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The mutagenesis primers designed for the mutations were as follows (the mutated sequences are underlined): mu- C/EBP α-Forward: 5′-CCTCCTG AACAATGTAGTTCTC-3′, Reverse: 5′-CTACGGGAGCCTGCCATGTTTC-3′; mu-Sp1-Forward: 5′-GGGGTA ATAGACTACGCTCTT-3′, Reverse: 5′-CCGCCGACGACCGGGAACCTAC-3′.
By contrast, women with BRCA mutations were as likely as not to be stricken decades earlier, sometimes in their 20s.Still, there were suspicions that the picture was being painted in unnecessarily gloomy hues.
The observed high frequencies of FGFR3, TP53, and PIK3CA mutations were as expected.
The primers for the site-directed mutagenesis to introduce the missense mutations were as follows.
The effects of nmdΔ mutations were as strong as deletions affecting aspects of the DNA Damage Response (DDR), including deletions of DNA damage checkpoint genes (ddc1Δ, rad9Δ, rad17Δ, and rad24Δ) or exo1Δ, affecting a nuclease that attacks uncapped telomeres.
Heckman et al. found that mice with extra MeCP2 protein with either of these two mutations were as healthy as normal mice and showed none of the signs of MECP2 duplication syndrome.
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Given the sequences of the seven targets, the distribution of mutations was as expected.
However, the full clinical relevance of PALB2 mutations is as yet uncertain.
The mechanism of this genotype phenotype association according to the location of the mutations is as yet unclear.
In addition to other findings presented below, several observations argue that these mutations are as a group inactivating, bona fide cancer-causing mutations.
The problem of distinguishing driver and passenger mutations is as acute for structural mutations as it is for point mutations [ 10- 13].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com