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Exact(7)

TP53 is the most frequently mutated gene in cancer [ 104- 106] and TP53 mutations are specifically associated to tumor subgroups with distinct biological features, particularly in breast cancer [ 4, 5, 33, 107].

These two studies demonstrate that independent DIA1R mutations are specifically associated with human XLMR, while the deletion studies implicate DIA1R deletion in autism-like syndromes and/or XLMR.

By contrast, the ΔLeu954 and Ala934Val mutations are specifically associated with DCM and have more modest effects on the cross-linking of actin filaments, especially the Ala934Val mutation [7].

For example, cancers that arise from BRCA1 mutations are specifically prone to PARP inhibitors.

Recent studies aiming to understand the underlying molecular mechanisms have focused on conditional mouse models in which mutations are specifically targeted to neural crest cells (NCCs), a migratory cell population that participates in the remodeling of aorta during cardiovascular development.

Other alterations, such as tumour suppressor TP53 mutations, are specifically found in PDTC and ATC, and are often associated with RAS or BRAF mutations (Quiros et al, 2005; Wang et al, 2007), suggesting an accumulation of events during progression.

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Similar(53)

A second group of mutations was specifically designed to either increase or decrease the size and energy of the second encounter complex, but either way it did not affect kon.

Most of the mutations were specifically present in only one case, except G5783A, T4216C and A10149T.

To verify if the mutations were specifically affecting glycogen metabolism, we determined the trehalose content of cells from each strain.

Second, we found that PIK3CA mutations were specifically associated with BRCA1 proficient tumors, a finding that was also observed in another study [ 21].

Importantly, unlike other investigators, Beelen and colleagues [ 2] were able to examine whether these mutations were specifically associated with response to tamoxifen but did not observe a statistically significant interaction between tamoxifen treatment and PI3KA mutation.

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