Results 31 to 40 of about 19,229 (251)

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., Raynaud, Sandy, Mérida Berlanga, Ángel, Concepción, Juan Carlos de la   +3 more
openaire   +5 more sources

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. [PDF]

, 1996
Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules.
Buchberg, Arthur M., Christner, Paul J., Jimenez, Sergio A., Ma, Qing, Manne, Jayanthi, McGrath, Rodney, Moskow, John J., Siracusa, Linda D.   +7 more
core   +3 more sources

Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4

Frontiers in Genetics, 2021
Latent TGFβ binding protein-4 (LTBP4) is a multi-domain glycoprotein, essential for regulating the extracellular bioavailability of TGFβ and assembly of elastic fibre proteins, fibrillin-1 and tropoelastin.
Yasmene F. Alanazi, Michael P. Lockhart-Cairns, Stuart A. Cain, Thomas A. Jowitt, Anthony S. Weiss, Anthony S. Weiss, Anthony S. Weiss, Clair Baldock   +7 more
doaj   +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

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

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, Lynn Y. Sakai, Diane E. Mechling, Hans Peter Bächinger, Hans Peter Bächinger, Dieter P. Reinhardt, Douglas R. Keene, Bruce A. Boswell   +7 more
openaire   +2 more sources

Contrast-Enhanced Tissue Processing of Fibrillin-Rich Elastic Fibres for 3D Visualization by Volume Scanning Electron Microscopy

Methods and Protocols, 2021
Elastic fibres constitute an important component of the extracellular matrix and currently are the subject of intensive study in order to elucidate their assembly, function and involvement in cell–matrix interactions and disease.
Philip N. Lewis, Robert D. Young, R. B. Souza, Andrew J. Quantock, Keith M. Meek   +4 more
doaj   +1 more source

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, Lee Sui-Arteaga, Minwook Kim, Mitchell B. Schaffler, Karl J. Jepsen, Nancy Pleshko, Francesco Ramirez   +6 more
openalex   +4 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, Campens, Laurence, Casteleyn, Christophe, Cornillie, Pieter, Coucke, Paul, De Backer, Julie, De Paepe, Anne, De Vos, Filip, Deleye, Steven, Dietz, Harry, Essers, Jeroen, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, van Heijningen, Paula, Vandeghinste, Bert   +17 more
core   +4 more sources

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