Results 71 to 80 of about 10,140 (167)

Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of ...
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 more
wiley   +1 more source

Fibrillin-1 microfibril deposition is dependent on fibronectin assembly [PDF]

Journal of Cell Science, 2008
Newly deposited microfibrils strongly colocalise with fibronectin in primary fibroblasts. Microfibril formation is grossly inhibited by fibronectin depletion, but rescued by supplementation with exogenous cellular fibronectin. As integrin receptors are key determinants of fibronectin assembly, we investigated whether they also influenced microfibril ...
Kinsey, Rachel, Williamson, Matthew R., Chaudhry, Shazia, Mellody, Kieran T., McGovern, Amanda, Takahashi, Seiichiro, Shuttleworth, C. Adrian, Kielty, Cay M.   +7 more
openaire   +4 more sources

Extracellular matrix and proteolysis: mechanisms driving irreversible changes and shaping cell behavior

The FEBS Journal, Volume 293, Issue 13, Page 3788-3813, July 2026.
Irreversible ECM proteolysis by remodeling enzymes shapes development, homeostasis, and disease. ECM‐degrading proteases display cell specificity and are governed by shared mechanisms, exhibiting functional redundancy in generating matrikines, growth factors, and cytokines.
Inna Solomonov, Orit Kollet, Irit Sagi
wiley   +1 more source

A guide to the types, structures, and multifaceted functions of matrix metalloproteinases in cancer

The FEBS Journal, Volume 293, Issue 13, Page 3717-3757, July 2026.
Matrix metalloproteinases (MMPs) orchestrate cancer progression and metastasis through proteolytic and non‐proteolytic actions. By remodeling the tumor microenvironment, enhancing growth factor availability, and modulating cell behavior, MMPs promote proliferation, migration or invasion, and epithelial‐to‐mesenchymal transition. Alongside extracellular
Zoi Piperigkou, Sylvia Mangani, Spyros Kremmydas, Nikolaos E. Koletsis, Nikos K. Karamanos   +4 more
wiley   +1 more source

Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape

The FEBS Journal, Volume 293, Issue 13, Page 3991-4013, July 2026.
The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto, Naike Casagrande, Emanuele Di Siena, Greta Carobolante, Lucrezia Camicia, Giorgia Schinello, Samanta Muzzin, Enrica Timis, Paola Spessotto, Maurizio Mongiat   +9 more
wiley   +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

Proteolysis at the extracellular matrix interface: Molecular architects and regulators in health and disease

The FEBS Journal, Volume 293, Issue 13, Page 3758-3787, July 2026.
The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka, Matija Hrovatin, Bor Bokalj, Boris Turk   +3 more
wiley   +1 more source

Molecular evaluation of the great vessels of patients with bicuspid aortic valve disease Análise molecular dos grandes vasos da base em portadores de valva aórtica bicúspide

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, Tirone E. David, Jagdish Butany, Diponkar Banerjee, Eduardo S. Bastos, Sylvio C. Provenzano, Leôncio A. Feitosa, Henrique Murad, Monica M. Ferreira Magnanini   +8 more
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

Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling

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, Jie Hong Hu, Stoyan N. Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A. Dichek   +7 more
doaj   +1 more source