medical expense. Poor outcomes are preventable by surgical repair; however, identifying individuals at-risk is difficult. Researchers are scanning the human genome to characterize the genetic determinants of TAADs by identifying chromosomal regions, gene mutations, single nucleotide polymorphism (SNP), ...
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ژورنال
عنوان ژورنال: Circulation: Genomic and Precision Medicine
سال: 2019
ISSN: 2574-8300
DOI: 10.1161/circgen.119.002626