PMID: 16361706

Hallows KR, Fitch AC, Richardson CA, Reynolds PR, Clancy JP, Dagher PC, Witters LA, Kolls JK, Pilewski JM
Up-regulation of AMP-activated kinase by dysfunctional cystic fibrosis transmembrane conductance regulator in cystic fibrosis airway epithelial cells mitigates excessive inflammation.
J Biol Chem. 2006 Feb 17;281(7):4231-41. Epub 2005 Dec 18., 2006-02-17 [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 16361706:57:281
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 16361706:57:269
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 16361706:57:262
status: NEW
view ABCC7 p.Gly542* details
 Six of the 10 CF HBE cell lines were from patients who were homozygous for the ⌬F508 CF mutation, and the remaining lines were from compound heterozygotes who had one ⌬F508 allele along with a Class I or III mutation in the other allele, including G542X, W1282X, and G551D (one each); one mutation was unknown. Login to comment