ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Elastin fragments (EFs) have been detected in the serum of smokers with emphysema, and elastin-specific T cells have also been detected in the peripheral blood of smokers with emphysema. 31182478 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Impact of aging on inflammatory and immune responses during elastin peptide-induced murine emphysema. 30675803 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Elastin peptides (EP) can induce lung inflammation and emphysema. 31819402 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Elastin breakdown and the resultant loss of lung elastic recoil is a hallmark of pulmonary emphysema in susceptible individuals as a consequence of tobacco smoke exposure. 31234847 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Emphysema is caused by an elastase/anti-elastase imbalance leading to accelerated elastin degradation. 29558926 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 AlteredExpression disease BEFREE Chronic obstructive pulmonary disease (COPD) is characterized by high levels of protease activity leading to degradation of elastin followed by loss of elasticity of the lung and the development of emphysema. 30017196 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Since elastin concentrations are reduced in emphysematous lungs, the factor of divergence between emphysema and fibrosis seems to be the degree of elastin repair. 30220340 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE This causes a deficiency of the inhibitor of neutrophil elastase, which results in increased degradation of lung elastin and the development of pulmonary emphysema. 29461896 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Findings from experimental models suggest that some MMPs, such as MMP-12, may directly breakdown elastin, whereas others, particularly MMP-10 and MMP-28, promote the development of emphysema by influencing the proteolytic and inflammatory activities of macrophages. 29406250 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Chronic obstructive pulmonary disease (COPD) and particularly emphysema are characterized by stiffness of the aorta, due in part to accelerated elastin degradation in the lungs and aorta. 28488348 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE These data suggest that type VI collagen turnover and elastin degradation by neutrophil elastase are associated with COPD-induced inflammation (eosinophil-bronchitis) and emphysema. 28103932 2017
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 GeneticVariation disease BEFREE Chronic obstructive pulmonary disease and emphysema are associated with increased elastin peptides (EP) production because of excessive breakdown of lung connective tissue. 28572155 2017
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 AlteredExpression disease BEFREE In addition, we show that <i>Vangl2<sup>Lp/+</sup></i> lungs exhibit many of the hallmarks of tissue damage, including an altered macrophage population, abnormal elastin deposition and elevated levels of the elastin-modifying enzyme, <i>Mmp12</i>, all of which are observed in emphysema. 28237967 2017
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease CTD_human A comparative study of matrix remodeling in chronic models for COPD; mechanistic insights into the role of TNF-α. 25106431 2014
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Patients with COPD have increased skin elastin degradation compared with controls, which is related to emphysema severity and arterial stiffness. 22374923 2012
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 GeneticVariation disease BEFREE We postulate that hemizygosity at the elastin gene locus may increase susceptibility towards the development of COPD and emphysema in subjects with WBS. 20186780 2010
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 GeneticVariation disease BEFREE Heterozygous elastin gene mutations cause autosomal dominant cutis laxa associated with emphysema and aortic aneurysms. 20600892 2010
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 AlteredExpression disease BEFREE Mechanical testing demonstrates that lungs with low levels of elastin experience greater tissue strains for any given tissue stress compared with wild-type lungs, implying that force-mediated propagation of lung injury through alveolar wall failure may worsen the emphysema after an initial enzymatic insult. 17142349 2007
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE In addition to the normal 68 kDa tropoelastin (TE) protein, an abnormal, 120 kDa polypeptide was detected in the proband and her affected daughter in a CL family characterized by hernias and unusually severe and early-onset pulmonary disease including bronchiectasis and pulmonary emphysema. 15955094 2005
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE Through a global analysis of pulmonary gene expression in the lungs of mice lacking this integrin (Itgb6 null mice) we have identified a marked induction of macrophage metalloelastase (Mmp12)--a metalloproteinase that preferentially degrades elastin and has been implicated in the chronic lung disease emphysema. 12634787 2003
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.400 Biomarker disease BEFREE It degrades a variety of extracellular matrix proteins including elastin in vitro and causes emphysema when administered by tracheal insufflation to hamsters. 1400430 1992