PMID: 20644644

Hunter MJ, Treharne KJ, Winter AK, Cassidy DM, Land S, Mehta A
Expression of wild-type CFTR suppresses NF-kappaB-driven inflammatory signalling.
PLoS One. 2010 Jul 14;5(7):e11598., [PubMed]
Sentences
No. Mutations Sentence Comment
138 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 20644644:138:310
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 20644644:138:182
status: NEW
view ABCC7 p.Gly542* details
 Our data predict that the higher inflammation in CF cells could be a consequence of fewer wt-CFTR molecules at the membrane, as would be predicted to occur with stop mutants such as G542X that occur in a minority of CF patients and the clinical data supports the view that the presence of CFTR mutants such as G551D-CFTR that traffic normally but fail to transport chloride at all, nevertheless reduce lung damage to a degree [36]. Login to comment