CFTR


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Related to CFTR: cystic fibrosis, CFTRI
  • noun

Synonyms for CFTR

the gene that is mutated in cystic fibrosis

References in periodicals archive ?
The data demonstrate that inhaled RPL554 activates CFTR, and stimulates an increase in ciliary beat frequency, thus having the potential to increase mucociliary clearance and as a consequence the ability to help to reinstate a central function impaired in this disease.
achieves this by preventing the faulty CFTR protein from being degraded before it is successfully transported to the cell membrane.
By detecting all CFTR types of variants in a single NGS experiment, Sophia Genetics' customers save the time and cost associated with an additional reflex experiment and an MLPA experiment.
However, when a CFTR gene mutation is detected, there is an increased risk of cystic fibrosis in the child.
We describe a proof-of-concept study to show the efficacy in the clinical laboratory of detecting different classes of mutations in the CFTR coding sequence.
Gradual progress is being made in emerging protein repair and gene therapy, both of which aim to develop therapeutic strategies which target specific CFTR mutations, in order to improve or restore CFTR function.
The research team analyzed each of these mutations to determine its clinical relevance and its effect on the work of the CFTR protein.
Interestingly, preliminary tests of latonduine A in combination with other potential CFTR correctors have shown an additive effect.
Although the sample size was small, this report suggests that exon copy number variants of CFTR is not a major mutational mechanism giving rise to CF in black and coloured southern African CF patients.
Cystic fibrosis (CF) is caused by mutations that affect the cellular processing of CFTR protein.
This hypothesis was confirmed by genetic tests, which revealed a compound heterozygous mutation: a [DELTA]F508 mutation (phenylalanine deletion) in exon 10 of the CFTR gene and a D1152H (aspartic acid to histidine) mutation in exon 18 of the CFTR gene.
Patients with cystic fibrosis have a mutation in the CFTR gene.