|
Dehydration
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Cystic fibrosis (CF) is a disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) that in the airways result in reduced Cl<sup>-</sup> secretion and increased Na<sup>+</sup> absorption, airway surface liquid (ASL) dehydration, decreased mucociliary clearance, infection and inflammation leading to lung injury.
|
31344409 |
2019 |
|
Dehydration
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Dysfunctional CFTR may upregulate the epithelial Na<sup>+</sup> channel (ENaC), further exacerbating dehydration.
|
30190268 |
2018 |
|
Dehydration
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Absence of functional cystic fibrosis transmembrane conductance regulator (CFTR) alters anion transport across CF airway epithelial cells and ultimately results in dehydration of the airway surface liquid.
|
29999593 |
2018 |
|
Dehydration
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
In CF airways, the lack of CFTR and increased ENaC activity lead to ASL/mucus dehydration that causes mucus obstruction, neutrophilic infiltration, and chronic bacterial infection.
|
30028216 |
2018 |
|
Dehydration
|
0.100 |
GeneticVariation
|
phenotype |
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 |
|
Dehydration
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Defective CFTR leads to epithelial surface dehydration, altered pH/electrolyte composition and mucin concentration.
|
24685676 |
2014 |
|
Dehydration
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Cystic fibrosis (CF) is caused by the loss of the cystic fibrosis transmembrane conductance regulator (CFTR) function and results in a respiratory phenotype that is characterized by dehydrated mucus and bacterial infections that affect CF patients throughout their lives.
|
22492740 |
2012 |
|
Dehydration
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
In vivo and in vitro studies demonstrated that CS rapidly decreased CFTR activity, leading to airway surface liquid (ASL) volume depletion (i.e., dehydration).
|
21990373 |
2012 |
|
Dehydration
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Underlying mutations in the CFTR (CF transmembrane conductance regulator) gene cause deregulation of ion transport and subsequent dehydration of the airway surface liquid, producing a viscous mucus layer on the airway surface of CF patients.
|
19614608 |
2009 |
|
Dehydration
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
It is usually stated that in cystic fibrosis (CF), CF transmembrane conductance regulator protein abnormality results in imbalanced ion composition and dehydration of ASL, leading to abnormal rheologic and transport properties.
|
10100991 |
1999 |