Marfan syndrome; A connective tissue disease at the crossroads of mechanotransduction, TGFβ signaling and cell stemness
F Ramirez, C Caescu, E Wondimu, J Galatioto - Matrix Biology, 2018 - Elsevier
Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of
connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique …
connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique …
The living aortic valve: From molecules to function
The aortic valve lies in a unique hemodynamic environment, one characterized by a range
of stresses (shear stress, bending forces, loading forces and strain) that vary in intensity and …
of stresses (shear stress, bending forces, loading forces and strain) that vary in intensity and …
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
RA Gould, H Aziz, CE Woods, MA Seman-Senderos… - Nature …, 2019 - nature.com
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–
2%),–that frequently presents with ascending aortic aneurysm (AscAA). BAV/AscAA shows …
2%),–that frequently presents with ascending aortic aneurysm (AscAA). BAV/AscAA shows …
AI-dente: an open machine learning based tool to interpret nano-indentation data of soft tissues and materials
Nano-indentation is a promising method to identify the constitutive parameters of soft
materials, including soft tissues. Especially when materials are very small and …
materials, including soft tissues. Especially when materials are very small and …
[HTML][HTML] Marfan syndrome
I Salik, P Rawla - 2019 - europepmc.org
Objectives: Describe the pathophysiology of Marfan syndrome. Review the cardiovascular
alterations in Marfan syndrome. Summarize the treatment options in patients with Marfan …
alterations in Marfan syndrome. Summarize the treatment options in patients with Marfan …
In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation
T Curry, ME Barrameda, TC Thomas, M Esfandiarei - Scientific Reports, 2024 - nature.com
Abstract In individuals with Marfan Syndrome (MFS), fibrillin-1 gene (FBN1) mutations can
lead to vascular wall weakening and dysfunction. The experimental mouse model of MFS …
lead to vascular wall weakening and dysfunction. The experimental mouse model of MFS …
Cells and extracellular matrix interplay in cardiac valve disease: because age matters
Cardiovascular aging is a physiological process affecting all components of the heart.
Despite the interest and experimental effort lavished on aging of cardiac cells, increasing …
Despite the interest and experimental effort lavished on aging of cardiac cells, increasing …
Cyclic mechanical loading is essential for Rac1-mediated elongation and remodeling of the embryonic mitral valve
During valvulogenesis, globular endocardial cushions elongate and remodel into highly
organized thin fibrous leaflets. Proper regulation of this dynamic process is essential to …
organized thin fibrous leaflets. Proper regulation of this dynamic process is essential to …
Early impairment of lung mechanics in a murine model of Marfan syndrome
JJ Uriarte, T Meirelles, D Gorbenko del Blanco… - PLoS …, 2016 - journals.plos.org
Early morbidity and mortality in patients with Marfan syndrome (MFS)-a connective tissue
disease caused by mutations in fibrillin-1 gene-are mainly caused by aorta aneurysm and …
disease caused by mutations in fibrillin-1 gene-are mainly caused by aorta aneurysm and …
Dynamic changes in mitral valve extracellular matrix, tissue mechanics and function in a mouse model of Marfan syndrome
Abstract Objective Mouse models of Marfan syndrome (MFS) with Fibrillin 1 (Fbn1) variant
C1041G exhibit cardiovascular abnormalities, including myxomatous valve disease (MVD) …
C1041G exhibit cardiovascular abnormalities, including myxomatous valve disease (MVD) …