Cheng et al., "Assessment of
cystic fibrosis transmembrane conductance regulator (CFTR) activity in CFTR-null mice after bone marrow transplantation," Proceedings of the National Academy of Sciences of the United States of America, vol.
Clinical outcomes in infants with
cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.
Cystic fibrosis is a genetic condition caused by a defect in the gene encoding the
cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.
Intracellular cGMP causes secretion of chloride and bicarbonate into the intestinal lumen, through activation of the
cystic fibrosis transmembrane conductance regulator, which results in increased intestinal fluid and accelerated transit.
ASL is comprised of a mucus layer and a periciliary layer.[sup][8] Ciliary beating and coughing propel ASL toward the upper airways thereby removing mucus and inhaled pathogens and particles.[sup][9] ASL thickness is regulated by active ion transport across epithelial cells.[sup][10] In cystic fibrosis (CF), mutations in the
cystic fibrosis transmembrane conductance regulator (CFTR) gene result in decreased chloride secretion, which leads to ASL dehydration, impaired mucus clearance, and airway inflammation and obstruction.[sup][11] Similar pathology was seen with ASL dehydration in mice with transgenic overexpression of the epithelial sodium channel (ENaC).[sup][12] Changes in ion transport have also been implicated in asthma pathogenesis.
(21.) Monaghan KG, Feldman GL, Barbarotto GM, ManjiS, Desai TK, Snow K.Frequency and clinical significance of the S1235R mutation in the
cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.
Cystic fibrosis (CF) is caused by mutations in
cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a cAMP- dependent chloride channel that is found at the apical membrane of epithelial cells, including respiratory epithelia and submucosal glands, exocrine pancreas, liver, sweat ducts, and the reproductive tract.
The scientists said that characterizing those additional mutations in the
cystic fibrosis transmembrane conductance regulator (CFTR) gene will not only bring certainty to families about a CF diagnosis or carrier status, but will also accelerate the design process for new drugs tailored to a particular mutation.
Cystic fibrosis results from a mutation in the gene for a membrane protein called the
cystic fibrosis transmembrane conductance regulator (CFTR), which transports chloride ions in and out of epithelial cells.
ANALYSIS OF THE FREQUENCY OF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE MUTATIONS IN THE AFRICAN-AMERICAN POPULATION IN MEMPHIS.
Cystic fibrosis is an autosomal recessive disease, resulting from mutations in the
cystic fibrosis transmembrane conductance regulator. Disease involves multiple systems, and is characterized by production of sticky, dehydrated mucus that lines epithelial cells of the respiratory tract, predisposing the patient to infections by a variety of opportunistic pathogens.
Cystic fibrosis (CF), a disorder of the exocrine glands, results from mutations in the cystic fibrosis gene, commonly known as CFTR (
cystic fibrosis transmembrane conductance regulator).