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Exact(7)
In addition to the two missense mutations, we observe also five synonymous variants.
For all three mutations we observe conservation scores close to 5.0, an indication that the positions are under evolutionary constraint.
The pattern of mutations we observe in these genes is consistent with selection to reduce the repression mediated by Rgt1 and Mth1.
It appears that most of the mtDNA missense mutations we observe become fixed in tumor progenitor cells without distinct physiological advantage.
Thus all of the mutations we observe can be explained by known oxidative products, but which of the possible products are most important in leading to the mutations is for the most part not known.
The fact that the G to A mutation in the MSV TATA box enhanced the virulence of MSV-Nm, and the reverse mutation (i.e. A to G) significantly decreased the virulence of hybrids of these genomes [ 73], supports the hypothesis that the A(2475 G/T/C and other TATA box mutations we observe are likely to be at least mildly deleterious.
Similar(53)
In contrast, separating cases in single-mutated (n=60) or double-mutated/homozygous (n=21) RUNX1 mutations, we observed a non-significant trend towards a lower CEBPA expression in cases with double-mutated/homozygous mutations (mean±s.d. 126±89 vs 165±100; P=0.116).
When looking closer at the type of mutations, we observed a significant increase of A to G mutations between crocidolite and sham-treated samples.
Furthermore, about one third of the mutations we observed were in E2, especially in HVR1, so the mutation rate of the HCV ORF outside E2 was just 0.59%.
Thus, in other patients, the CTL escape mutations we observed develop in OP177, which may have been transmitted, and persisted after transmission, suggesting a negligible fitness cost.
Moreover, in human MFH (n = 8) lacking canonical RAS mutations, we observed nuclear staining of phospho-ERK by immunohistochemistry in greater than 30% of tumor cells in 7 of 8 samples (Fig. S2).
Related(16)
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