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 ?
org), medications currently in the development pipeline include compounds that provide CFTR modulation, surface airway liquid restoration, anti-inflammation, inhaled anti-infection, and pancreatic enzyme function.
The former is also called CFTR, which could reduce the secretion of Cl[sup]− when mutations happened, leading to secondary water reduction within cavity passage, increased proportion of water and salt in mucin, and sticky mucus.
This study examined a larger group of Venezuelan CF patients with a more comprehensive mutation panel than has been previously reported, including six complete CFTR gene exons containing mutations p.
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.
But the new Johns Hopkins study indicates that CFTR is involved in immune regulation and immune response on a far wider scale.
To increase the CFTR mutation detection rate in black and coloured South African CF patients for molecular diagnosis, we tested patients with a clinical phenotype of CF, and at least one unidentified CFTR mutation, for exon CNVs in the CFTR gene: 24 coloured patients (of Khoisan, Malay, European and African admixture), most of whom originate from the Western Cape, and 18 black patients (sub-Saharan African origin) were tested.
The first part of the phase IIa trial included 20 patients who carry the G551D mutation in the CFTR gene.
The kidney was used as a positive control for ion producer and transporters, such as CAII, NHE3, CFTR, and ATPase [alpha]1.
Furthermore, the vector can introduce genes to not only apical surfaces but also submucosal glands where CFTR primarily expresses.