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New and emerging targeted therapies for cystic fibrosis
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70,000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
Lumacaftor and ivacaftor in the management of patients with cystic fibrosis: current evidence and future prospects.
Cystic fibrosis (CF) is a genetic disorder that causes multiorgan morbidity and premature death, most commonly from pulmonary dysfunction. Mutations in the CF transmembrane conductance regulator (CFTR) gene...
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.
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 phenotypes.
Beyond cystic fibrosis transmembrane conductance regulator therapy: a perspective on gene therapy and small molecule treatment for cystic fibrosis.
Cystic fibrosis (CF) is a life-limiting disease caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) activity. The recent advent of the FDA-approved CFTR modulator drug ivacaftor, alone or...
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.
In the last few years, there has been substantial progress in understanding cystic fibrosis (CF). CF was first described as a clinical syndrome in 1938, and an appreciation of its autosomal recessive nature followed shortly thereafter.