Sentence examples for mutation have revealed from inspiring English sources

In vitro functional studies of cardiac myosin containing the R403Q mutation have revealed significant changes in enzymatic and mechanical properties compared to wild-type myosin.

So far functional studies of 12 missense mutants (11 human Cx50 mutations and 1 mouse Cx50 mutation) have revealed that gap junction activity is altered in most cases (except G46V and I247M) and that may or may not be associated with altered trafficking of the mutant proteins (Table 1).

Previous biophysical studies of this delQKP1507 1509 mutation had revealed persistent residual sodium currents that were 1 1.5% of the maximum current magnitude measured at −30 mV nearly completely blocked by the sodium-channel blockers, tetrodotoxin and lidocaine.

Using rational design, several amino acids involved in substrate binding have been identified and site-directed mutations have revealed that residue H115 plays an important role in binding.

Mice lacking the expression of various claudins, and human hereditary diseases with claudin mutations, have revealed that the claudin-based barrier function of tight junctions is indispensable in vivo.

The molecular determinants of the modulator binding sites (MBS), analysis of particular MBS electrostatics, and the specific loss or gain of binding after mutations have revealed modulators that have strong potential affinities for specific MBS on given subunits and the role of key amino acids in either promoting or obstructing modulator binding.

Because cells of previously studied WAS patients with truncation mutations have revealed little or no WASP [4], [21], we used flow cytometry to determine whether any WASP is expressed in the brothers' cells.

In vitro studies of RCC-predisposing Type 2A and Type 2B VHL missense mutations have revealed a correlation between the degree of mutant pVHL-mediated HIF-α dysregulation and risk of ccRCC [24].

α2(IV) protomer remain unknown, but initial analyses of COL4A1 mutations have revealed that they are associated with BM defects (for review see 8).

Recent studies of the structure of p110α and the effect of the common activating mutations have revealed different mechanisms of activation by helical domain and kinase domain mutations [ 22].

The cumulative results of recent screenings of colorectal polyposis patients for MUTYH mutations have revealed many MUTYH gene variants (reviewed in Cheadle and Sampson, 2007; Vogt et al., 2009), but the repair activity of the type 2 protein of most of the variants has never been tested.