ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Moreover, the successful spatiotemporal imaging of NE in ALI model mice also made it a promising new tool in clinical diagnosis for ALI and other lung diseases. 30626182 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE However, progression to large-scale or multicenter clinical trials has been hampered by the fact that the current gold standard methodology of evaluating airway NE inhibition, bronchoalveolar lavage (BAL), is invasive, difficult to standardize across sites and excludes those with severe lung disease. 29960875 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 AlteredExpression group BEFREE Lung disease in alpha-1-antitrypsin deficiency (AATD) results from dysregulated proteolytic activity, mainly by neutrophil elastase (HNE), in the lung parenchyma. 30633749 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Our results suggest that surface-bound NE activity may play an important role in the pathogenesis and serve as novel biomarker in CF lung disease. 29545279 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 AlteredExpression group BEFREE Lung disease in patients with CF is associated with neutrophil-dominated inflammation and elevated levels of the serine protease, neutrophil elastase (NE). 29401615 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE These results support a feed-forward cycle of NE-generated ceramide and ceramide-driven cytokine signaling that may be a potential target for intervention in lung disease typified by chronic neutrophilic inflammation. 29025713 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE <i>Pseudomonas</i> on BAL was associated with positive neutrophil elastase (OR 4.17, 95% CI 2.04-8.53; p<0.001), increased interleukin-8 (p<0.001), increased all baseline PRAGMA computed tomography scores (p<0.001), progression of PRAGMA computed tomography scores (p<0.05) and increased risk of respiratory exacerbations (incidence rate ratio 2.11, 95% CI 1.15-3.87; p=0.017).In children with CF OPSs only marginally change the probability of detecting lower airway <i>Pseudomonas</i> and are not associated with lung disease indices nor exacerbations risk. 29678944 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Areas covered: Measurement of NE activity has emerged as a promising biomarker strategy in inflammatory lung disease. 28854829 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE The Role of Neutrophil Elastase Inhibitors in Lung Diseases. 28442313 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 AlteredExpression group BEFREE The low AAT concentration can result in uninhibited neutrophil elastase activity in the lung, leading to pulmonary tissue damage and lung disease. 28752443 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE C5a levels also correlated positively with concentrations of other sputum markers associated with worse CF lung disease including neutrophil elastase (P < 0.001), myeloperoxidase activity (P = 0.006) and DNA concentration (P < 0.001). 28278205 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 AlteredExpression group BEFREE Various mutations in AAT cause alpha-1 antitrypsin deficiency (AATD), a rare hereditary disorder that results in liver disease due to accumulation of AAT aggregates and lung disease from excessive neutrophil elastase activity. 28752452 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE We used the Scnn1b-Tg mouse as a model of CF lung disease and determined effects of genetic deletion of NE (NE(-/-)) on the pulmonary phenotype. 24678594 2014
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group LHGDN The findings support a pre-eminent role for neutrophil elastase as the critical protease responsible for SP-D depletion in inflammatory lung disease. 18211966 2008
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Therefore, deficiency in a weak intracellular inhibitor of NE results in an acute inflammatory response that protects from P. aeruginosa but does not cause lung disease. 17878334 2007
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Human neutrophil elastase (NE) plays a critical role in lung disease, but the paucity of neutrophils in the atheromatous plaque has led to neglect of its potential role in vascular biology. 12771009 2003
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Excess neutrophil elastase is an important determinant of pulmonary disease in CF. alpha1-antitrypsin (AAT), also known as alpha1-proteinase inhibitor (alpha1PI) is a major modulator of elastase activity. 11313771 2001
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Our results suggest that UTI is applicable to patients with a variety inflammatory lung diseases in which NE plays a pivotal role. 9030096 1997