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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.
Focus on "cystic fibrosis transmembrane conductance regulator is involved in airway epithelial wound repair"," American Journal of Physiology-Cell Physiology, vol.
Vertex Pharmaceuticals announced that Health Canada approved PrSYMDEKO for treating the underlying cause of cystic fibrosis in people ages 12 and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, or who have one copy of the F508del mutation and one mutation in the CFTR gene.
Cystic fibrosis (CF) is a disabling and life-threatening autosomal recessive disorder resulting from mutations that cause dysfunction in the cystic fibrosis transmembrane conductance regulator (CFTR).
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossing over.
They accomplished this feat by inserting a gene that produces a normal protein, known as cystic fibrosis transmembrane conductance regulator (CFTR), into cells bearing a mutant gene that encodes an abnormal version of the protein.
The study was designed to evaluate the safety, tolerability and pharmacokinetics of PTI-801, a third generation cystic fibrosis transmembrane conductance regulator corrector.
- The New England Journal of Medicine (NEJM) has published two articles with results from Boston, Massachusetts-based serious disease therapeutics developer Vertex Pharmaceuticals Inc.'s (NASDAQ: VRTX) two Phase 3 studies of the tezacaftor/ivacaftor combination treatment, a medicine in development to treat the underlying cause of cystic fibrosis (CF) in people ages 12 and older who have certain mutations in the cystic fibrosis transmembrane conductance regulator gene, the company said.
Identification of mutations in exons 1 through 8 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
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.
Concert is initially developing CTP-656 as a potential monotherapy treatment for cystic fibrosis due to gating mutations of the gene that encodes for cystic fibrosis transmembrane conductance regulator, a protein, which regulates components of sweat, mucus clearance and digestion.
The MiSeqDx Cystic Fibrosis system leverages its targeted resequencing chemistry to provide rapid and accurate identification of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

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