F508del is the most common CFTR
mutation, with one copy present in almost 87% of people with CF in the United States.
In addition to the CFTR
, Cl[sup]− channel-gating depends on many factors, including transmembrane voltage, cell swelling, cross-linking with signal molecules, cell phosphorylation residue or ATP combination and hydrolysis caused by various ions and protein kinase.
33%), we failed to detect any CFTR
mutation in the exons studied.
Mutation analysis: PCR amplification of exon10 and 17a of CFTR
gene was performed using Gene Amp PCR System 9700 (Applied Biosystems, USA).
Twenty nanograms of each genomic DNA sample were used for PCR enrichment of CFTR
targets by applying a custom AmpliSeq[TM] panel (Life Technologies).
38) The aqueous layer, which is composed of proteins, electrolytes, enzymes, metabolites and water (39) is principally produced by the lacrimal gland and accessory lacrimal glands, although recent evidence suggests a small proportion of electrolytes and water are secreted by the cornea and conjunctiva, via ion channels, (40) including CFTR
(see Figure 2).
gene sequencing screen was performed on an adult non-Caucasian female with a cystic fibrosis (CF)-related phenotype, as part of her diagnostic evaluation.
The protein, called CFTR
(cystic fibrosis transmembrane conductance regulator), is already well known for its role in transporting chloride in and out of cells.
To the Editor: Exon copy number variants (CNVs) in the CFTR
gene have been identified as a new type of mutation in cystic fibrosis (CF) patients.
PTC124, which is given by mouth, is one of a number of experimental drugs in development to correct CFTR
proteins are believed to cause the fluid and salt imbalance that characterizes CF patients' airways.