Sentence examples for mutational defects in from inspiring English sources
If expression or mutational defects in these genes can be identified, they may be important determinants for predicting an effective clinical response to DOX therapy.
In humans, mutational defects in the interferon-γ receptor, the cytokine IL-12, or antibodies to interferon-γ result in disseminated mycobacterial infection [5], [6].
Ames and Snell dwarf mice carry mutational defects in the growth hormone-IGF-1 axis.
3 4 Mutational defects in mtDNA genes can lead to a wide range of organ disorders due to defective mitochondrial oxidative phosphorylation pathway.
Together, we conclude that a mutational defect in Magmas C-terminal region impairs the association of yPam18 with the translocon.
At the beginning of the fumigation period, the ascorbate content was lowest in vtc1 with 1.44 ± 0.31 μmol Asc/g FW reflecting the mutational defect in ascorbate biosynthesis [ 17] (Fig. 1).
The transcript level of Bap-1 was 3.73-fold increased and constitutively high upon variation of the CO2-availability, demonstrating that the transcript abundance is dominantly regulated by the mutational defect in ascorbate biosynthesis.
Therefore, our findings should not be applied to children with primary HLH and homozygous perforin signaling mutational defects.
Mutational signatures inferring defects in DNA repair were enriched in those with the highest mutation burdens.
The previously described immunological subgroup of CRC that was marked by extensive infiltration by cytotoxic T cells, with high expression of genes encoding memory T-cell chemoattractants or cytokines promoting cytotoxic T-cell-mediated immunity, closely corresponded to the MSI-enriched subgroup, whose genome is notable for its high mutational burden due to defects in the DNA repair machinery.
These include the presence of mutational signatures – including specific genetic defects in DNA repair and environmental exposures – that are often associated with a high background level of mutations.
