Sentence examples for basic defect in the from inspiring English sources
And, while this drug targets a very specific form of cystic fibrosis that occurs in only four per cent of patients, the fact that similar drugs — which are also intended to address the basic defect in the faulty CFTR protein and which have shown promising results in initial laboratory trials — are being developed by Vertex and other companies seems to signal a new treatment paradigm.
A number of novel therapeutics that target the basic defect in the cystic fibrosis transmembrane conductance regulator channel are currently under investigation.
Markers were analyzed for association with the manifestation of the basic defect in the patient population of the European CF Twin and Sibling Study composed of 101 families with a total of 171 patients.
The underlying basic defect in CF, the restriction of infection to the lung and the chronic nature of infection characterize the vicious cycle of inflammation.
The specific effects on the proteome observed here can be attributed to the basic defect in NBS, defective DNA repair [14].
The basic defect in cystic fibrosis (CF) is caused by mutations in the epithelial chloride channel, known as the cystic fibrosis transmembrane conductance regulator (CFTR).
We have based our basic defect assessment and the phenotype analyzed in the association study on rectal suction biopsies, and thus our finding shows that CLCA4 modifies the manifestation of the basic defect in intestinal cells.
Subsets of case and reference patient populations were selected based on the manifestation of the basic defect in colonic tissue as described elsewhere.
We have reviewed global transcriptome data from 16 unrelated homozygotes for c.1521_1523delCTT in CFTR who have been enrolled in a study on the manifestation of the basic defect in excised intestinal biopsies and subsequent CFTR protein analysis and GeneChip-based transcriptome analysis.
Ivacaftor is the first drug to treat the basic defect in cystic fibrosis, but only provides a response in a small number of patients.
In addition, knowledge of the basic defect in ACDC allows for consideration of treatment for affected individuals; besides the five siblings described above, four other ACDC patients have been ascertained worldwide, and still more have come to our attention recently.
