Pathophysiology and therapeutics of thoracic aortic aneurysm in Marfan syndrome

K Asano, A Cantalupo, L Sedes, F Ramirez - Biomolecules, 2022 - mdpi.com
About 20% of individuals afflicted with thoracic aortic disease have single-gene mutations
that predispose the vessel to aneurysm formation and/or acute aortic dissection often without …

Single-cell transcriptomic profiling of vascular smooth muscle cell phenotype modulation in Marfan syndrome aortic aneurysm

AJ Pedroza, Y Tashima, R Shad, P Cheng… - … , and vascular biology, 2020 - Am Heart Assoc
Objective: To delineate temporal and spatial dynamics of vascular smooth muscle cell
(SMC) transcriptomic changes during aortic aneurysm development in Marfan syndrome …

The role of inflammation and myeloperoxidase-related oxidative stress in the pathogenesis of genetically triggered thoracic aortic aneurysms

C Malecki, BD Hambly, RW Jeremy… - International Journal of …, 2020 - mdpi.com
Genetically triggered thoracic aortic aneurysms (TAAs) are usually considered to exhibit
minimal levels of inflammation. However, emerging data demonstrate that specific features …

Fibrillin-1 regulates endothelial sprouting during angiogenesis

F Alonso, Y Dong, L Li, T Jahjah… - Proceedings of the …, 2023 - National Acad Sciences
Fibrillin-1 is an extracellular matrix protein that assembles into microfibrils which provide
critical functions in large blood vessels and other tissues. Mutations in the fibrillin-1 gene are …

Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and-9 in the …

AWY Chung, K Au Yeung, GGS Sandor… - Circulation …, 2007 - Am Heart Assoc
Thoracic aortic aneurysm (TAA) is the life-threatening complication of Marfan syndrome
(MFS), a connective tissue disorder caused by mutations in the fibrillin-1 gene. TAA is …

Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and …

AWY Chung, HHC Yang, MW Radomski… - Circulation …, 2008 - Am Heart Assoc
β-Blockers, eg, atenolol, are the cornerstone therapy for thoracic aortic aneurysm (TAA) in
patients with Marfan syndrome; however, continued aortic dilatation has been reported. We …

Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm

F Jimenez-Altayo, T Meirelles, E Crosas-Molist… - Free Radical Biology …, 2018 - Elsevier
Marfan syndrome (MFS) is characterized by the formation of ascending aortic aneurysms
resulting from altered assembly of extracellular matrix fibrillin-containing microfibrils and …

Molecular pathogenesis of Marfan syndrome

CJA Ramachandra, A Mehta, KWQ Guo, P Wong… - International journal of …, 2015 - Elsevier
Marfan syndrome (MFS) is a genetic disorder that affects multiple organs. Mortality imposed
by aortic aneurysm and dissections represent the most serious clinical manifestation of MFS …

Reactive oxygen species and oxidative stress in the pathogenesis and progression of genetic diseases of the connective tissue

G Egea, F Jiménez-Altayó, V Campuzano - Antioxidants, 2020 - mdpi.com
Connective tissue is known to provide structural and functional “glue” properties to other
tissues. It contains cellular and molecular components that are arranged in several dynamic …

Molecular Mechanisms in Genetic Aortopathy–Signaling Pathways and Potential Interventions

CX Dong, C Malecki, E Robertson, B Hambly… - International Journal of …, 2023 - mdpi.com
Thoracic aortic disease affects people of all ages and the majority of those aged< 60 years
have an underlying genetic cause. There is presently no effective medical therapy for …