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The mutational profile of IDH1 and IDH2 is peculiar as the mutations affect only single evolutionarily conserved residues (arginines R132 and R172, respectively).
Local mutations affect only a small number of nucleotides and include nucleotide substitution and insertion or deletion of nucleotides.
These mutations affect only transcriptional repression by MeCP2, preventing it from binding to methylated DNA and from recruiting repressor partners, but the other functions of the protein are not affected, particularly its capacity to silence gene expression by driving chromatin condensation [30], [60] and stabilising large silencing chromatin loops [31].
These substrate mutations affect only one protein at a time; therefore detrimental pleiotropic effects are avoided.
Of the double mutations A1630G/G1721A, the mutation G1721A does not lead to the alteration of HBx codon, and thus the double mutations affect only the codon 86 of the X protein (H86Y).
Given that nonsense mutations affect only a minority of transcripts, it is feasible to assume that most cancer- and normal-specific transcripts may be transcribed into functional proteins and may contribute significantly to the cancerous phenotype.
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This partitioned phylogeny results in part from group specific mutations affecting only the cationic region.
Moreover, the observation that the combination of mutations in these two genes dampens the variance caused by mutations affecting only a single gene is intriguing and suggests interacting pathways.
However, to avoid the possibility of confounding phenotypes, we used only the alleles l(3)70Da s4868 and l(3)70Da, which harbor smaller mutations affecting only the 5′ region of the Pex1 gene, for subsequent developmental characterizations.
Initially, recessive mutations in the parkin gene were related to sporadic early onset parkinsonism [ 2]; however, the mode of transmission was subsequently rejected by other genetic studies with not only homozygous or compound heterozygous mutations, but also single heterozygous mutations, affecting only one allele of the gene [ 2, 57– 61].
Of note, the disruption of GcvB-SroC pairing by point mutations affects only the stability of GcvB, suggesting that SroC does not undergo coupled degradation with its partner RNA by RNase E as previously seen with Hfq-dependent sRNA-mRNA pairs (Massé et al, 2003).
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