A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. [PDF]
, 2017 Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1.
Bellacchio, Emanuele +11 more
core
Protein Interaction Studies of MAGP-1 with Tropoelastin and Fibrillin-1 [PDF]
, 2001 Sacha A. Jensen +3 more
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Proteomic fingerprints of damage in extracellular matrix assemblies
Matrix Biology Plus, 2020 In contrast to the dynamic intracellular environment, structural extracellular matrix (ECM) proteins with half-lives measured in decades, are susceptible to accumulating damage.
Alexander Eckersley +9 more
doaj
Latent TGFbeta binding protein-1 and fibrillin-1 in human capsular opacification and in cultured lens epithelial cells [PDF]
, 2001 Shizuya Saika
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Versican Interacts with Fibrillin-1 and Links Extracellular Microfibrils to Other Connective Tissue Networks [PDF]
, 2002 Zenzo Isogai +5 more
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Homo- and Heterotypic Fibrillin-1 and -2 Interactions Constitute the Basis for the Assembly of Microfibrils [PDF]
, 2002 Guoqing Lin +6 more
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Endothelial and smooth muscle cell interactions with a PCL-PU composite vascular scaffold with potential for bioactive release [PDF]
, 2006 Paper discussing endothelial and smooth muscle cell interactions with a PCL-PU composite vascular scaffold with potential for bioactive ...
Black, Richard +2 more
core
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer [PDF]
, 2002 Massimo Caputi +2 more
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The Structural Basis of Elasticity in Fibrillin-Based Microfibrils [PDF]
, 2004 M. Amin Arnaout
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