|
Pneumonia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic and acquired loss-of-function defect of the cystic fibrosis transmembrane conductance regulator (CFTR) compromise airway surface liquid homeostasis and mucociliary clearance (MCC), culminating in recurrent lung inflammation/infection.
|
31481727 |
2019 |
|
Pneumonia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here, we review the existing literature on the regulation of NKCC1 and CFTR by cytokines, and-based on the known involvement of NKCC1 and CFTR in lung edema and inflammation-speculate on the role of cytokine-dependent NKCC1/CFTR regulation for the pathogenesis and potential treatment of pulmonary inflammation and edema formation.
|
28439270 |
2017 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that the proteostasis regulator cysteamine, which rescues the function of the most common F508del-CFTR mutant and hence reduces lung inflammation in CF patients, can also repair the defects of CF macrophages, thus restoring both bacterial internalization and clearance through a process that involves upregulation of the pro-autophagic protein Beclin 1 and re-establishment of the autophagic pathway.
|
28079883 |
2017 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
She had been diagnosed with CF 8 years previously after being treated for recurrent Pseudomonas aeruginosa pneumonia and malnutrition based on sweat chloride concentrations and the CFTR protein gene mutation test.
|
29115094 |
2017 |
|
Pneumonia
|
0.200 |
Biomarker
|
disease |
BEFREE |
This drug has been shown in a recent clinical trial to decrease lung inflammation and improve lung function in CF patients by potentially restoring autophagy and allowing CFTR to be trafficked to the cell membrane.
|
27561233 |
2017 |
|
Pneumonia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.
|
27596159 |
2016 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we provide the proof-of-concept that this combination treatment restored CFTR function and reduced lung inflammation (P<0.001) in Phe508del/Phe508del or Phe508del/null-Cftr (but not in Cftr-null mice), provided that such mice were autophagy-competent.
|
27035618 |
2016 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung inflammation in Cftr(F508del) homozygous mice.
|
25350163 |
2014 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Loss of cystic fibrosis transmembrane conductance regulator (CFTR) function reduces chloride secretion and increases sodium uptake, but it is not clear why CFTR mutation also results in progressive lung inflammation and infection.
|
24500283 |
2014 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Caucasian and African American children with pneumonia were genotyped for the most common variants reported to affect cystic fibrosis transmembrane conductance regulator function, the p.508del mutation, the (TG)mTn variable repeat region, and the M470V polymorphism in the cystic fibrosis transmembrane conductance regulator gene.
|
22890249 |
2012 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CF (cystic fibrosis) is a recessive genetic disease caused by mutations of the CFTR (cystic fibrosis transmembrane conductance regulator), a cAMP-activated anion channel, exhibiting a multitude of clinical manifestations including lung inflammation/infection, pancreatic insufficiency/diabetes, intestinal obstruction and infertility in both sexes.
|
21476987 |
2011 |
|
Pneumonia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Discovering lower IGF1 levels in newborn pigs and humans indicates that the decrease is not solely a consequence of malnutrition or pulmonary inflammation and that loss of cystic fibrosis transmembrane conductance regulator function has a more direct effect.
|
21059918 |
2010 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data link the CFTR defect to autophagy deficiency, leading to the accumulation of protein aggregates and to lung inflammation.
|
20711182 |
2010 |
|
Pneumonia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Role of CFTR, Pseudomonas aeruginosa and Toll-like receptors in cystic fibrosis lung inflammation.
|
19614608 |
2009 |
|
Pneumonia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although genotype-phenotype correlation in cystic fibrosis patients has been defined, a clear relationship between the defect in the cystic fibrosis transmembrane regulator (CFTR) gene and pulmonary inflammation has not been established.
|
15672947 |
2004 |
|
Pneumonia
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|