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Their key observation is that in the absence of recombination, two mutations can both reach fixation only if the second mutation occurs in an individual that already carries the first.
The analyses in the previous section can be extended to single-step mutation models (with finite number of states) where the probability of increment and decrement mutations can both have an arbitrary dependence on the number of repeats in the sequence.
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The M918T mutation can both induce a conformational change in the kinase catalytic core leading to the activation of RET without dimerization enhancing the intrinsic kinase activity and alter the substrate specificity of RET [ 13].
Thus, while mutations can have both deleterious and beneficial effects on different functions, the deleterious effects typically appear greater than enhancement.
For the A and B genomes, the search for nonsense or splice junction mutations can involve both tetraploid and hexaploid TILLING populations, since mutations can be transferred by crossing.
We have used the coalescent simulation program ″ms″ [ 36] to simulate this scenario with a symmetric two-allele mutation assumption, so that mutations can occur both in the ancestral species and in the two descendant species.
The most important criticism is that p53 mutations can lead both to inactivation and/or to GOF type changes, and these two groups may need to be analyzed separately.
This study suggests that pathogenic mutations or risk variants in MAPT and in GRN are as frequent in clinical AD cases as mutations in APP, PSEN1 and PSEN2, highlighting that pleiotropy of MAPT or GRN mutations can influence both FTD and AD phenotypic traits.
In this study we demonstrate how protein engineering methods can be used to identify mutations which can both increase the thermostability of receptors, when purified in detergent, as well as biasing the receptor towards a specific physiologically relevant conformational state.
Thus point mutations of CEACAMs can both decrease and increase bacterial load and additional factors that dictate bacterial binding include receptor levels on the target cells.
Our results here demonstrate that PTEN ATP-binding mutations can lead to both qualitative and quantitative impairment of the tumor-suppressive function of PTEN.
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