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2,395 results
  • Activation of cryptic splice sites in three patients with chronic granulomatous disease. [Journal Article]
    Mol Genet Genomic Med 2019; :e854de Boer M, van Leeuwen K, … Roos D
  • CONCLUSIONS: We found three different mutations, one exonic, one in a donor splice site and one intronic, that all caused missplicing of pre-mRNA. We analyzed these mutations with four different splice prediction programs and found that predictions of splice site strength, splice enhancer and splice silencer protein binding and branch site strength are all essential for correct prediction of pre-mRNA splicing.
  • High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing. [Journal Article]
    RNA Biol 2019; :1-13Souček P, Réblová K, … Freiberger T
  • Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel high-throughput evaluation of different mutations by next-generation sequencing. In our model system, all exonic and six intronic positions of the SMN1 gene's exon 7 were mutated to all possible nucleotide variant…
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