ABCMdb

PMID: 20154695

Harmon GS, Dumlao DS, Ng DT, Barrett KE, Dennis EA, Dong H, Glass CK
Pharmacological correction of a defect in PPAR-gamma signaling ameliorates disease severity in Cftr-deficient mice.
Nat Med. 2010 Mar;16(3):313-8. Epub 2010 Feb 14., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC7 p.Trp1282* ABCC7 p.Trp1282* IB3-1 cells are human bronchial epithelial cells derived from a compound heterozygote individual with cystic fibrosis (∆F508/W1282X) expressing only ∆F508 CFTR protein, owing to the instability of the W1282X mutation15. Login to comment 154 ABCC7 p.Ser489* Eckman, E.A., Cotton, C.U., Kube, D.M. & Davis, P.B. Dietary changes improve survival of CFTR S489X homozygous mutant mouse. Login to comment 204 ABCC7 p.Trp1282* ABCC7 p.Gly542* Hamosh, A., Rosenstein, B.J. & Cutting, G.R. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Login to comment 293 ABCC7 p.Ser489* We inbred mice heterozygous for the S489X (B6.129P2-CFTRtm1Unc, or Cftr+/-) mutation for more than ten generations. Login to comment