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Finally, the Arg301Glu mutation displayed a striking increase in the transition temperature when subjected to thermal denaturation.

Breast cancer cells containing the FYVE-CENT R1945Q mutation displayed a significant increase in cytokinetic profiles and bi - multinuclear phenotype.

The semi-viable Smnf01109 mutation displayed a moderate reduction in NMJ bouton numbers, consistent with its weakly hypomorphic nature (Figure 4C).

In contrast, double mutants containing the crwn1 allele paired with another crwn mutation displayed a reduced average chromocenter number with a weaker association with nuclear size.

Interestingly, three patients carrying the G190S mutation displayed a profound transitory depression of CMAP under neurophysiologic examination (Modoni et al., 2011), in accord with the proposed relationship between the shift of open probability curve and the CMAP decrement (Colding-Jorgensen, 2005).

Analysis of the drug susceptibility of these isolates confirmed that all strains carrying the katG mutation displayed a high level of resistance to isoniazid (MIC >10 µg/ml) and those isolates carrying only the inhA promoter mutation showed intermediate isoniazid resistance (MIC = 1.25 µg/ml) compared to H37Rv (0.16 µg/ml; Table 2).

The H5N1 reassortants containing the indicated mutation displayed an increased resistance to acidic pH and high temperature treatment compared to those lacking modification.

Cells containing the heterozygous c.1114C>T mutation displayed an increased sensitivity to ionizing radiation compared to the control parental line, non-targeted sister clones, or targeted sister clones in which the mutation was not integrated (Figure 2d and data not shown).

Hence, the mutation displays a dose effect, were double mutants have more serious defects than horses carrying only one copy of the disease-causing allele [ 7].

In Mysm1−/− BM progenitors, reduction of ribosomal proteins Rpl11 and Rpl24 could contribute to the activation of p53-dependent pathways and, interestingly, belly spot and tail (Bst) mice, carrying a hypomorphic Rpl24 gene mutation, display a similar p53-dependent skin phenotype and other anomalies comparable to Mysm1−/− mice.

The silent/missense mutations displayed a more heterogenous mutational spectra.