Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.050 Biomarker disease BEFREE To determine a potential role for CFTR dysfunction in the development of emphysema, Cftr<sup>+/+</sup> (Wild-type; WT), Cftr<sup>+/-</sup> (heterozygous), and Cftr<sup>-/-</sup> (knock-out; KO) mice were aged or exposed to cigarette smoke and analyzed for airspace enlargement. 31477092 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.050 AlteredExpression disease BEFREE We verified using the preclinical COPD-emphysema murine model that chronic CS (Ch-CS)-induced inflammation (interleukin [IL]-6/IL-1β levels), aggresome formation (perinuclear coexpression/colocalization of ubiquitinated proteins [Ub] and p62 [impaired autophagy marker], and CFTR), oxidative/nitrosative stress (p-Nrf2, inducible nitric oxide synthase [iNOS], and 3-nitrotyrosine expression), apoptosis (caspase-3/7 activity), and alveolar airspace enlargement (Lm) are significantly (p < 0.05) alleviated by augmenting airway GSNO levels. 28006950 2017
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.050 Biomarker disease BEFREE In addition, proposed nano-based autophagy induction strategy can also allow rescue of cigarette smoke (CS) induced acquired-CFTR dysfunction seen in chronic obstructive pulmonary disease (COPD)-emphysema subjects. 27561233 2017
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.050 GeneticVariation disease BEFREE Our results indicate that inhibition of de novo ceramide synthesis may be effective in disease states with low CFTR expression like emphysema and chronic lung injury but not in complete absence of lipid-raft CFTR as in ΔF508-cystic fibrosis. 21135173 2011
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
0.050 GeneticVariation disease BEFREE These results confirm the involvement of the CFTR gene in disseminated bronchiectasis of unknown origin, and suggest a possible role for CFTR gene mutations in sarcoidosis, and for the 5T allele in pulmonary emphysema. 9921909 1998