Sentences with phrase «aberrant splicing»
Aberrant splicing was associated with the usage of cryptic 3» splice and branchpoint sites, as described for human SF3B1 mutants.
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RNA - seq analysis detected aberrant splicing in DONSON due to one of these noncoding variants, showing a causative role for DONSON disruption in MMS.
The therapy is an 18 - letter string of DNA that corrects aberrant splicing by binding a unique sequence on SMN2 «s messenger RNA located just downstream of the crucial seventh exon, thereby obstructing components of the RNA splicing machinery (see «Bring to one's antisenses»).
Additionally, alterations of subcellular localization through aberrant splicing or genetic mutations also provide ways to inactivate tumor suppressor genes (50).
Aberrant splicing was due to a 5 base pair deletion at the branch point in intron 7.
«I believe we'll come to know that many diseases are caused by aberrant splicing,» he adds.
«Aberrant splicing in humans may lead to various complex diseases and also underlies the development of some forms of cancer and the onset of neurodegenerative diseases, so a better understanding of the process can add important information for our fight against these diseases.»
Several factors newly discovered to be phosphorylated by GSK - 3 are also known to be mutated in acute myeloid leukemia, a condition in which aberrant splicing causes uncontrolled white blood cell proliferation.
This «mirror image» sequence of RNA sticks to the aberrant splice sites.