Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Recent progress in the development of drugs to correct CFTR deficiency thus may be decisive in the control of P. aeruginosa lung infection. 30620748 2019
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Moreover, massive evidences show that defective CFTR gives rise to extracellular GSH level decrease and elevated glucose concentrations in airway surface liquid (ASL), thus encouraging lung infection by pathogens in the CF advancement. 31698802 2019
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE Cystic fibrosis (CF) is an inherited disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that promotes persistent lung infection and inflammation and progressive loss of lung function. 31262295 2019
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. 27709245 2017
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE The arrival of new cystic fibrosis transmembrane conductance-regulator (CFTR)-correcting therapies will bring more opportunities to prevent the disease, apart from only treating chronic lung infection. 27913761 2017
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Importantly, WT BMC delivery delayed Pseudomonas aeruginosa lung infection and increased survival of CFTR<sup>-/-</sup> recipients. 28187947 2017
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Cystic fibrosis is caused by a defective gene encoding a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), and is characterised by chronic lung infection resulting in inflammation and progressive lung damage that results in a reduced life expectancy. 27314455 2016
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE In CF, the loss of chloride transport caused by the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel gene results in dehydration, mucus plugging, and reduction of the airway surface liquid layer (ASL) height which favour chronic lung infection and neutrophil based inflammation leading to progressive lung destruction and early death of people with CF. 25866809 2015
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE Cystic fibrosis (CF) is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and is characterized by chronic pulmonary infections. 23617438 2013
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Cystic fibrosis is caused by a defective gene encoding a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), and is characterised by chronic lung infection resulting in inflammation and progressive lung damage that results in a reduced life expectancy. 24282073 2013
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Cystic fibrosis is caused by a defective gene encoding a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), and is characterised by chronic lung infection resulting in inflammation and progressive lung damage that results in a reduced life expectancy. 23076917 2012
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Understanding the multitude of effects of CFTR on mucosal physiology and susceptibility and progression of chronic lung disease, and how host immune responses fail to adequately control lung infection, will be essential for the development of improved therapies for CF. 22753926 2012
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE Neonatal CFTR-knockout ferrets demonstrated many of the characteristics of human CF disease, including defective airway chloride transport and submucosal gland fluid secretion; variably penetrant meconium ileus (MI); pancreatic, liver, and vas deferens disease; and a predisposition to lung infection in the early postnatal period. 20739752 2010
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 AlteredExpression group BEFREE We conclude that an intrinsic alteration of function is linked to the absence of CFTR from skeletal muscle, leading to dysregulated calcium homeostasis, augmented inflammatory/atrophic gene expression signatures, and increased diaphragmatic weakness during pulmonary infection. 19649303 2009
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE Microbial lung infections are the major cause of morbidity and mortality in the hereditary metabolic disorder cystic fibrosis, yet the molecular mechanisms leading from the mutation of cystic fibrosis transmembrane conductance regulator (CFTR) to lung infection are still unclear. 18376404 2008
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Resistance to Pseudomonas aeruginosa chronic lung infection requires cystic fibrosis transmembrane conductance regulator-modulated interleukin-1 (IL-1) release and signaling through the IL-1 receptor. 17283089 2007
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE Cystic fibrosis is caused by a defective gene encoding a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), and is characterised by chronic lung infection resulting in inflammation and progressive lung damage that results in a reduced life expectancy. 17443603 2007
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE These data suggest that mutations in the CFTR in men with CBAVD, in addition to causing infertility, lead to subclinical bacterial pulmonary infection and inflammation consistent with mild CF. 14551163 2004
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE A central question is how defective CFTR function in CF leads to chronic lung infection and deterioration of lung function. 12475759 2003
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE CFTR mutations and host susceptibility to Pseudomonas aeruginosa lung infection. 11834374 2002
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE However, the molecular mechanism by which the deltaF508-CFTR protein facilitates pulmonary infection and inflammation remains unclear. 11934265 2002
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 GeneticVariation group BEFREE Dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) is the main cause of fetal lung infection in cystic fibrosis patients. 10437775 1999
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.100 Biomarker group BEFREE The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride ion channel, but its relationship to the primary clinical manifestation of CF, chronic Pseudomonas aeruginosa pulmonary infection, is unclear. 9342367 1997