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Here we report the first study using base editor (BE) system to correct disease mutant in human embryos.
However, whether base editors can repair homozygous T>C (or A>G) disease mutant in human embryos remains to be tested.
Nonetheless, the high cytokine induction phenotype of the MAMM mutant in human macrophages and pneumocytes is relevant to the pathogenesis of human influenza virus infections.
Therefore, we checked the intracellular replication capacity of the hfq mutant in human epithelial as well as murine macrophage cell lines.
Since the P-loop of AtEHD2 is 100% conserved with the human EHD P-loop, we chose to mutate (within the P-loop) the Glycine that generated a dominant negative mutant in human EHDs, to Argenine [38], thereby generating AtEHD2_G221R.
Expression of a non-cleavable Rad21 mutant in human cells was observed to cause a failure in anaphase chromatid disjunction, though it was not determined whether this failure to disjoin chromatids was due to remaining arm or centromere cohesion [38].
Similar(53)
In the latter case, there are good reasons to expect differences in retention rates for the reciprocal HBB/ HBD and HBD/ HBB fusion genes due to thalassemia pathologies associated with the HBD/ HBB "Lepore" deletion mutant in humans.
However, a rare Hb mutant in humans, Hb Hope, is characterized by a comparable charge altering replacement (β136Gly→Asp) and, interestingly, exhibits functional properties similar to that of eastern mole Hb [ 20, 21].
In addition, the overexpression of various p53 mutants in human cancer cell lines could also mask the important roles of acetylation in p53 stabilization.
To increase the efficiency of integration, we mutated the φC31 integrase gene and screened the mutants in human cells in an assay for higher recombination frequency between attB and attP.
Corresponding mutants in human MKKs showed that they are conserved not only structurally, but also functionally.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com