Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in
CFTR, the cystic fibrosis transmembrane conductance regulator gene. People with CF …

The advent of the knowledge on human genetics, by the identification of disease-associated
variants, culminated in the understanding of human variability. With the genetic knowledge …

Summary Unc-93 homolog B1 (UNC93B1) is a key regulator of nucleic acid (NA)-sensing
Toll-like receptors (TLRs). Loss of NA-sensing TLR responses in UNC93B1-deficient …

Prognosis of patients with cystic fibrosis (CF) varies extensively despite recent advances in
targeted therapies that improve CF transmembrane conductance regulator (CFTR) function …

W1282X is the fifth most common cystic fibrosis transmembrane regulator (CFTR) mutation
that causes cystic fibrosis. Here, we investigated the utility of a small molecule …

Understanding the consequence of cystic fibrosis transmembrane conductance regulator
protein (CFTR) mutations is essential for prescribing appropriate drugs and providing …

The landscape of the diagnosis of cystic fibrosis (CF) has changed dramatically over the
past decade, as universal screening for CF has become a reality in all 50 states in the …

CFTR modulators promise to transform the therapeutic landscape in CF in a precision based
fashion. Areas of ongoing research include developing drugs for all mutation classes so that …

Cystic fibrosis (CF), a fatal genetic condition, causes thick, sticky mucus. It also causes
pancreatic dysfunction, bacterial infection, and increased salt loss. Currently available …

Cystic fibrosis (CF) is a life-shortening autosomal recessive disorder caused by mutations in
the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR …