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Exact(7)
For instance, members of this sub-population may have inherited susceptibility conferred through low-penetrance alleles [47] or may have acquired a somatic mutation early in life [48].
aux727 has a nonsense mutation early in the open reading frame, and an N-terminally truncated protein containing both the clathrin binding and J domains, produced by translation reinitiation, could function in Notch signaling [33], [34].
In humans, NeuGc is not produced in any of the body tissues due to a frame-shift mutation early in human evolution leading to the deactivation of the CMP-NeuAc-hydroxylase (CMAH) gene which normally converts NeuAc to NeuGc [24].
32, 33 High concordance is reported between KRAS mutations from primary tumors and metastases, 34– 36 alluding to KRAS mutation early in the adenoma carcinoma cascade.
Within the Serrana series, the amino acid changes were conserved in the two species and suggested a mutation early in the evolution of this series but after divergence from the Townsendi series.
These identical changes represent more likely a provenance as offspring from the same parental cell that had suffered a mutation early in the expansion of the clone after transfection, rather than independent de novo mutations.
Similar(53)
The possibility that mutations early in development are especially important influences on cancer risk makes this doubly interesting (Frank 2007b).
Yeast strains carrying mutations early in the ergosterol pathway exhibit lower survival rates than those with mutations at later parts of the pathway [ 53].
Thus, under the antagonistic pleiotropy theory of aging, beneficial mutations early in life will be favored even if they cause deleterious effects late in life (Willams 1957).
This is because 'fast expander' cells are saturated with mutations early in life and increase in mutation load at older age is driven by progressively 'slower expanders', meaning slower increase in mutational load.
These frameshift mutations early in the coding sequence of the gene would inactivate that allele, which would reduce normal IDH1 function, rather than produce a gain of function as is seen with the R132 mutation.
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