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Related to CFTR: cystic fibrosis, CFTRI
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Noun1.CFTR - the gene that is mutated in cystic fibrosis
mutant gene - a gene that has changed so that the normal transmission and expression of a trait is affected
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References in periodicals archive ?
CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene.
According to the agency, Symdeko is used to treat patients who have two copies of the most common type of mutation, F508del mutation, or who have at least one of the mutations in the CFTR gene that is responsive to the active ingredients in Symdeko based on in vitro data and/or clinical evidence.
"By presenting these data at ECFS, we are excited to build on the available data on CFTR modulators and identify new areas of scientific exploration."
A DNA analysis was performed and a homozygous nonsense mutation c.923C>A (p.S308X) and a homozygous variable-site mutationb c.1408G>A (p.V470M) (NCBI: SNP rs213950) in the CFTR gene were identified [Figure 2], confirming CF.{Figure 2}
The recognition that the inheritance of any combination of CFTR mutations will result in a wide spectrum of CF phenotypes is important.
A range of doses were assessed in randomized trials involving patients with cystic fibrosis, heterozygous for the Phe508del CFTR mutation and a minimal-function CFTR mutation (Phe508del-MF) or homozygous for the Phe508del CFTR mutation (Phe508del-Phe508del).
Additional therapies target the molecular defects associated with production and function of the CFTR protein (8, 9).
In Michigan, the IRT/DNA screening protocol screens for the common CFTR mutations in newborns following high IRT (sensitivity 96%) [11].
We have previously shown that hAMSCs display the ability to differentiate into airway epithelial cells and determine an increase in CFTR maturation and CFTR-dependent chloride efflux in cocultures with immortalised CF bronchial epithelial cells (CFBE41o- line) [20].
Analysis of mutation and polymorphism: CFTR gene mutation study was conducted on 27 unrelated, ethnically Kurdish CF patients who were born in Kermanshah province.