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Around the change of millennium physicians began to understand that GIST are a result of a KIT or PDGFR mutation and more importantly, that the resulting mutated KIT or PDGF receptor could be blocked by the tyrosine kinase inhibitor imatinib.
So Arg is more important, more protected from mutation, and more expression regulated than Trp.
They found that >96% of IPMNs have either a GNAS complex locus (GNAS) or a KRAS mutation and more than half of them have both mutations.
Overall, these results suggest a potential benefit of ivacaftor in patients with the Arg117His CFTR mutation and more advanced lung disease.
Pam3CSK4 induced IL-6 release was however partially restored by R97 and Y105 mutation and more so in case of the R97Q/Y105A double mutant.
Many previous studies of mutation in breast cancers have failed to report this mutation, and more recent reports [ 4, 9, 10] have also produced evidence that if it exists it does so below the level of detection of the techniques used.
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In this article, we analyze this evolutionary choice between immediately beneficial mutations and more complex mutational trajectories that ultimately lead to higher fitness.
We identified 3,726 point mutations and more than 90 indels in the coding sequence, with an average mutation frequency more than 10-fold higher in smokers than in never-smokers.
Conversely to the well-known exon skipping, exon exchange has the advantage to be compatible with almost any type of mutations and more generally to a wide range of genetic conditions.
For instance, HPV-positive oropharyngeal SCC harbor fewer mutations overall (e.g., no TP53 mutations) and more PIK3CA mutations.
Therefore, these proteins are likely to have low tolerance of mutations and more conserved evolution.
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