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As the G4C2 repeat is located between two transcription initiation sites, C9orf72 expression might be disrupted by aberrant binding of regulatory elements or altered methylation.
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Aberrant DNA methylation might be explained by the aberrant binding of transcription factors to their genomic target sequences.
Researchers have reported that promoter methylation, which inhibits APC gene expression, is mediated by changes of chromatin conformation and aberrant binding of CCAAT-box binding transcription factors [ 7].
Since ATM deficiency and overexpression of RAD51 could enhance the effect of etoposide to induce 11q23 chromosomal translocations, aberrant binding of RAD51 to the BCR by ATM deficiency may be responsible for the 11q23 chromosome translocations.
However, to date no rational explanation for the aberrant binding behavior of hagfish insulin has been provided.
The structural reasons for the aberrant binding and biological behavior of hagfish insulin have so far eluded explanation.
Our flotillin-1 overexpression experiments at least exclude that the anti-inflammatory effect of flotillin-1 shRNA was mediated by excess flotillin-2 exhibiting aberrant binding.
Intriguingly it was recently shown that in HD a short transcript of the HTT gene is produced by aberrant splicing, probably influenced by abnormal binding of the splicing factor SRSF6 to the CAG repeat expansion [ 19].
We show that ectopic JNK activation is caused by aberrant glycosylation of a single protein, the fly tumor necrosis factor (TNF) receptor homolog, which results in increased binding to the continually circulating TNF.
The aim of this study was to determine whether the observed aberrant expression of HOXA10 is caused by aberrant methylation of the gene.
Most types of cancer cells are characterized by aberrant methylation of promoter genes.
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