Sentence examples for mutation we have from inspiring English sources

Exact(22)

As the 17q25.3 gain was the most frequent gain in our BRCA1-mutated population, and has not yet been described in the context of BRCA1 mutation, we have decided to characterize it further.

To test whether protein dynamics contribute to activity enhancement in the V67L mutation, we have studied the conformations and dynamics of the minimized and engineered intein ΔΔIhh-V67CM and a single V67L mutant, ΔΔIhh-L67CM, by solution NMR.

By generating a knock-in mouse model expressing non-phosphorylatable Separase with a S1121A point mutation, we have explored the Separase phospho-regulation at organismal level.

By neuron-specific over-expression of APP with the swedish double mutation (APPswe, K670N + M671L) and PS1 carrying the M146V mutation we have generated a double transgenic mouse line, ARTE10, which can be maintained homozygous for both transgenes.

To permit a comparison of the effects of the vLINCL mutation, we have now created wild-type, heterozygous, and homozygous CbCln6nclf neuronal precursor cell lines from postnatal Cln6nclf mice [33], which bear a frameshift-producing, single base-pair insertion in the murine Cln6 gene, which is also found in human vLINCL patients [28], [29].

A representative low-cost mutation we have isolated is in the translation elongation factor EF-G.

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For the E109K mutation we had 14 homozygotes and 2 heterozygotes (Table II, Supporting Information Fig. 2s).

In previous studies of the Tau-ΔK280 mutation we had noticed pronounced aggregation, but it was not clear in what pathway the major effect of mutant Tau was located.

Besides these mutations we have also identified several mutated cancer drug targets or genes that are associated with treatment outcome, including BRAF, KRAS, FGFR2 and MTOR, which might help to choose optimal drug combinations.

"What's hugely encouraging is that many of the key mutations we have identified are ones targeted by existing cancer drugs, meaning that we could be entering a new era of personalised cancer treatment," he said.

To perceive the KIT gene mutations, we have carried out PCR SSCP followed by direct DNA sequencing in 50 AML-M0 cases.

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