Effects of Fibrillin-1 Degradation on Microfibril Ultrastructure [PDF]
Journal of Biological Chemistry, 2007 Current models of the elastic properties and structural organization of fibrillin-containing microfibrils are based primarily on microscopic analyses of microfibrils liberated from connective tissues after digestion with crude collagenase. Results presented here demonstrate that this digestion resulted in the cleavage of fibrillin-1 and loss of ...
Chiu-Liang, Kuo +7 more
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Disease Models & Mechanisms, 2019 Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones +2 more
doaj +1 more source
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia [PDF]
, 2015 Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint ...
Apte, Suneel S. +4 more
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PLoS ONE, 2012 The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature.
Stuart A Cain +4 more
doaj +1 more source
The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancers. [PDF]
, 2014 G-protein coupled receptors (GPCRs) are among the most diverse and ubiquitous proteins in all of biology. The epidermal growth factor-seven span transmembrane (EGF-TM7) subfamily of adhesion GPCRs is a small subset whose members are mainly expressed on ...
Bloch, Orin +8 more
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Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]
, 2014 Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert +17 more
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BMC Musculoskeletal Disorders, 2022 Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility.
Gustavo Borges Laurindo de Azevedo +6 more
doaj +1 more source
Delivery of sTRAIL variants by MSCs in combination with cytotoxic drug treatment leads to p53-independent enhanced antitumor effects [PDF]
, 2013 Mesenchymal stem cells (MSCs) are able to infiltrate tumor tissues and thereby effectively deliver gene therapeutic payloads. Here, we engineered murine MSCs (mMSCs) to express a secreted form of the TNF-related apoptosis-inducing ligand (TRAIL), which ...
A Ashkenazi +46 more
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Elastic fiber assembly is disrupted by excessive accumulation of chondroitin sulfate in the human dermal fibrotic disease, keloid [PDF]
, 2009 Keloid is a fibrotic disease characterized by abnormal accumulation of extracellular matrix in the dermis. The keloid matrix contains excess collagen and glycosaminoglycans (GAGs), but lacks elastic fiber. However, the roles of these matrix components in
Ikeda, Mika +10 more
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The tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils [PDF]
, 1993 Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript.
Jimenez, Sergio A. +6 more
core +1 more source