PMID: 24040112

Clancy JP, Szczesniak RD, Ashlock MA, Ernst SE, Fan L, Hornick DB, Karp PH, Khan U, Lymp J, Ostmann AJ, Rezayat A, Starner TD, Sugandha SP, Sun H, Quinney N, Donaldson SH, Rowe SM, Gabriel SE
Multicenter intestinal current measurements in rectal biopsies from CF and non-CF subjects to monitor CFTR function.
PLoS One. 2013 Sep 10;8(9):e73905. doi: 10.1371/journal.pone.0073905. eCollection 2013., [PubMed]
Sentences
No. Mutations Sentence Comment
106 ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 24040112:106:129
status: NEW
view ABCC7 p.Glu60* details
 In addition, six CF subjects were enrolled in a parallel protocol at one site (genotypes were F508del/F508del for five subjects, E60X/ 621+1G-T for the sixth subject). Login to comment 223 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 24040112:223:87
status: NEW
view ABCC7 p.Gly542* details
 In addition, Bedwell and colleagues have shown that transgenic mice carrying the human G542X mutation in CFTR that are treated with suppressors of premature termination codons (aminoglycosides, ataluren) have detectable CFTR function in intestinal tissue studied by ICM [46-49]. Login to comment