PMID: 18346874

Borthwick LA, Riemen C, Goddard C, Colledge WH, Mehta A, Gerke V, Muimo R
Defective formation of PKA/CnA-dependent annexin 2-S100A10/CFTR complex in DeltaF508 cystic fibrosis cells.
Cell Signal. 2008 Jun;20(6):1073-83. Epub 2008 Feb 5., [PubMed]
Sentences
No. Mutations Sentence Comment
306 ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 18346874:306:245
status: NEW
view ABCC7 p.Tyr122* details
Interestingly, recent evidence shows firstly that annexin A1 could not be detected in mice lacking cftr (cftrtm1Unc ), secondly is down-regulated in nasal epithelial cells from CF patients bearing homozygous nonsense mutations in the CFTR gene (Y122X, 489delC) and thirdly is differentially expressed in F508del patients [58]. Login to comment
307 ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 18346874:307:245
status: NEW
view ABCC7 p.Tyr122* details
Interestingly, recent evidence shows firstly that annexin A1 could not be detected in mice lacking cftr (cftrtm1Unc ), secondly is down-regulated in nasal epithelial cells from CF patients bearing homozygous nonsense mutations in the CFTR gene (Y122X, 489delC) and thirdly is differentially expressed in F508del patients [58]. Login to comment