LitCoin-sentences  

PubMed:20949073 JSONTXT 27 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-77 Sentence denotes Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
T2 78-231 Sentence denotes Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes.
T3 232-313 Sentence denotes However, bypassing the deleterious stop codon can lead to a mild disease outcome.
T4 314-435 Sentence denotes Splicing at NAGNAG tandem splice sites has been reported to result in insertion or deletion (indel) of three nucleotides.
T5 436-617 Sentence denotes We identified such a mechanism as the origin of the mild to asymptomatic phenotype observed in cystic fibrosis patients homozygous for the E831X mutation (2623G>T) in the CFTR gene.
T6 618-790 Sentence denotes Analyses performed on nasal epithelial cell mRNA detected three distinct isoforms, a considerably more complex situation than expected for a single nucleotide substitution.
T7 791-960 Sentence denotes Structure-function studies and in silico analyses provided the first experimental evidence of an indel of a stop codon by alternative splicing at a NAGNAG acceptor site.
T8 961-1107 Sentence denotes In addition to contributing to proteome plasticity, alternative splicing at a NAGNAG tandem site can thus remove a disease-causing UAG stop codon.
T9 1108-1252 Sentence denotes This molecular study reveals a naturally occurring mechanism where the effect of either modifier genes or epigenetic factors could be suspected.
T10 1253-1365 Sentence denotes This finding is of importance for genetic counseling as well as for deciding appropriate therapeutic strategies.