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Advisability of studies on pathogenic role of such mutations is derived from molecular mechanisms, by which they can cause defects in the protein structure of some respiratory chain enzymes and in transfer RNA (tRNA), synthesized directly in the mitochondria.
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U2OS HIF-1α (344–826 V5) also with N416R, M561A and M568A mutations was derived and cultured using described protocols [ 12].
Reconstruction of MC1R evolution over the molecular phylogeny in PAML shows that these mutations were derived in terminal lineages.
Mouse fibroblasts carrying pathogenic mtDNA mutations were derived from the mouse L929 cell line, which has fixed several mutations over long-term culture.
When data on APC and K-ras mutations are derived from the study by Smith et al. [ 9], similar results, although not statistically significant, could be obtained.
The number of possible synonymous and non-synonymous mutations was derived by examining the longest annotated coding transcript per gene (transcript length based upon Ensembl Biomart described above).
Distinct from the previous cases, these mutations were derived from a population-based study of EC and CRC patients whose tumours showed MSI, the main hallmark of HNPCC.
Interestingly, though the writing of mutations was derived independently from the same fact, we can now see that it helps us understand the physical basis of convergence.
pL101Btrp, used to screen for termination-altering mutations, was derived from pL101 [a gift from Linda Hyman, Tulane University (Hyman et al. 1991)].
However, 32 of these mutations were derived from one case with closely spaced germline alleles that did not allow us to distinguish between a −1 or +1 repeat unit mutation and hence were scored as 'other' mutations.
MSH6 missense mutations were derived from a project comprising altogether 2000 colorectal and EC cases newly diagnosed in the main hospitals of the Columbus metropolitan area in central Ohio (population 1.5 million).
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