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NPM1 insertion mutations represent a common recurrent genetic abnormality in acute myeloid leukemia (AML) patients.
Mutations represent a fascinating experimental challenge, and we invite theoretical simulations for the disclosure of still unexplored features of enzyme reactions.
Position effects along with gene mutations represent a source of genetic variation.
Together, the selected mutations represent a ∼2-fold increase in ATP binding affinity over the parent sequence.
Hence, rare mutations represent a greater fraction of new and mildly deleterious mutations, whereas common ones represent a greater fraction of ancient and neutral mutations.
The alternative explanation is that BDB mutations represent a gain of function phenotype whereby ablation of the ROR2 tyrosine kinase pathway results in the activation (or relief of repression) of signalling pathways in the limb which leads to digit truncation [24].
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Even though exon-skipping mutations represent an estimated 10 20% of all cancer-related gene mutations [4], [9] [12], no high throughput method has been available to screen for such mutations.
Point mutations represent an important form of cellular damage, but not the only one.
A recent summary suggests that whilst B-RAF mutations represent an early stage event, particularly in the development of papillary thyroid carcinomas, changes in the PI3K pathway occur later and are associated with aggressive transition (Paes & Ringel 2008).
While loss of function of tumour suppressors occurs frequently at the genetic level, p27Kip1 mutations represent an extremely rare event, consistent with data that p27Kip1 expression is regulated at the post-transcripitonal level [ 34].
In environmental health, the recognition that exposures could produce DNA mutations represents a major landmark for risk assessment and prevention [ 1].
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