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Most relevant, mutations in FGFR1 have recently been found in patients with Hartsfield syndrome (OMIM 615465), a congenital condition comprising ectrodactyly (57).
Tools and methods developed in our laboratory should not be considered as an automatic interpretation system; they should be considered as help to ease work discerning the most relevant mutations.
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T315I is the most clinically relevant mutation because it confers a global resistance against all available molecular therapy approaches [ 3, 4].
Most of these are highly efficient for RIF-r detection and are well adapted to search for the most relevant INH-R mutations.
After the initial discovery, DNMT3A mutations were screened in large cohorts and it is now known that 22 30% of AML patients have mutations in this gene, being currently one of the most relevant and potentially targetable mutations found in AML.
To pinpoint the mutations most relevant to LNZ resistance, we sequenced a new S. pneumoniae strain, 1974M1, and two S. pneumoniae LNZ-resistant transformants generated by whole genome serial transformation of LNZ-sensitive strains with genomic DNA isolated from highly LNZ-resistant mutants.
Nevertheless, as with most other recently identified pathogenetically relevant mutations in BCR-ABL1-negative MPNs, ETNK1 mutations were not uniformly associated with a specific MPN in the current study.
This should prove useful in guiding protein engineering and mutations to the most relevant parts of a protein.
Previous studies demonstrated that KRAS mutations represent the most relevant mechanism responsible for anti- EGFR strategy failure (Lièvre et al, 2006, 2008; Di Fiore et al, 2007; Khambata-Ford et al, 2007; Amado et al, 2008; De Roock et al, 2008).
The most relevant to inner ear disease is the mutations in the seed region of miR-96, causing deafness in both humans and mice.
Most relevant, however, was the finding that BRCA mutations found in tumors fail to repress the ER, thus providing an exciting hypothesis of why mutation carriers are especially susceptible to cancer formation in hormone-responsive organs.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com