PMID: 18262467

Campodonico VL, Gadjeva M, Paradis-Bleau C, Uluer A, Pier GB
Airway epithelial control of Pseudomonas aeruginosa infection in cystic fibrosis.
Trends Mol Med. 2008 Mar;14(3):120-33. Epub 2008 Feb 11., [PubMed]
Sentences
No. Mutations Sentence Comment
228 ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 18262467:228:47
status: NEW
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 In a study of nine French CF patients with the Y122X CFTR allele, six patients treated with parenteral gentamicin showed detectable CFTR protein and improved respiratory function and sweat chloride values [83]. Login to comment 229 ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 18262467:229:77
status: NEW
view ABCC7 p.Tyr122* details
 In another study of 11 CF patients with stop mutations (none of whom had the Y122X allele), no effect of gentamicin on CFTR expression or nasal potential difference was achieved [84]. Login to comment 243 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18262467:243:67
status: NEW
view ABCC7 p.Gly551Asp details
 A phase II clinical trial is underway in CF patients harboring the G551D CFTR allele, which produces a poorly functional CFTR protein in the cell membrane. Login to comment