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 …

With the 2019 breakthrough in the development of highly effective modulator therapy
providing unprecedented clinical benefits for over 90% of patients with cystic fibrosis who …

The predominant mutation causing cystic fibrosis, a deletion of phenylalanine 508 (Δ508) in
the cystic fibrosis transmembrane conductance regulator (CFTR), leads to severe defects in …

Background Cystic fibrosis transmembrane conductance regulator (CFTR) modulators
correct the basic defect caused by CFTR mutations. Improvements in health outcomes have …

Based on its clinical benefits, Trikafta—the combination of folding correctors VX-661
(tezacaftor), VX-445 (elexacaftor), and the gating potentiator VX-770 (ivacaftor)—was FDA …

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 …

Background The airways of patients with cystic fibrosis (CF) are highly complex, subject to
various environmental conditions as well as a distinct microbiota. Pseudomonas aeruginosa …

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

Advances over the past 25 years have revealed much about how the structural properties of
membranes and associated proteins are linked to the thermodynamics and kinetics of …

In order to survey a universe of major histocompatibility complex (MHC)-presented peptide
antigens whose numbers greatly exceed the diversity of the T cell repertoire, T cell receptors …