The results suggest growing nasospheroids from nasal samples could provide a quick screening method to determine how a patient's cells react to different CFTR
activators and inhibitors was developed in the UCSF laboratory of Alan S.
It could be that a variant in another gene counteracts that specific mutation in the CFTR
dysfunction in the lungs results in thick pulmonary secretions as the aqueous surface layer (ASL) lining the alveolar epithelium becomes dehydrated and creates a prime environment for the development of chronic infection.
achieves this by preventing the faulty CFTR
protein from being degraded before it is successfully transported to the cell membrane.
is a kind of Cl[sup]− channel in epithelial membrane regulated by phosphorylation, which is located primarily in the airway epithelial cells of apical membrane [Figure 1].
mutations that cause CF vary in different ethnic groups, and the Venezuelan population contains a mix of different ethnicities (13, 14).
However, when a CFTR
gene mutation is detected, there is an increased risk of cystic fibrosis in the child.
mutations naturally reveal considerable heterogeneity.
We describe a proof-of-concept study to show the efficacy in the clinical laboratory of detecting different classes of mutations in the CFTR
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
CF is caused by a defective or missing CFTR
protein resulting from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR
Not only does latonduine A get CFTR
to the surface in cell-based assays, it also provides up to 9 per cent correction in mouse models of cystic fibrosis.
A mutated CFTR
is responsible for the genetic disease cystic fibrosis.
proteins regulate the flow of salt and water across the cells.