Genetics of thoracic and abdominal aortic diseases: aneurysms, dissections, and ruptures

A Pinard, GT Jones, DM Milewicz - Circulation research, 2019 - Am Heart Assoc
Dissections or ruptures of aortic aneurysms remain a leading cause of death in the
developed world, with the majority of deaths being preventable if individuals at risk are …

From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta

JB Michel, G Jondeau, DM Milewicz - Cardiovascular research, 2018 - academic.oup.com
Vascular smooth muscle cells (vSMCs) play a crucial role in both the pathogenesis of
Aneurysms and Dissections of the ascending thoracic aorta (TAAD) in humans and in the …

Clinical validity of genes for heritable thoracic aortic aneurysm and dissection

M Renard, C Francis, R Ghosh, AF Scott… - Journal of the American …, 2018 - jacc.org
Background: Thoracic aortic aneurysms progressively enlarge and predispose to acute
aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying …

The genetics and typical traits of thoracic aortic aneurysm and dissection

J Rodrigues Bento, J Meester, I Luyckx… - Annual review of …, 2022 - annualreviews.org
Genetic predisposition and risk factors such as hypertension and smoking can instigate the
development of thoracic aortic aneurysm (TAA), which can lead to highly lethal aortic wall …

Biology and biomechanics of the heart valve extracellular matrix

KM Kodigepalli, K Thatcher, T West… - Journal of …, 2020 - mdpi.com
Heart valves are dynamic structures that, in the average human, open and close over
100,000 times per day, and 3× 109 times per lifetime to maintain unidirectional blood flow …

Structure of the elastin-contractile units in the thoracic aorta and how genes that cause thoracic aortic aneurysms and dissections disrupt this structure

A Karimi, DM Milewicz - Canadian Journal of Cardiology, 2016 - Elsevier
The medial layer of the aorta confers elasticity and strength to the aortic wall and is
composed of alternating layers of smooth muscle cells (SMCs) and elastic fibres. The SMC …

Elastic fibers and biomechanics of the aorta: Insights from mouse studies

H Yanagisawa, J Wagenseil - Matrix Biology, 2020 - Elsevier
Elastic fibers are major components of the extracellular matrix (ECM) in the aorta and
support a life-long cycling of stretch and recoil. Elastic fibers are formed from mid-gestation …

Genes associated with thoracic aortic aneurysm and dissection: 2019 update and clinical implications

TF Vinholo, AJ Brownstein, BA Ziganshin, MA Zafar… - Aorta, 2019 - thieme-connect.com
Thoracic aortic aneurysm is a typically silent disease characterized by a lethal natural
history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection …

[HTML][HTML] Genes associated with thoracic aortic aneurysm and dissection

AJ Brownstein, BA Ziganshin, H Kuivaniemi, SC Body… - Aorta, 2017 - thieme-connect.com
Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging
progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that …

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

CS Adamo, A Beyens, A Schiavinato, DR Keene… - The American Journal of …, 2022 - cell.com
Summary EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component
of the elastic fiber network and localizes to the interface between the fibrillin microfibril …