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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
References in periodicals archive ?
Orkambi, a twice daily oral tablet, is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.
The researchers then exposed the nasospheroids to various CFTR drugs to see what would happen.
Vanda stated that CFTR activators and inhibitors may have broad applicability in addressing a number of high unmet medical needs, including chronic dry eye, constipation, polycystic kidney disease, cholestasis and secretory diarrhea.
Of the 13 resilient people in the study, three carry dual copies of a very rare mutation in the CFTR gene but don't have cystic fibrosis.
Cystic fibrosis remains a clinical diagnosis when evidence of at least one phenotypic feature of the disease (table 1) exists in the presence of laboratory evidence of a CFTR abnormality.
on F508del-CFTR maturation and function," the authors report that a 10 minute exposure of cells expressing the faulty CFTR channel to TNF-?
sup][32] Ion channels, including CFTR and ENaC, play a significant role in the maintenance of ASL.
Cystic fibrosis (CF) is a severe autosomal recessive disorder and more than 1400 different CFTR causative gene mutations have been reported (7).
The clinical manifestations are caused by CFTR gene mutations.
The objective of this study was to determine the presence of CFTR gene mutations (exons 10 and 17a) among 27 CF patients in the population of Kermanshah province with respiratory and gastrointestinal manifestations similar to those reported in CF patients.
Screening tests covering all 23 CFTR mutations have a detection rate ranging from 94% in Ashkenazi Jews to as low as 49% in Asian Americans (5).
As CFTR is found in multiple organs throughout the body, the effects of CF are far-reaching, leading to multi-organ and system dysfunction.