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Furthermore, most studies reporting the frequency of KRAS mutations have studied only metastatic CRCs, and KRAS-mutated CRC might be more aggressive than their wild-type counterparts.
Virtually all electrophysiological investigations of hERG mutations have studied exclusively the hERG1a isoform; however, recent evidence indicates that native IKr channels may be comprised of hERG1a together with the hERG1b variant, which has a shorter N-terminus.
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The mutations we have studied caused much larger changes in IP3 sensitivity (∼30-fold, Table 4).
This suggests that the molecular mechanism leading to suboptimal telomere maintenance may be distinct for the X-linked and autosomal dominant forms of DC for the mutations we have studied.
To test whether protein dynamics contribute to activity enhancement in the V67L mutation, we have studied the conformations and dynamics of the minimized and engineered intein ΔΔIhh-V67CM and a single V67L mutant, ΔΔIhh-L67CM, by solution NMR.
The mutations that we have studied, which affect the Toll pathway adaptor protein Tube, instead cause an unusually wide range of phenotypes.
Somatic mutations have been studied extensively in the context of cancer.
Two of these mutations have been studied in the TsPOx homologs in Trametes spp. (Spadiut et al. 2009a, b).
Numerous detected mutations have been studied at the functional level [ 5].
The effects of some of these TWINKLE mutations have been studied in vitro using purified recombinant proteins (20– 20).
Since then, these two mutations have been studied for their association with various infectious and inflammatory diseases; results regarding the effects of these mutations have been inconclusive [ 65- 71].
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