Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …

More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator
(CFTR) have been described that confer a range of molecular cell biological and functional …

The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …

Standard follow-up and symptomatic treatment have allowed most patients with cystic
fibrosis to live to young adulthood. However, many patients still die prematurely from …

Background New drugs that improve the function of the cystic fibrosis transmembrane
conductance regulator (CFTR) protein with discreet disease-causing variants have been …

Objectives Study of currently approved drugs and exploration of future clinical development
pipeline therapeutics for cystic fibrosis, and possible limitations in their use. Methods …

The lung is the organ with the highest vascular density in the human body. It is therefore
perceivable that the endothelium of the lung contributes significantly to the circulation of …

Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on
chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas …

Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance
is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation …