Results 41 to 50 of about 18,239 (220)
Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development
Matrix Biology, 2002 The extracellular glycoproteins fibrillin-1 and fibrillin-2 are major components of connective tissue microfibrils. Mutations in the fibrillin-1 and fibrillin-2 genes are responsible for the phenotypical manifestations of Marfan syndrome and congenital contractural arachnodactyly respectively, which emphasizes their essential roles in developmental ...
Quondamatteo, Fabio +5 more
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Fibrillin-1 microfibrils influence adult bone marrow hematopoiesis [PDF]
Matrix Biology, 2016 We have recently demonstrated that fibrillin-1 assemblies regulate the fate of skeletal stem cells (aka, mesenchymal stem cells [MSCs]) by modulating TGFβ activity within the microenvironment of adult bone marrow niches. Since MSCs can also influence hematopoietic stem cell (HSC) activities, here we investigated adult hematopoiesis in mice with Cre ...
Silvia, Smaldone +4 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
doaj +1 more source
, 2020 Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander +14 more
core +1 more source
Processing of the Fibrillin-1 Carboxyl-terminal Domain [PDF]
Journal of Biological Chemistry, 1999 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.
T M, Ritty +4 more
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The evolution of extracellular fibrillins and their functional domains.
PLoS ONE, 2012 Fibrillins constitute the major backbone of multifunctional microfibrils in elastic and non-elastic extracellular matrices, and are known to interact with several binding partners including tropoelastin and integrins.
Adam Piha-Gossack +2 more
doaj +1 more source
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
doaj +1 more source
Proteomic analysis of the bovine and human ciliary zonule [PDF]
, 2016 PURPOSE: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies ...
Bassnett, Steven +3 more
core +2 more sources
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
Noe L, Charbonneau +8 more
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Characteristics of the tomato chromoplast revealed by proteomic analysis [PDF]
, 2010 Chromoplasts are non-photosynthetic specialized plastids that are important in ripening tomato fruit (Solanum lycopersicum) since, among other functions, they are the site of accumulation of coloured compounds.
Barsan, Cristina +9 more
core +3 more sources