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Transcriptomics, proteomics and metabolomics analysis of the re-engineered strains affirmed the causality of the three mutations at molecular level.
The structure provides insight into the phosphoinositide-based mechanism controlling its interaction with sarcomeric proteins such as titin, lays a foundation for studying the impact of pathogenic mutations at molecular resolution, and is likely to be broadly relevant for the regulation of spectrin-like proteins.
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Computational methods were applied to study the protein structural and functional effect on point mutation at molecular level.
The remaining CVs include apparently deleterious mutations at the molecular level, but their phenotypic effects, i.e., disease association, should be interpreted with caution.
In order to assess the effects of two amino acid mutations at the molecular level, we used a functional expression analysis using human embryonic kidney 293 (HEK) cells as has been used in the characterization of bitter, sweet and umami taste receptors [11], [12], [15], [17].
A random background needed to be subtracted from these frequencies by using a Markov model of order (K−2) in order to diminish the influence of random neutral mutations at the molecular level and to highlight the shaping role of selective evolution.
Here, we explore the consequences of ARVC-associated DSC2 mutations at the molecular level.
However, traditionally this approach has suffered from the laborious and protracted process of mapping mutations at the molecular level.
Here, we have performed a genetic analysis of four new HFS patients and analysed the consequences of these mutations at the molecular level.
The progression of mammalian cells towards malignancy is an evolutionary process that involves an accumulation of mutations at the molecular and chromosomal level.
Analysing n-step epistasis for large n can also help investigate the frequency of compensatory mutations at the molecular level, a question that has recently been addressed experimentally [ 76- 78].
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