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It has also been suggested that APAs with ATPase mutations are smaller than APAs with KCNJ5 mutations.
Indeed, the mechanisms of genetic epistasis predict that for genes acting in the same pathway, the combined effects of inactivating mutations are smaller than the sum of effects when they are measured for each component separately (reviewed in Cordell, 2002).
Analysis of dm target genes revealed a prominent role for Myc in the regulation of genes controlling ribosomal biogenesis and protein synthesis [ 21- 24], thus animals carrying dm hypomorphic mutations are smaller due to a reduction in their protein synthesis and cell size [ 25- 28].
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The most common sensitizing mutations are small in-frame deletions in exon 19 (45%) or the L858R missense mutation (40%to45%5%) in exon 21 leading to favorable response rates to EGFR TKIs [6].
More than 75% of TP53 mutations are missense mutations that produce mutant proteins, and up to 25% of mutations are small insertions or deletions that produce truncated proteins.
The most common type of mutations are small frameshift insertions or deletions, nonsense mutations, or mutations affecting splice sites resulting in a deletion of complete or partial exons or insertion of intronic sequences.
In addition, as many of the LKB1 mutations are small deletions (Table 2) or involve deletions of entire exons, these would be missed using exon-specific genome sequencing methods.
Tests showed that the DNA of the cells was damaged, but that the mutations were smaller than would be expected with a nuclear hit--resembling spontaneous mutations.
Our data are congruent with recent studies [2], [17], [55], [56], and demonstrate that after seroconversion, the overall number of reverse mutations is smaller than the number of escape mutations, but reverse mutations occur earlier and are mostly dominant or complete, while escape mutations from the wild type occur later and most are transient.
The fitness effects of StrR mutations were smaller on average in genotypes that had adapted to LB compared to the same genotypes without adaptation (paired t-test: t8 = 4.83, P = 0.001; Figure 3a,b).
This represents antagonistic pairwise epistasis between I572S and K43N: the cost of having both mutations was smaller than expected from their independent effects on the wild type (Additional file 2: Table S2).
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