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In summary, the mutational variants in CD further describe a defect in bacterial sensing, as mentioned by Wagner et al, 9 and an exaggerated response of the intestinal immune system.
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The fact that these variants are frequently stored in the database does not mean that they are mutational hotspots, but rather reflects the inheritance of the corresponding mutational variant in European matrilines.
The exploration of mutational landscapes is an important step in understanding differences between amyloid topologies, how mutational variants arise in the wild, and to elucidate evolutionary relationships between related amyloid proteins.
Whether other IDH1 or IDH2 mutational variants exist in GTNI and whether a genotypic restriction to IDH1 R132H alone would have any functional significance remain unclear.
The catalytic efficiency of the mutational variant used in the study is highlighted in bold for easy reference, and additional mutants are listed in Appendix 1 Table 1.
A particularly interesting mutational variant present in the sequenced strain is the insertion of a Doc transposable element in the C HKov1 gene (CHKov1 Doc1420 ).
Using this lentivirus system, we generated stable THP-1 cell lines with promoters containing WT HIV, P-selectin, and Skp2-κB sites or their mutational variants, and measured dGFP expression in LPS-stimulated cells.
Cas −/− MEFs stably expressing WT p130Cas versus mutational variants (Fig. 1A) were generated in order to evaluate the contribution of p130Cas signaling domains to cell migration.
The loss of coordination among these parameters together with the influence of habitat contamination and degradation may generate differences in sets of mutational variants and influence their frequencies [56].
Furthermore, as stated previously, and currently restated by Biank et al, 15 the NOD2/CARD15 mutational variants are nearly absent or rare in East Asians, Arabs, Africans, and African-Americans.
Multiple mutational variants of Cby have been created in an attempt to circumvent the signal-broadening problem due to conformational exchange and self-association occurring in the C-terminal region of the protein.
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