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However, the team found examples where inherited variants led to the appearance of specific acquired mutations later in life or gave cells with such mutations a growth advantage over other cells.
Moreover western blotting indicated that all mutated variants led to protein secretion (Fig. 3B) even though MMP-2 C233A had no MMP-2 activity (Fig. 3A).
We showed that these variants led to mitochondrial metabolite imbalance, and in turn cause stabilization of HIF1α, and decreased baseline p53 levels mediated by the noncanonical NQO1 pathway.
Further investigation of these 508 variants led to the discovery of 256 examples of epistasis, and 57 of these were replicated in samples from another cohort.
Our previous identification of rapidly maturing DsRed variants led to discovery of the N42H mutation, which accelerates the maturation of wild-type DsRed more than 10-fold [ 6].
In this case, taking care to avoid one complicating factor – the use of a single starter batch that can lead to genetic parallelism due to repeated selection of rare, fit variants – led to a different problem.
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Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2.
These DBP variants lead to differences in the affinity for 1.25(OH)2D3.
It would be intriguing to evaluate whether these variants lead to lower GLIS3 levels leading to perturbations of TGFβ signaling inside β-cells which can be prevented by galunisertib administration.
These data indicate that oral exposure to various virus strains, including T cell-tropic variants, leads to infection.
We show herein that the expression of three structural RPS19 5'UTR variants leads to a reduced translation into RPS19.
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