cystic fibrosis transmembrane conductance regulator


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Related to cystic fibrosis transmembrane conductance regulator: CFTR

cystic fibrosis transmembrane conductance regulator

[¦sis·tik fī¦brō·səs tranz¦mem‚brān kən′dək·təns ‚reg·yə‚lād·ər]
(cell and molecular biology)
A specialized chloride channel that is regulated by cyclic adenosine monophosphate; its disruption has been implicated in cystic fibrosis.
References in periodicals archive ?
Cystic fibrosis transmembrane conductance regulator dysfunction alters physiological functions of both surface and submucosal gland of epithelium, which leads to salt and water imbalance across airway epithelium, depleted surface liquid layer, and impaired MCC.
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor Nat Genet 1996;12:280-7.
The international, multi-centre, double-blind, randomised, multi-dose, placebo-control trial will concentrate on assessing Resunab's safety and tolerability in up to 70 adults with cystic fibrosis regardless of their cystic fibrosis transmembrane conductance regulator mutation.
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ivacaftor Potentiates Multiple Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Forms.
Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) announced today an interim analysis of data from an ongoing Phase 2 study of VX-809 and KALYDECO[TM] (ivacaftor) that showed significant improvements in lung function (FEV1) among adults with cystic fibrosis (CF) who have two copies (homozygous) of the most common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, F508del.
CF is a life-threatening genetic disease that is caused by defective or missing cystic fibrosis transmembrane conductance regulator (CFTR) proteins resulting from mutations in the CFTR gene.
According to PTI, recent research demonstrates that CF is a disease characterised by improper folding and inadequate trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
That protein, known as the cystic fibrosis transmembrane conductance regulator (CFTR), is responsible for regulating the flow of chloride across the cell surface to help hydrate and clear mucus from the airways.
Orally-administered plecanatide binds to and activates GC-C expressed on epithelial cells lining the GI mucosa, resulting in activation of the cystic fibrosis transmembrane conductance regulator, and leading to augmented flow of chloride and water into the lumen of the gut, facilitating bowel movement.
The disease is caused by a mutated gene that produces defective or missing cystic fibrosis transmembrane conductance regulator (CFTR) proteins.
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).
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