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.
O'Grady, "Cystic fibrosis transmembrane conductance regulator is involved in airway epithelial wound repair," American Journal of Physiology-Cell Physiology, vol.
The agreement does not include cystic fibrosis transmembrane conductance regulator modulators and is unrelated to PTI's investigational medicines or other ongoing research programs in cystic fibrosis.
(NASDAQ: VRTX) has received approval from Health Canada for PrSymdeko (tezacaftor/ivacaftor and ivacaftor) for treating the underlying cause of cystic fibrosis (CF) in people ages 12 and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, or who have one copy of the F508del mutation and one of several specified mutations in the CFTR gene, the company said.
It is an investigational cystic fibrosis transmembrane conductance regulator potentiator that has the potential to be utilised as part of future once-daily combination regimens of CFTR modulators that treat the underlying cause of cystic fibrosis.
Forty kilobase deletion (CF40 kbdel4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene.
The protein, cystic fibrosis transmembrane conductance regulator (CFTR), usually helps cells maintain normal levels of chloride.
Vertex Pharmaceuticals announced that the European Commission has granted Marketing Authorization for Symkevi in a combination regimen with ivacaftor for the treatment of people with cystic fibrosis, or CF, aged 12 and older who either have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator, or CFTR, gene, or one copy of the F508del mutation and a copy of one of the following 14 mutations in which the CFTR protein shows residual activity.
The study being withdrawn involved patients with one copy of the F508del mutation and one copy of a mutation that results in minimal cystic fibrosis transmembrane conductance regulator (CFTR) protein function (F508del het/min).
A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrante associated with variable cystic fibrosis presentations.
IN 1989, a U.S.-Canadian team identified the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which, when faulty, leads to cystic fibrosis (SN: 9/2/89, p.149).
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