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Cross-comparison of our transcriptome data with previously identified mutations revealed that most genes from our dataset have not been mutated.
The clustering of our DNA sequences into genotype groups corresponded to their respective subtype, that is, adw2 in genotype B, adrq in genotype C and ayw in genotype D. Analysis of the point mutations revealed that five of the sequences contained aa substitutions at immunodominant epitopes involved in B or/and T cell recognition.
Analysis of the mutations revealed that specific combinations of mutations were particularly important in conferring selective advantage.
Breeding tests among mice carrying different mutations revealed that E2-2 and HEB interact with E2A in many developmental processes including generation of B cells.
Mutation showers were found after analyses of intragenic doublet mutations revealed that they were clustered and chronocoordinate [9].
Kinome-wide analysis of sequence and structure-based signatures of cancer mutations, revealed that a significant number of cancer mutations could fall at structurally equivalent positions within the catalytic core.
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Resequencing studies of the kinase coding regions in tumors have classified tumor-associated somatic mutations revealing that only a small number of kinase mutations may contribute to tumor formation (known as cancer driver mutations) while the majority could be neutral mutational byproducts of somatic cell replication (known as passenger mutations) [23] [28].
A comparison of the fixation rates for synonymous, nonsynonymous, and disease-associated mutations reveals that negative selection operates against nonsynonymous SNPs [ 13- 15].
DOI: http://dx.doi.org/10.7554/eLife.03606.006 10.7554/eLiFigure06.007 Figure 1 figure supplement 4. VSD mutations reveal that KCNE1 suppresses currents from intermediate-open states and increases those from activated-open states.
Characterisation of lung cancers with TKI-sensitive EGFR mutations reveals that PI3K/Akt pathway in these tumours is dependent on HER3 signalling (Engelman et al, 2005).
The AIP promoter is positively regulated by the cAMP PKA pathway, and functional characterization of AIP mutations reveal that our promoter mutation decreases promoter activity, whereas some synonymous changes result in abnormal splicing or reduced AIP expression.
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