Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis
transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a …

Several genes have been demonstrated to affect disease severity in CF. Furthermore, it is
likely that gene–gene and gene–environment interactions can explain a substantial portion …

The mechanisms responsible for the determination of phenotypes are still not well
understood; however, it has become apparent that modifier genes must play a considerable …

Lung disease is the major cause of morbidity and mortality of cystic fibrosis (CF), an
autosomal recessive disease caused by mutations in CF transmembrane-conductance …

Our understanding of cystic fibrosis (CF) has grown exponentially since the discovery of the
cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989. With evolving …

Cystic fibrosis (CF) is recognized as a single gene disorder. However, a considerable
diversity in its clinical phenotype has been documented since the description of the disease …

Increased activity of the epithelial sodium channel (ENaC) in the respiratory airways
contributes to the pathophysiology of cystic fibrosis (CF), a genetic disease caused by …

Understanding the causes of variation in clinical manifestations of disease should allow for
design of new or improved therapeutic strategies to treat the disease. If variation is caused …

Background Mutation of the cystic fibrosis transmembrane-conductance regulator (CFTR)
causes cystic fibrosis (CF) but not all CF aspects can easily be explained by deficient ion …

Background The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical
chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been …