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Within a highly functional sequence, there are key nucleotides whose mutations provoke a significant disruption of the structure, whereas the majority of nucleotides have a more reduced impact on it.
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A second group of mutations provokes a thin and pale cuticle suggesting a fundamental function of the affected genes in cuticle deposition.
In these two patients, the p.Glu265Lys mutation provoked a dramatic rearrangement of GCK, which indicates a more severe prognosis.
The R100W mutation provokes a reduced processing of proNGF to mature NGF in cultured cells and a higher percentage of neurotrophin secreted is in the proNGF form.
By contrast, MeP substitution, together with the R308A mutation, provokes a novel endonucleolytic activity in Flp that directly targets the scissile MeP linkage in DNA [19].
It has been reported that the R100W mutation provokes a reduced processing of proNGF to mature NGF in cultured cells and that the higher percentage of neurotrophin secreted is in the proNGF form [31].
HUVEC transfected with the talin1 siRNA and expressing either GFP-talin1 T1676E or GFP-talin1 E1770A were well spread (Fig. 6A) although the T1676E mutation provoked a transient increase in the number of arborized cells at 5 h (Fig. 6C).
Such a 'vicious cycle' hypothesis would predict an exponential rather than linear trajectory of increasing mtDNA mutation burden, as the initial mutations would provoke a further mutational 'burst'burst
Homozygous mutations usually provoke a complete impairment of FAS-induced apoptosis in vitro, whereas heterozygous FAS mutations are related to a partial impairment of the apoptotic system functionality.
Theoretical approaches then suggest that mutations provoke dynamic alterations of the native state and that, by modifying the conformational preferences, may also perturb its molecular recognition properties.
KRAS2 mutations provoke activation of nuclear transcriptor factors, resulting in cellular proliferation and also in tumour angiogenesis as reported recently (Banerjee et al, 2000; Ikeda et al, 2001).
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