Specialised CF care has led to a dramatic improvement in survival in CF: in the last four
decades, well above what was seen in the general population over the same period. With …

Newborn screening for cystic fibrosis (CF) offers the opportunity for early medical and
nutritional intervention that can lead to improved outcomes. Management of the …

Background Cystic fibrosis is an autosomal recessive disease caused by mutations in the
CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show …

Background Cystic fibrosis is a life-limiting disease that is caused by defective or deficient
cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is …

Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator
(CFTR) gene that impair the function of CFTR, an epithelial chloride channel required for …

Cystic fibrosis (CF) is a fatal genetic disease caused by mutations in the gene encoding the
CF transmembrane conductance regulator (CFTR), a protein kinase A (PKA)-activated …

The Neolithic and Bronze Age transitions were profound cultural shifts catalyzed in parts of
Europe by migrations, first of early farmers from the Near East and then Bronze Age herders …

BACKGROUND: The investigational CFTR potentiator ivacaftor (VX-770) increased CFTR
channel activity and improved lung function in subjects with CF who have the G551D CFTR …

Abstract Background Ivacaftor (KALYDECO™, VX-770) is a CFTR potentiator that increased
CFTR channel activity and improved lung function in patients age 6 years and older with CF …