Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
|
19309154 |
2009 |
Pulmonary Cystic Fibrosis
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
DeltaF508-CFTR causes constitutive NF-kappaB activation through an ER-overload response in cystic fibrosis lungs.
|
11934265 |
2002 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
BEFREE |
In cystic fibrosis, lung function improves with therapy that targets specific molecular abnormalities in the cystic fibrosis transmembrane conductance regulator to increase the probability that this chloride channel is open.
|
28208047 |
2017 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Proteasome-dependent pharmacological rescue of cystic fibrosis transmembrane conductance regulator revealed by mutation of glycine 622.
|
18230692 |
2008 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770.
|
19846789 |
2009 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
BEFREE |
Role of CFTR, Pseudomonas aeruginosa and Toll-like receptors in cystic fibrosis lung inflammation.
|
19614608 |
2009 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.
|
17290305 |
2007 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Cystic fibrosis in 65- and 67-year-old siblings. Clinical feature and nasal potential difference measurement in patients with genotypes F508del and 2789+5G-->A.
|
16763370 |
2006 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells.
|
1718974 |
1991 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Cystic fibrosis transmembrane regulator potentiators as promising cystic fibrosis therapies.
|
21303308 |
2011 |
Pulmonary Cystic Fibrosis
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The variability of cystic fibrosis lung disease and the variable expressivity of mild CFTR alleles complicate genetic counseling for this autosomal recessive disorder.
|
19092437 |
2008 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.
|
21083385 |
2010 |
Pulmonary Cystic Fibrosis
|
0.390 |
AlteredExpression
|
disease |
BEFREE |
Recombinant adenoviruses are being evaluated for gene therapy of cystic fibrosis lung disease with the goal of reconstituting the expression of the cystic fibrosis transmembrane conductance regulator in pulmonary epithelia by direct administration of the virus into the airway.
|
7545239 |
1995 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3- secretion in cystic fibrosis bile ductular cells.
|
11786964 |
2002 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
A mouse model for the delta F508 allele of cystic fibrosis.
|
7560099 |
1995 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
BEFREE |
Delivery of a normal copy of CFTR cDNA to airway epithelia may provide a novel treatment for cystic fibrosis lung disease.
|
10602380 |
1999 |
Pulmonary Cystic Fibrosis
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Small molecules that correct the folding defects and enhance surface localization of the F508del mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) comprise an important therapeutic strategy for cystic fibrosis lung disease.
|
27732613 |
2016 |
Pulmonary Cystic Fibrosis
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Emerging data indicate that non-CFTR genetic variants contribute to at least half the variability in pulmonary disease severity, and genetic variation in transforming growth factor beta1 clearly modifies the severity of cystic fibrosis lung disease.
|
17053491 |
2006 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis.
|
11401894 |
2001 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant.
|
21602569 |
2011 |
Pulmonary Cystic Fibrosis
|
0.390 |
AlteredExpression
|
disease |
BEFREE |
These findings raise the possibility that infection and inflammation may progress independently of CFTR activity once cystic fibrosis lung disease is established.
|
28222269 |
2017 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
|
16463024 |
2006 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.
|
17347447 |
2007 |
Pulmonary Cystic Fibrosis
|
0.390 |
Biomarker
|
disease |
CTD_human |
Restoration of W1282X CFTR activity by enhanced expression.
|
17541014 |
2007 |