Results 101 to 110 of about 1,871 (159)
Brazilian Journal of Cardiovascular Surgery, 2003 PURPOSE: Bicuspid aortic valve (BAV) is associated with increased prevalence of annulo-aortic ectasia, dissection and ascending aortic aneurysm. This study was undertaken to compare the amount of fibrillin-1 and elastin in the media of great vessels of ...
Mauro Paes Leme +8 more
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Isolation of rat fibrillin-1 cDNA and its relevance in metanephric development
, 1998 The role of fibrillin-1 in metanephrogenesis was investigated. Fibrillin-1 cDNA was isolated from the rat kidney cDNA library and sequenced, and its spatiotemporal expression was studied.
Jun Wada +6 more
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Multi-exon deletions of the
BMC Medical Genetics, 2001 Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a ...
Schrijver Iris +4 more
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017 BackgroundMarfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin‐1 (FBN1); however, the mechanisms through which fibrillin‐1 deficiency causes MFS‐associated aortopathy are uncertain. Recently, attention was focused on the hypothesis
Hao Wei +7 more
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NMR studies of cbEFG-like domains from human fibrillin-1
, 2000 The calcium binding epidermal growth factor-like (cbEGF) 12-13 domain pair from human fibrillin-1 was the focus of studies for this dissertation. Various nuclear magnetic resonance (NMR) spectroscopy techniques were employed to analyse the calcium ...
Kristy Downing +2 more
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Morphologische Charakterisierung des renalen Phänotyps der Fibrillin-1-Knockout Maus
, 2011 The Marfansyndrome is an autosomal dominant inherited disease. The cause of the Marfansyndrome is a Fibrillin-1 mutation. Fibrillin-1 is the main constituent of the microfibrils. 20-30 % of Marfansyndrome are based on new mutations of this gene.
Ketecioglu, Cigdem
core
Clinical diagnostics of fibrillinopathies (type 1)
Российский кардиологический журнал, 2013 Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the ...
E. L. Trisvetova
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, 2005 Fibrillin microfibrils are widely distributed extracellular matrix assemblies that endow elastic and nonelastic connective tissues with long-range elasticity. They direct tropoelastin deposition during elastic fibrillogenesis and form an outer mantle for
Cay M. Kielty +7 more
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New insights into the structural role of EMILINs within the human skin microenvironment
Scientific ReportsSupramolecular extracellular matrix (ECM) networks play an essential role in skin architecture and function. Elastin microfibril interface-located proteins (EMILINs) comprise a family of three extracellular glycoproteins that serve as essential ...
Alvise Schiavinato +15 more
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Marfan syndrome: current perspectives
The Application of Clinical Genetics, 2016 Guglielmina Pepe,1,2 Betti Giusti,1,2 Elena Sticchi,1,2 Rosanna Abbate,1,2 Gian Franco Gensini,1–3 Stefano Nistri2,4 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center ...
Pepe G +5 more
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