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Since SigC is a virulence factor in M. tuberculosis [31], [32], its altered expression caused by a promoter mutation may impact its global regulatory effect and may be associated with virulence attenuation in H37Ra.
It has been suggested that the FVL mutation may impact on acute inflammatory responses in the lung [ 29].
The presence or absence of a prognostic gene mutation may impact the decision to perform surgical resection or ablative therapy for a small renal mass rather than observation.
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Absence of these and other signaling pathways in taste buds and nerve fibers in individuals with IKBKAP mutations may impact taste bud survival.
Alternatively, these mutations may impact on both E protein functions, ie virus adsorption to the cell surface and pH-dependent fusion of virions with endosomal membranes.
The selection and spreading of CTL-escape mutations may impact the efficacy of immune response at a population-level, whether it is natural[11], [12] or intended to be stimulated through vaccination [13], [14], [15].
In this case, SIFT analysis indicate that the two mutations may impact the protein function.
Accepting this caveat there exists the possibility that BMP4 mutations may impact on risk through a dominant negative effect as has previously been shown for SMAD4 mutations causing juvenile polyposis (Howe, et al., 1998).
The detection of multiple genotypes that have the potential to emerge following treatment may also have implications in the new era of DAAs when the presence of multiple genotypes and low-level resistance mutations may impact on treatment success.
Moreover, in autoimmune lymphoproliferative syndrome many patients display a dysregulated cytokine pattern with dysfunctional T cells, suggesting that Fas defects due to mutations may impact on pathways of T-cell activation/differentiation.
In addition, several peripheral organs and cell types express LRRK2 including kidney, lung and B cells suggesting that LRRK2 mutations may impact physiological processes and exert disease-relevant roles outside the nervous system (9, 10).
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