cystic fibrosis transmembrane conductance regulator


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Related to cystic fibrosis transmembrane conductance regulator: CFTR

cystic fibrosis transmembrane conductance regulator

a membrane protein coded for by a single gene, mutations of which are responsible for cystic fibrosis. This protein functions in many tissues as a chloride channel.
See also: cystic fibrosis.

cystic fibrosis transmembrane conductance regulator

a regulator of secretion in many exocrine tissues. Abnormalities in the gene cause cystic fibrosis, leading to abnormal chloride channels in cell membranes of the respiratory epithelium, pancreas, salivary glands, sweat glands, intestines, and reproductive tract. Also called cystic fibrosis transmembrane regulator, cystic fibrosis transmembrane regulator protein.

CFTR

A gene on chromosome 7q31.2 that encodes cystic fibrosis transmembrane conductance regulator, a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes and many of which are involved in multidrug resistance. CFTR functions as a chloride channel and controls the regulation of other transport pathways.
 
Molecular pathology
CFTR mutations cause cystic fibrosis and bilateral aplasia of the vas deferens.
References in periodicals archive ?
Ivacaftor Potentiates Multiple Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Forms.
The results are important because they suggest that ataluren promotes the production of full-length, functional cystic fibrosis transmembrane conductance regulator (CFTR) protein and addresses the underlying cause of the disorder.
The disease is caused by a mutated gene that produces defective or missing cystic fibrosis transmembrane conductance regulator (CFTR) proteins.
The disease is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene found on chromosome 7.
Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced the initiation of a Phase 2a clinical trial that will evaluate multiple combinations of VX-770 and VX-809, investigational oral cystic fibrosis transmembrane conductance regulator (CFTR) modulators for the treatment of cystic fibrosis (CF).
In addition, results from an Israeli Phase 2a study demonstrated statistically significant improvements in the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein and a statistically significant decrease in the frequency of cough, one of the most prominent and burdensome CF-related symptoms.
VX-809, an oral investigational Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR) corrector, was well-tolerated across all four dose groups studied.
has in-licensed from the University of California Regents additional small-molecule cystic fibrosis transmembrane conductance regulator (CFTR) inhibitor technology including gastrointestinal (GI) and polycystic kidney disease (PKD) indications.
Results from an Israeli Phase 2a extension study evaluating three months of oral PTC124 treatment in adult patients with nonsense-mutation-mediated CF demonstrated statistically significant improvements in the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein and a statistically significant mean [28%] decrease in the frequency of cough, one of the most prominent and burdensome CF-related symptoms.

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