Title: The dual phosphodiesterase 3 and 4 inhibitor RPL554 stimulates CFTR
and ciliary beating in primary cultures of bronchial epithelia
The CE-IVD marked solution running on the Sophia DDM platform helps clinical laboratories to reduce the cost and time of the CFTR
analysis and facilitates their ISO 15189 accreditation.
All patients were fully informed that their blood would be used for molecular investigation of CFTR
gene mutations, and consent was obtained from each patient or his/ her guardians.
We tested 79 DNA samples--22 cell lines from the Coriell Institute with known CFTR
mutations and 57 peripheral blood samples previously genotyped at the Dartmouth-Hitchcock Medical Center with the xTAG[R] Cystic Fibrosis 60 Kit v2 (Luminex).
To date, CFTR
has been found in human corneal and conjunctival epithelium, corneal endothelium and retinal pigment epithelium, (34) where it has been shown to play an active part in chloride ion secretion across cell membranes.
The team then looked at how each genetic error affected the protein made by the CFTR
This collaboration was expanded to support the accelerated discovery and development of Vertex's CFTR
The rationale for ethnic classification is that the study was done specifically to identify mutations in ethnic groups in which CFTR
mutation detection in South Africa is low.
It is an autosomal recessive disease of the long arm of chromosome 7 on the CFTR
Earlier studies had shown that a faulty or missing CFTR
protein could make cells more alkaline.
The kidney was used as a positive control for ion producer and transporters, such as CAII, NHE3, CFTR
, and ATPase [alpha]1.
Furthermore, the vector can introduce genes to not only apical surfaces but also submucosal glands where CFTR