Results 81 to 90 of about 10,219 (178)

The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule

Cells
Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (FBN1).
Pooja Rathaur, Juan Rodriguez, John Kuchtey, Samuel Insignares, Wendell B. Jones, Rachel W. Kuchtey, Steven Bassnett   +6 more
doaj   +1 more source

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.

PLoS Genetics, 2015
Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause ...
Gerhard Sengle, Valerie Carlberg, Sara F Tufa, Noe L Charbonneau, Silvia Smaldone, Eric J Carlson, Francesco Ramirez, Douglas R Keene, Lynn Y Sakai   +8 more
doaj   +1 more source

Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis

Scientific Reports
Aqueous humor (AH) and blood levels of transforming growth factor β (TGFβ) are elevated in idiopathic primary open angle glaucoma (POAG) representing a disease biomarker of unclear status and function.
James C. Tan, MinHee K. Ko, Jeong-Im Woo, Kenneth L. Lu, Jonathan A. Kelber   +4 more
doaj   +1 more source

Immobilized metal affinity chromatography co-purifies TGF-β1 with histidine-tagged recombinant extracellular proteins.

PLoS ONE, 2012
Extracellular recombinant proteins are commonly produced using HEK293 cells as histidine-tagged proteins facilitating purification by immobilized metal affinity chromatography (IMAC).
Jasvir Kaur, Dieter P Reinhardt
doaj   +1 more source

Multi-exon deletions of the FBN1 gene in Marfan syndrome

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, Liu Wanguo, Brenn Thomas, Furthmayr Heinz, Francke Uta   +4 more
doaj   +1 more source

New insights into the structural role of EMILINs within the human skin microenvironment

Scientific Reports
Supramolecular 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, Fady Marcous, Alexandra V. Zuk, Douglas R. Keene, Sara F. Tufa, Laura M. Mosquera, Paola Zigrino, Cornelia Mauch, Beate Eckes, Katrien Francois, Julie De Backer, Nicolas Hunzelmann, Pia Moinzadeh, Thomas Krieg, Bert Callewaert, Gerhard Sengle   +15 more
doaj   +1 more source

Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity. [PDF]

Front Med (Lausanne)
Wang NM, Cheng ZB, Yu X, Wang YN, Wang ZX, Yao RC, Jin X, Jin JY.   +7 more
europepmc   +1 more source

Could the Phenotypic Outcomes of Genetic Variability in Cells Operating in Mechanically Dynamic Environments be Influenced by a Disrupted "Cell-ECM" Relationship? Using Cystic Fibrosis and Marfan Syndrome as an Example. [PDF]

Bioessays
Hart DA.
europepmc   +1 more source

Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome. [PDF]

JACC Basic Transl Sci
De Rycke K, Horvat M, Caboor L, Vermassen P, De Smet G, Lobbestael S, Santana Silva M, Steyaert W, Van Impe M, Segers P, De Backer J, Sips P.   +11 more
europepmc   +1 more source

Fibrillin-2 [PDF]

, 2020
openaire   +1 more source