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It is important to point out that the relevance of a mutation is cell context-dependent - a mutation in a gene that is not expressed in a cell is of no consequence to that cell but expression of the gene in more committed cells, downstream of the cell that is the source of the mutation, may lead to a phenotype associated with disease [ 9, 10].
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Genomic stress that leads to DNA damage and an increased propensity to acquire growth-promoting mutations are cell intrinsic consequences of insufficient autophagy (109, 110).
Therefore, LMNA mutation and WRN deficiency does not facilitate EC senescence, suggesting that the premature aging caused by progeria-associated mutations are cell-type-specific.
89% of the heteroplasmic mutations identified were cell line specific with the majority of shared heteroplasmic SNPs and INDELs detected in clones from 2 cell line development projects originating from the same host cell line.
Nonetheless, we do not suggest that IDH1 mutation is responsible for cells in vitro elimination.
58 These results seem to support the hypothesis that abnormal HSCs with TET2 mutation are the cell of origin for myeloid malignancies.
The most damaging consequence of cell mutation is the development of cancer.
If a genetic mutation is present, then the cell is abnormal from the start.
Which mutation is responsible for sickle cell disease?
Furthermore, this observation suggests that the defect of basonuclin-null mutation is not in the cell division mechanism.
TP53 deletion or mutation is frequent in B-cell malignancies and is associated with a low response rate.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com