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The S52R neuroserpin mutation causes more accumulation in both models in keeping with the more severe clinical phenotype.
This may indicate that this mutation causes more severe foetal HI than the other mutations identified in our cohort.
The results provide further evidence that the S252W mutation causes more severe palatal phenotypes than the P253R mutation.
From these results, an interesting observation can be made: The mutation causes more extreme base composition in the evolving genotypes, making the genotypes of different species distinct.
Specifically, each mutation causes more severe SWD in the C3H background than the B6J background (Papale et al. 2009; Oliva et al. 2014; Beyer et al. 2008; Tokuda et al. 2009; Frankel et al. 2009; Frankel et al., 2014;).
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Our findings suggest that Pnkd-L is involved in regulating cellular redox status through a reaction regenerating reduced glutathione, and disease mutations cause more rapid degradation and decreased endogenous Pnkd-L levels in the cortex.
The reason might be that they have a gene mutation which causes more connections between different brain areas, so there is more cross-wiring than with others.
By introducing both mutations into Saccharomyces cerevisiae, we were able to confirm that the p. (Asp92Gly) mutation causes a more severe oxidative growth phenotype than the p. (Asp92Tyr) mutant, and provides functional evidence to support the pathogenicity of the patient's SDHD mutation.
These, too, showed more tropical than temperate mutations.By a process of elimination, therefore, the three researchers were left with the conclusion that, by pushing metabolic rates up, tropical heat causes more mutation and thus more speciation.
The dy mutation is not sex-linked and causes more severe pathologies than the mdx one.
Furthermore, a read-through mutation can cause more severe effects on translation when no additional stop codon follows.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com