scholarly journals The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

2018 ◽  
Author(s):  
Luka A. Clarke ◽  
Nikhil T. Awatade ◽  
Veronica M. Felício ◽  
Iris A. Silva ◽  
Maite Calucho ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Premature Termination ◽  
Premature Termination Codon ◽  
Mrna Abundance ◽  
Termination Codon ◽  
Nasal Epithelium ◽  
Human Nasal Epithelium ◽  
Intestinal Organoids

scholarly journals Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

2016 ◽  
Vol 15 (2) ◽  
pp. 158-162 ◽  
Author(s):  
D.D. Zomer-van Ommen ◽  
L.A.W. Vijftigschild ◽  
E. Kruisselbrink ◽  
A.M. Vonk ◽  
J.F. Dekkers ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Premature Termination ◽  
Premature Termination Codon ◽  
Termination Codon ◽  
Intestinal Organoids

scholarly journals Aberrant splicing of the E-cadherin transcript is a novel mechanism of gene silencing in chronic lymphocytic leukemia cells

Blood ◽  
2009 ◽  
Vol 114 (19) ◽  
pp. 4179-4185 ◽  
Author(s):  
Sanjai Sharma ◽  
Alan Lichtenstein
Keyword(s):  
B Cells ◽  
Chronic Lymphocytic Leukemia ◽  
Premature Termination ◽  
Ectopic Expression ◽  
Premature Termination Codon ◽  
Lymphocytic Leukemia ◽  
Termination Codon ◽  
Nonsense Mediated Decay ◽  
Aberrant Transcript ◽  
E Cadherin

Abstract Premature termination codon (PTC) mutations are due to insertion or deletion of nucleotides causing a frameshift and premature termination codon in RNA. These transcripts are degraded by the nonsense-mediated decay pathway and have a very short half-life. We used a microarray technique to screen for genes that up-regulate their RNA signal upon nonsense-mediated decay pathway blockade in chronic lymphocytic leukemia (CLL) specimens and identified an E-cadherin transcript with PTC. Sequencing revealed an aberrant E-cadherin transcript lacking exon 11, resulting in a frameshift and PTC. The aberrant E-cadherin transcript was also identified in normal B cells, but occurred at a much lower level compared with CLL cells. In CLL specimens, E-cadherin expression was depressed more than 50% in 62% cases (relative to normal B cells). By real-time polymerase chain reaction analysis, the relative amounts of wild-type transcript inversely correlated with amounts of aberrant transcript (P = .018). Ectopic expression of E-cadherin in CLL specimens containing high amounts of aberrant transcript resulted in down-regulation of the wnt–β-catenin pathway reporter, a pathway known to be up-regulated in CLL. Our data point to a novel mechanism of E-cadherin gene inactivation, with CLL cells displaying a higher proportion of aberrant nonfunctional transcripts and resulting up-regulation of the wnt–β-catenin pathway.

Nitric oxide has no beneficial effects on ion transport defects in cystic fibrosis human nasal epithelium

2000 ◽  
Vol 441 (1) ◽  
pp. 133-137 ◽  
Author(s):  
Claudia Rückes-Nilges ◽  
H. Lindemann ◽  
Thorsten Klimek ◽  
Hiltrud Glanz ◽  
Wolf-Michael Weber
Keyword(s):  
Nitric Oxide ◽  
Cystic Fibrosis ◽  
Ion Transport ◽  
Nasal Epithelium ◽  
Beneficial Effects ◽  
Human Nasal Epithelium
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