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This establishes this gene as recurrently mutated in JAK2 V617F and MPL W515K/L negative ET, and suggests that TOP1MT mutations are involved, at low frequency, in the pathogenesis of ET. However, its functional consequences remain to be investigated.
Gene mutations are involved, but they aren't passed down from generation to generation.
We provide strong evidence that at least some of these mutations are involved in binding of sialic acid, a known receptor for the JC virus.
For example, in cavefish, we do not know what is the precise mutation that causes a change in gene expression level, or if multiple mutations are involved.
The clear lack of a relationship between the nucleotide distance in LTRs and flanking NRR sequences suggests that whatever the mechanism(s) acting on LTRs is, it does not extend its effects to the immediate flanking sequences (as far as mutations are involved).
Further genomic, genetic and functional analyses will be required to establish whether other mutations are involved in ATN + MF resistance in AS-ATNMF1.
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Accordingly, a wide range of genetic mutations is involved, and the same mutations may exhibit a different impact.
Nevertheless, future studies are required to rule out the possibility of HadC mutations being involved in PZA resistance.
However, the rarity of the adaptation (occurring in only 1 of 12 populations) suggested that other potentiating mutations were involved.
Moreover, if silent mutations were involved in functional alterations of RNA structure then it might be expected that compensatory base-pairing mutations would have been observed.
Many significantly scored mutations were involved in pathways previously determined to impact endometrial cancer, e.g. PI3K, Wnt signalling, MAPK signalling and p53 signalling pathways (Kanehisa et al., 2012).
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