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Such somatic mutations, as those in body cells are known, can cause chaos in an individual's organs, but are not passed to his or her offspring.In the case of cancer, an accumulation of somatic mutations causes a breakdown of the regulatory mechanisms that stop a cell from multiplying uncontrollably.
The removal of compensatory mutations causes a pronounced upward shift of β toward more synergistic epistasis.
Each of the AGS mutations causes a significant decrease in editing activity of ADAR1p150 that is greater than the effect of the same mutation in the ADAR1p110 isoform.
One of the mechanisms that may occur in highly mutated tumours, such as tumours with a POLE mutation or those with microsatellite instability, is where the large number of mutations causes a variety of frameshift mutations.
One might speculate that the accumulation of several, if not many of such hypomorphic mutations causes a genetic load, which will ultimately cross a given threshold and lead to clinical manifestation of the ASD in the respective individuals (Fig. 2).
Myocardial-specific fetal expression of SHP2 mutations causes a smaller subset of heart defects (Nakamura et al., 2007), but their postnatal expression does not cause any defects (Araki et al., 2009; Dalin et al., 2014; Nakamura et al., 2007), suggesting that endocardial cells are primarily responsible for the NS-related heart defects.
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Each of these mutations causes an upregulation of the mevalonate pathway, making the cells more sensitive to inhibition of HMGCR.
Except for mutations causing a few disorders that we know are strongly associated with paternal age, we don't have a good understanding of what is going on".
When mutations cause a high population of ON or OFF states, or lead to an irreversible change in active site shape and dynamics, the allosteric diseases occur [13].
Genetic mutations cause a thickening of the wall of the heart, reducing its capacity to deal with accelerated heartbeats.
Mutations caused a change of allelic state to another allele within the set of possible alleles.
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