[HTML][HTML] Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors

J Thomson, M Singh, A Eckersley, SA Cain… - Seminars in cell & …, 2019 - Elsevier
Fibrillin microfibrils are extensible polymers that endow connective tissues with long-range
elasticity and have widespread distributions in both elastic and non-elastic tissues. They act …

Major review: exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

IF Aboobakar, WM Johnson, WD Stamer… - Experimental eye …, 2017 - Elsevier
Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of
extracellular fibrillar material throughout the body. The most recognized disease …

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 …

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans

VS Lee, CM Halabi, EP Hoffman… - Proceedings of the …, 2016 - National Acad Sciences
Thoracic aortic aneurysms and dissections (TAAD) represent a substantial cause of
morbidity and mortality worldwide. Many individuals presenting with an inherited form of …

Marfan syndrome: current perspectives

G Pepe, B Giusti, E Sticchi, R Abbate… - The application of …, 2016 - Taylor & Francis
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal
dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important …

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 …

Effects of age, sex, and extracellular matrix integrity on aortic dilatation and rupture in a mouse model of Marfan syndrome

D Weiss, BV Rego, C Cavinato, DS Li… - … and Vascular Biology, 2023 - Am Heart Assoc
BACKGROUND: Transmural failure of the aorta is responsible for substantial morbidity and
mortality; it occurs when mechanical stress exceeds strength. The aortic root and ascending …

Insights on the pathogenesis of aneurysm through the study of hereditary aortopathies

TJ Creamer, EE Bramel, EG MacFarlane - Genes, 2021 - mdpi.com
Thoracic aortic aneurysms (TAA) are permanent and localized dilations of the aorta that
predispose patients to a life-threatening risk of aortic dissection or rupture. The identification …

Emerging roles of lysyl oxidases in the cardiovascular system: new concepts and therapeutic challenges

J Martínez-González, S Varona, L Cañes, M Galán… - Biomolecules, 2019 - mdpi.com
Lysyl oxidases (LOX and LOX-likes (LOXLs) isoenzymes) belong to a family of copper-
dependent enzymes classically involved in the covalent cross-linking of collagen and …

The role of lysyl oxidase-like 1 (LOXL1) in exfoliation syndrome and glaucoma

U Schlötzer-Schrehardt, M Zenkel - Experimental Eye Research, 2019 - Elsevier
Exfoliation syndrome (XFS) is an age-related systemic disease that affects the extracellular
matrix. It increases the risk of glaucoma (exfoliation glaucoma, XFG) and susceptibility to …