Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 GeneticVariation disease BEFREE We used a mouse model of postnatal ascending aortic aneurysms ( Fbln4<sup>SMKO</sup>; termed SMKO [SMC-specific knockout]), in which deletion of Fbln4 (fibulin-4) leads to disruption of the elastin-contractile units caused by a loss of elastic lamina-SMC connections. 30355232 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 GeneticVariation disease BEFREE Heterozygous elastin gene mutations cause autosomal dominant cutis laxa associated with emphysema and aortic aneurysms. 20600892 2010
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE AAA is characterized by the breakdown of elastin within the aortic tunica media, leading to aortic dilatation and rupture. 31595818 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE Aortic diameter in the DM+AA group was less than that in the AA group, and elastin fragmentation grade of the aortic wall was reduced in the DM+AA group. 31096818 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE AAA lesions in Mcpt4(-/-) mice had fewer inflammatory cells and less apoptosis, angiogenesis, and elastin fragmentation than those of WT mice. 19720934 2009
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm. 28385916 2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE Interestingly, the elastin-contractile unit, which is an anatomical and functional unit connecting extracellular elastic laminae to the intracellular SMC contractile filaments, via cell surface receptors, has been shown to play a critical role in the mechanosensing of SMCs, and many genes identified in TAAs encode for proteins along this continuum. 28943527 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE Elastin and collagen fibers were more highly aligned in BAV-NA and BAV-TAA cases than in TAV-TAA cases, whereas TAV-TAA cases were more disorganized than TAV-NA cases.α-Elastin content was unchanged. 23764410 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE The substantial production of elastin and elastic fibre-like structures that we observed in the AAA neointima, which was not observed elsewhere within AAA tissues, provides a unique opportunity to capitalize on this autoregenerative phenomenon and direct it from the standpoint of matrix organization towards restoring healthy aortic matrix structure, mechanics and function. 24799390 2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE WT TAAs demonstrated elastin fragmentation, smooth muscle cell loss, macrophage infiltration, and increased IL-1β expression. 25200056 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 Biomarker disease BEFREE Taking into consideration the continuously ongoing challenges during life, there is a physiological degradation of elastin into elastin-derived peptides which is accentuated in several disease states such as obstructive pulmonary diseases, atherosclerosis and aortic aneurysm. 31295577 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 AlteredExpression disease BEFREE BM-MSCs and MSCs-CM significantly attenuated matrix metalloproteinase (MMP)-2 and MMP-9 expression, aortic elastin degradation and AA growth at the site of AA. 31583844 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 AlteredExpression disease BEFREE Collagen and elastin gene expression in aortic aneurysms. 1641765 1992
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 AlteredExpression disease BEFREE CAM suppressed the progression and rupture of AA through the suppression of inflammatory macrophage infiltration, a reduction in MMP-2 and MMP-9 activity, and the inhibition of elastin degradation associated with the suppression of NF-κB phosphorylation. 29550174 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.200 AlteredExpression disease BEFREE Several investigators have reported reduced elastin content and increased elastase activity in infrarenal aortic aneurysms. 8433437 1993