نتایج جستجو برای: fibrillin

تعداد نتایج: 907  

Journal: :The Journal of pathology 2010
Michael J Sherratt Christopher P Bayley Siobhan M Reilly Neil K Gibbs Christopher E M Griffiths Rachel E B Watson

Photoageing of human skin due to chronic exposure to ultraviolet radiation (UVR) is characterized histologically by extensive remodelling of the dermal elastic fibre system. Whilst enzymatic pathways are thought to play a major role in mediating extracellular matrix (ECM) degeneration in UV-exposed skin, the substrate specificity of UVR-up-regulated and activated matrix metalloproteinases (MMPs...

Journal: :Journal of Biological Chemistry 1997

Journal: :International Journal of Experimental Pathology 2008

Journal: :Lymphology 2000
R Gerli R Solito E Weber M Aglianó

Anchoring filaments are a characteristic feature of initial lymphatic vessels. They connect the abluminal membrane of endothelial cells to the surrounding elastic fibers. The main molecular component of anchoring filaments is fibrillin. Initial lymphatic vessels of human skin were stained with monoclonal antibodies to fibrillin, integrins alpha 2 beta 1, alpha 3 beta 1 and alpha v beta 3, vincu...

2010
Yoshinori Yamauchi Eichi Tsuruga Kazuki Nakashima Yoshihiko Sawa Hiroyuki Ishikawa

Elastic system fibers consist of microfibrils and tropoelastin. During development, microfibrils act as a template on which tropoelastin is deposited. Fibrillin-1 is the major component of microfibrils. It is not clear whether elastic fiber-associated molecules, such as fibulins, contribute to tropoelastin deposition. Among the fibulin family, fibulin-2, -4 and -5 are capable of binding to trop...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Lior Zilberberg Colin K L Phoon Ian Robertson Branka Dabovic Francesco Ramirez Daniel B Rifkin

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGFβ signaling. TGFβ is secreted from cells as a latent complex consisting of TGFβ, the TGFβ propeptide, and a molecule of latent TGFβ binding protein (LT...

Journal: :The Journal of biological chemistry 1999
T M Ritty T Broekelmann C Tisdale D M Milewicz R P Mecham

To investigate the processing and general properties of the fibrillin-1 carboxyl-terminal domain, three protein expression constructs have been developed as follows: one without the domain, one with the domain, and one with a mutation near the putative proteolytic processing site. The constructs have been expressed in two eukaryotic model systems, baculoviral and CHO-K1. Post-translational modi...

Journal: :Human molecular genetics 2014
Jillian G Buchan David M Alvarado Gabe E Haller Carlos Cruchaga Matthew B Harms Tianxiao Zhang Marcia C Willing Dorothy K Grange Alan C Braverman Nancy H Miller Jose A Morcuende Nelson Leung-Sang Tang Tsz-Ping Lam Bobby Kin-Wah Ng Jack Chun-Yiu Cheng Matthew B Dobbs Christina A Gurnett

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a rel...

Journal: :Investigative ophthalmology & visual science 2013
Yanrong Shi Yidong Tu Alicia De Maria Robert P Mecham Steven Bassnett

PURPOSE Here, we examined the development, composition, and structural organization of the ciliary zonule of the mouse. Fibrillin 1, a large glycoprotein enriched in force-bearing tissues, is a prominent constituent of the mouse zonule. In humans, mutations in the gene for fibrillin 1 (FBN1) underlie Marfan syndrome (MS), a disorder characterized by lens dislocation and other ocular symptoms. ...

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