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In this report we describe a three-generation family suffering from supravalvular aortic stenosis, various other arterial stenoses, sudden death, and intracranial aneurysms. A frameshift mutation in exon 12 of the elastin gene, not described before, was detected in the affected family members.
Data show that skin aging is associated with the decomposition of elastin fibers, which is more pronounced in sun-exposed tissue.
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastin expression and elastogenesis in Schimke immuno-osseous dysplasia.
Neutrophil elastase (show ELANE Proteins) degraded elastin fragments are increased in the serum of patients with idiopathic pulmonary fibrosis and lung cancer compared to controls.
Data suggest that MFAP4 (microfibrillar-associated protein 4 (show MFAP4 Proteins)) binds tropoelastin, fibrillin-1 (show FBN1 Proteins)/2, and elastin cross-linking amino acid desmosine; MFAP4 (show MFAP4 Proteins) co-localizes with fibrillin-1 (show FBN1 Proteins)-positive fibers; MFAP4 (show MFAP4 Proteins) actively promotes tropoelastin self-assembly.
In asthma, MMP-1 (show MMP1 Proteins) and MMP-2 (show MMP2 Proteins) mediate IL-13 (show IL13 Proteins)-induced suppression of ELN expression in airway fibroblasts.
Current knowledge about elastin peptides relevant to cardiovascular pathologies to further delineate their potential application in cardiovascular disease. [Review]
elastin may be important for plaque stability
Data suggest that cross-linking involving desmosine and isodesmosine residues in human tropoelastin and bovine elastin contributes to long-term stability of these proteins.
Studies indicate that the low sequence complexity, phase behavior, and elastic properties make elastin-like polypeptides (ELPs) an interesting intrinsically disordered proteins (IDP).
Elevations of whole lung HMGB1 (show HMGB1 Proteins) level were associated with impaired alveolar development and aberrant elastin production in 85% O2-exposed newborn lungs.
Eln was ubiquitously present, with enrichment in regions with cardiomyocyte differentiation, while there was an inverse correlation between ColI and cardiomyocyte differentiation.
Lung histology revealed aberrant elastin production and impaired lung septation in oxygen-exposed lungs, while tropoelastin, integrin alphav, fibulin-1 (show FBLN1 Proteins), fibulin-2 (show FBLN2 Proteins) and fibulin-4 (show FBLN4 Proteins) gene expression were elevated.
Data suggest that expression of elastin in uterus, vagina, and bladder is down-regulated both in naturally aging mice and in mouse model of accelerated ovarian aging; such down-regulation may lead to pelvic floor disorders.
Data indicate significantly reduced volumetric density of elastin and collagen and thinner skin dermis were observed in Marfan mice.
These results suggest that elastin haploinsufficiency adversely impacts pulmonary angiogenesis.
The increased levels of elastin, type V collagen and tenascin C (show TNC Proteins) are probably the result of increased expression by fibroblastic cells; reversely, elastin influences myofibroblast differentiation.
Compared to control SMCs, the modulus of Eln-/- SMCs is reduced by 40%, but is unchanged in Fbln4 (show FBLN4 Proteins)-/- SMCs. The Eln-/- SMC (show DYM Proteins) modulus is rescued by soluble or alpha elastin treatment.
Elastin haploinsufficiency impedes the progression of arterial calcification in MGP (show MGP Proteins)-deficient mice.
Fstl1 (show FSTL1 Proteins) is crucial for elastin expression and deposition in mesenchyme during lung alveologenesis
Data suggest that cross-linking involving desmosine and isodesmosine residues in bovine elastin and human tropoelastin contributes to long-term stability of these proteins.
Immersing elastin in various glycerol-water mixtures, we observe at room temperature that the protein mobility is higher for lower glycerol fractions in the solvent and, thus, lower solvent viscosity.
domain 36 of tropoelastin contributes to the binding to fibrillin-1 (show FBN1 Proteins) and microfibril-associated glycoprotein through two cysteine residues and Lysine-Arginine-Lysine-Arginine sequence, resulting in the promotion of elastic fiber assembly.
Biaxial force-controlled experiments were used to quantify regional variations in the anisotropy and nonlinearity of elastin isolated from bovine aortic tissues proximal and distal to the heart.
In cases of vascular calcification, the decreased expression of tropoelastin may be partially responsible for decreased vascular elasticity and also for the decreased formation of new elastic fibers.
tropoelastin has domains that mediate elastin deposition in vitro and in vivo
B-Myb (show MYBL2 Proteins) represses SMC (show DYM Proteins) elastin gene expression and cyclin A (show CCNA2 Proteins) plays a role in the developmental regulation of elastin gene expression in the aorta
self-association and oxidation by lysyl oxidase (show LOX Proteins) precedes tropoelastin deposition onto microfibrils; the entire molecule of tropoelastin is required for this following maturation process
analysis of functional inactivation of the tropoelastin carboxy-terminal domain in cross-linked elastin
A biomechanical model of the common carotid artery predicts that the majority of elastin is in-series with vascular smooth muscle (74 +/-8%), thus only about one-fourth of elastin acts in parallel to the vascular smooth muscle within the arterial wall.
This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene.
, elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)