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Better knowledge of PIK3CA mutation impact requires the identification of downstream target genes and signaling pathways activated by aberrant PI3K/AKT signaling.
How does the E173A mutation impact this binding?
The ontology, hereafter named Mutation Impact Ontology, is made publicly available [ 22].
Mutation impact extraction is a hitherto unaccomplished task in state of the art mutation extraction systems.
These efforts should greatly improve the breadth of genes to which pathway-based mutation impact approaches can be applied.
The extracted entities are populated to an OWL-DL Mutation Impact ontology facilitating complex querying for mutation impacts using SPARQL.
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For this mutant, the conclusion is that even though the mutation impacted on the quantification of join points, the behaviour of the woven application remained the same.
This suggests that the Rb1ΔL/ΔL mutation impacts tumorigenesis at an early stage, rather than increasing proliferation in existing tumors.
Considering that Hira is on the X chromosome, we also examined the offspring sex ratio to see whether Hira mutation impacts sperm quantity.
DAP12 mutation impacts glutamatergic transmission in the adult, but we previously demonstrated that it ceases to be expressed in the hippocampus at this age [12].
We therefore used the heterozygous mouse (CaSR+/−), which has an elevated serum [Ca2+] reflecting lower affinity for [Ca2+]o but normal growth and survival [30], to examine if the CaSR mutation impacts nerve terminal sensitivity to [Ca2+]o.
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