CFTR


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Related to CFTR: cystic fibrosis, CFTRI

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.

CFTR

Abbreviation for cystic fibrosis transmembrane regulator.
References in periodicals archive ?
Genotype analysis: Mutation screening of CFTR gene in 54 alleles by sequencing reaction for all common mutations (exon 10 and exon 17a) showed that 10 alleles were [DELTA]F508 (14.
Torrent Suite[TM] software was used to compare base calls, read alignments, and variant calling with the reference CFTR human genomic sequence (hg19).
With the localisation of CFTR to the corneal and conjunctival epithelium, and its known contribution to basal tear secretion, it is thought that dry eye could be a primary manifestation of CF.
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.
CFTR is present at higher levels in intralobular and proximal ductular epithelial cells and at lower levels in pancreatic acinar cells (12).
His team has found that in healthy people, cells with normal CFTR bind to P.
Most genetic CF testing is performed by mutation panels, which detect the most common CFTR mutations.
Future in vitro experiments using the CFTR gene will measure channel activity to determine gene therapy's ability to correct the mutant gene.
In a preclinical model, RPL554 was shown to have CFTR-stimulatory properties and that CFTR activation by RPL554 is mediated by its inhibition of PDE4 in cells from CF patients with the R117H/F508del mutation.
While the advent of important new therapies, including CFTR modulators, has been a true game-changer for many CF patients, lung inflammation continues to be a primary cause of CF patient morbidity and mortality," said Greg Duncan, Celtaxsys CEO.
Ramsey of the Seattle Children's Research Institute and colleagues conducted a randomized, double-blind, placebo-controlled trial to evaluateivacaftor (VX-770), a CFTR potentiator, in patients with cystic fibrosis.