Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall

GL Perrucci, E Rurali, A Gowran, A Pini… - Cellular and Molecular …, 2017 - Springer
Marfan syndrome (MFS) is a connective tissue disorder with multiple organ manifestations.
The genetic cause of this syndrome is the mutation of the FBN1 gene, encoding the …

Aortopathy in Marfan syndrome: an update

F Romaniello, D Mazzaglia, A Pellegrino… - Cardiovascular …, 2014 - Elsevier
Marfan syndrome (MFS) is an inherited autosomal dominant multisystem disease caused by
mutations in the FBN1 gene encoding fibrillin-1, an extracellular matrix glycoprotein widely …

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 …

Insights into elastin fiber fragmentation: Mechanisms and treatment of aortic aneurysm in Marfan syndrome

S Seeburun, S Wu, D Hemani, L Pham, D Ju, Y Xie… - Vascular …, 2023 - Elsevier
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by
fibrillin 1 (FBN1) gene mutations that results in defects in the skeletal, ocular, and …

[HTML][HTML] A FBN1 3′ UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome

AM Siegert, GG Díaz-Barriga, A Esteve-Codina… - … et Biophysica Acta (BBA …, 2019 - Elsevier
Marfan syndrome (MFS) is caused by mutations in the protein fibrillin-1 (FBN1) which affects
the integrity of connective tissue elastic fibres. The most severe clinical outcome is the …

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 …

Translational medicine: towards gene therapy of Marfan syndrome

K Kallenbach, A Remes, OJ Müller, R Arif… - Journal of clinical …, 2022 - mdpi.com
Marfan syndrome (MFS) is one of the most common inherited disorders of connective tissue
caused by mutations of the fibrillin-1 gene (FBN1). Vascular abnormalities, such as the …

Glycoproteomic analysis of the aortic extracellular matrix in Marfan patients

X Yin, S Wanga, AL Fellows… - … , and vascular biology, 2019 - Am Heart Assoc
Objective: Marfan syndrome (MFS) is caused by mutations in FBN1 (fibrillin-1), an
extracellular matrix (ECM) component, which is modified post-translationally by …

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

L Pereira, SY Lee, B Gayraud… - Proceedings of the …, 1999 - National Acad Sciences
Dissecting aortic aneurysm is the hallmark of Marfan syndrome (MFS) and the result of
mutations in fibrillin-1, the major constituent of elastin-associated extracellular microfibrils. It …

The molecular genetics of Marfan syndrome and related disorders

PN Robinson, E Arteaga-Solis, C Baldock… - Journal of medical …, 2006 - jmg.bmj.com
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of
connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular …