Results 41 to 50 of about 22,293 (293)
Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52
International Journal of Molecular Sciences, 2021 Marfan syndrome is one of the most common dominantly inherited connective tissue disorders, affecting 2–3 in 10,000 individuals, and is caused by one of over 2800 unique FBN1 mutations.
J. Cale +3 more
semanticscholar +1 more source
Arabidopsis thaliana plastoglobule‐associated fibrillin 1a interacts with fibrillin 1b in vivo [PDF]
FEBS Letters, 2014 Plant fibrillins are a well‐conserved protein family found in the plastids of all photosynthetic organisms, where they perform a wide range of functions. A number of these proteins have been suggested to be involved in the maintenance of thylakoids and the formation of plastoglobules, preventing their coalescence and favoring their clustering via an as‐
Gámez Arjona, Francisco M. +3 more
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Genetic testing in Marfan syndrome [PDF]
, 2016 Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core +1 more source
Biogenesis and function of fibrillin assemblies [PDF]
Cell and Tissue Research, 2009 Fibrillin-1 and fibrillin-2 are large cysteine-rich glycoproteins that serve two key physiological functions: as supporting structures that impart tissue integrity and as regulators of signaling events that instruct cell performance. The structural role of fibrillins is exerted through the temporal and hierarchical assembly of microfibrils and elastic ...
Lynn Y. Sakai, Francesco Ramirez
openaire +3 more sources
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
core +4 more sources
Calcium Determines the Shape of Fibrillin [PDF]
Journal of Biological Chemistry, 1997 Velocity sedimentation experiments using authentic fibrillin-1 demonstrated sedimentation coefficients of s20,w0 = 5.1 +/- 0.1 in the Ca2+ form and s20,w0 = 6.2 +/- 0.1 in the Ca2+-free form. Calculations based on these results and the corresponding molecular mass predicted a shortening of fibrillin by approximately 25% and an increase in width of ...
Lynn Y. Sakai +7 more
openaire +2 more sources
Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils [PDF]
Matrix Biology, 2011 The contribution of non-collagenous components of the extracellular matrix to bone strength is largely undefined. Here we report that deficiency of fibrillin-1 or fibrillin-2 microfibrils causes distinct changes in bone material and mechanical properties. Morphometric examination of mice with hypomorphic or null mutations in fibrillin-1 or fibrillin-2,
Emilio Arteaga‐Solis +6 more
openalex +4 more sources
Chronic tendon pathology: molecular basis and therapeutic implications [PDF]
, 2005 Tendons are frequently affected by chronic pain or rupture. Many causative factors have been implicated in the pathology, which until relatively recently was under-researched and poorly understood.
Riley, GP
core +1 more source
Fibrillin microfibrils in bone physiology [PDF]
Matrix Biology, 2016 The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in spite of representing a low abundance component of skeletal matrices.
Silvia Smaldone, Francesco Ramirez
openaire +2 more sources
"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
doaj +1 more source