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Epigenetic profiling of AML and glioma patient cohorts show that IDH mutations trigger a global DNA hypermethylation.
The problem of indirect effects is perhaps even more acute in vertebrates because ribosomal mutations trigger a p53-dependent nucleolar stress response pathway [ 3].
Loss of ORC1/CDC6 is likely to reduce the number of replication origins and hence replication efficiency, which in turn is likely signalled by the cell-cycle checkpoint machinery; in other eukaryotes ORC mutations trigger a Rad9-dependent checkpoint, arresting cells in S-phase (Ide et al., 2007).
In 20 families with incomplete CSNB, Torben Beth-Halsen et al. [ 33] identified six different mutations that were all predicted to cause premature protein truncation and indicated that CACNA1F mutations trigger a novel mechanism of defective retinal neurotransmission in CSNB patients.
Protein aggregate accumulation has also been observed in CF airways and a recent landmark study by Luciani, et. al. provided striking molecular evidence that etiologic CFTR mutations trigger a cascade of events that culminate in BECN1/Beclin 1 depletion and impairment of autophagy.
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Our findings are consistent with the 'maintenance of wild-type' hypothesis, the secondary mtDNA deletions induced by OPA1 mutations triggering a compensatory mitochondrial proliferative response in order to maintain an optimal level of wild-type mtDNA genomes.
CD95 and CD95L may be the first identified tumor-suppressive genes that are so important that their loss (which could occur as neoplastically transformed cells continue to acquire mutations) triggers a fail-safe program to kill such cells.
Antibodies in the blood latched onto the standard Texas virus, but modified viruses carrying the F159S mutation triggered a much weaker effect.
In this study, we found that the nonsense mutation triggered a decrease in cwp1 and cwp2 mRNA levels and there was a reverse correlation between the expression levels of the cwp1/2 and upf1 mRNA.
This analysis also shows that a third class of genes (clusters #2, 5, 8, 13, 14, 19) encompasses genes for which the bzip1-1 mutriggersriggers a new or hidden regulation.
These findings demonstrate that the bZIP1 mutation triggers a genome-wide de-regulation in response to L and/or N signals that range from i) a reduction of the L signal effect, to ii) unlocking gene regulation in response to L and N combinations.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com