Results 51 to 60 of about 23,678,950 (225)
In Vivo Studies of Mutant Fibrillin-1 Microfibrils [PDF]
Journal of Biological Chemistry, 2010 In humans, mutations in fibrillin-1 result in a variety of genetic disorders with distinct clinical phenotypes. While most of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to clinical features unrelated to Marfan syndrome. Pathogenesis of Marfan syndrome is currently thought to be driven by mechanisms due to
Gerhard Sengle +8 more
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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 ...
Zenzo Isogai +7 more
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ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation [PDF]
Journal of Biological Chemistry, 2010 ADAMTS (A disintegrin and metalloproteinase with thrombospondin motifs)-like (ADAMTSL) proteins, a subgroup of the ADAMTS superfamily, share several domains with ADAMTS proteinases, including thrombospondin type I repeats, a cysteine-rich domain, and an ADAMTS spacer, but lack a catalytic domain.
Lynn Y. Sakai +12 more
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Frontiers in Cardiovascular Medicine, 2021 Medial deterioration leading to thoracic aortic aneurysms arises from multiple causes, chief among them mutations to the gene that encodes fibrillin-1 and leads to Marfan syndrome.
Cristina Cavinato +7 more
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Processing and assembly of fibrillin‐1
International Journal of Experimental Pathology, 2000 Fibrillins are extracellular matrix proteins of ˜350 kD. They have a complex multidomain structure and are the major components of microfibrillar structures in both elastic and nonelastic tissues (Sakai et al. 1986; Kielty & Shuttleworth 1995). Mutations in the FBN-1 gene cause Marfan Syndrome, which is a heritable connective tissue disease with an ...
C. Adrian Shuttleworth +2 more
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"Computational Analysis of the Effect of fbn1 Gene Mutations in the Marfan Syndrome" [PDF]
Iranian Journal of Public Health, 2004 Fibrillin is a large glycoprotein synthesized in the tissues involved in Marfan syndrome, and known to be involved in tissue elasticity. The syndrome is corresponded to fbn1 gene and is characterized by cardiovascular, ocular, and skeletal abnormalities.
H Mohabatkar
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Circulating fibrillin fragment concentrations in patients with and without aortic pathology
JVS - Vascular Science, 2022 Objective: Fragments of fibrillin-1 and fibrillin-2 will be detectable in the plasma of patients with aortic dissections and aneurysms. We sought to determine whether the plasma fibrillin fragment levels (PFFLs) differ between patients with thoracic ...
Eric J. Carlson, PhD +11 more
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Frontiers in Aging Neuroscience, 2016 Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon.
Betti Giusti, Guglielmina Pepe
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Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome.
PLoS ONE, 2023 Fibrillin-1 is a pivotal structural component of the kidney's glomerulus and peritubular tissue. Mutations in the fibrillin-1 gene result in Marfan syndrome (MFS), an autosomal dominant disease of the connective tissue.
Rodrigo Barbosa de Souza +8 more
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