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.
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7.
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non?pathogenic variants described in association with...
As the life expectancy of cystic fibrosis (CF) patients continues to increase, and more patients become adults with a chronic disease, researching the impact of the disorder on male and female infertility has become increasingly important.
Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry.
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.
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.
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...
The spectrum of conditions caused by abnormal CFTR function is broad – from ‘classic’ cystic fibrosis (CF) to single organ conditions termed CFTR-related disorders.
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...