PMID: 17913891

Scott-Ward TS, Cai Z, Dawson ES, Doherty A, Da Paula AC, Davidson H, Porteous DJ, Wainwright BJ, Amaral MD, Sheppard DN, Boyd AC
Chimeric constructs endow the human CFTR Cl- channel with the gating behavior of murine CFTR.
Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16365-70. Epub 2007 Oct 3., 2007-10-09 [PubMed]
Sentences
No. Mutations Sentence Comment
228 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17913891:228:53
status: NEW
view ABCC7 p.Asn1303Lys details
Support for these ideas is provided by the CF mutant N1303K, which attenuates greatly CFTR potentiation by PPi, inhibition by ADP, and adenylate kinase-dependent channel gating (22, 24). Login to comment
241 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 17913891:241:49
status: NEW
view ABCC7 p.Gly542* details
For example, gentamicin improves the survival of G542X CF mice (27) and rescues CFTR function in CF patients bearing stop codon mutations (28). Login to comment