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

A characteristic feature of the human airway epithelium is the presence of ciliated cells
bearing motile cilia, specialized cell surface projections containing axonemes composed of …

The airways of patients with cystic fibrosis are colonized with diverse bacterial communities
that change dynamically during pediatric years and early adulthood. Staphylococcus aureus …

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause a
characteristic defect in epithelial ion transport that plays a central role in the pathogenesis of …

Rationale: Chronic bronchitis (CB) is characterized by persistent cough and sputum
production. Studies were performed to test whether mucus hyperconcentration and …

In utero, fetal lung epithelial cells actively secrete Cl− ions into the lung air spaces while Na+
ions follow passively to maintain electroneutrality. This process, driven by an …

Cystic fibrosis is the most common genetically determined, life-limiting disorder in
populations of European ancestry. The genetic basis of cystic fibrosis is well established to …

Chronic obstructive pulmonary disease (COPD) is one of the prevalent causes of worldwide
mortality and encompasses two major clinical phenotypes, ie, chronic bronchitis (CB) and …

Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance
Regulator (CFTR) gene resulting in abnormal protein function. Recent advances of targeted …

Mucociliary clearance (MCC) is an important innate defense mechanism that continuously
removes inhaled pathogens and particulates from the airways. Normal MCC is essential for …