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It is simpler to explain this significant positive correlation by invoking codon-anticodon adaptation than by random mutation, and suggests the utility of CAI as a measure of gene expression in human genes.
This reinforces our assumption that HOXA1 c.451delisstheis the disease-causing mutation, and suggests that the microtia is a rare disease occurring solely in Shaziling pigs.
This example shows that there are proteins which become dependent on molecular chaperones after mutation and suggests that bacterial cells may increase their buffering capabilities by increasing the cellular level of molecular chaperones.
This conclusion would explain the protein deficiency in individuals with the GlySer mutation and suggests that those individuals with SerPro or ΔSer mutations are also likely to be deficient in CL-K1.
These results suggest that the dibasic –270_−269AA promoter mutation, but not the single −220A variant, reduces promoter activity, which is likely to have a functional impact in the patients carrying this dibasic mutation, and suggests that this area is important for the regulation of the AIP promoter.
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Finally, we discuss the potential functional implications of the mutation and suggest future prospects to evaluate the effect of the mutated CEP63 on cellular functions.
These findings give new insight into the nature of the C3H/HeJ mutation and suggest an important mechanism by which glucocorticoids may act to suppress inflammation.
Our data provide an unanticipated mechanism for autosomal dominant inherited polycythemia due to a heterozygous EPOR mutation and suggest a regulatory role of EPO/EPOR pathway in human circulating endothelial precursors homeostasis.
Nevertheless, our results suggest a significant correlation between metabolic response and exon 11 KIT mutation and suggest that metabolic change on F-FDG-PET/CT may detect therapy-resistant disease.
All the available ascertained affected PDB individuals from the third generation (III-1, III-3, III-12 and III-13) exhibited the M404V mutation of the p62/ SQSTM1 gene (Table 1), confirming the pathogenetic nature of this p62/ SQSTM1 gene mutation and suggesting segregation of the mutation with the polyostotic phenotype in this family.
These findings demonstrate a strong correlation between the p53 IHC score and presence of TP53 gene mutation and suggest that in both type I and serous endometrial carcinomas that TP53 gene mutations that inhibit p53 protein function provide a selective advantage to tumour cells, resulting in their enrichment in the tumour population and generation of a highly aggressive tumour.
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Justyna Jupowicz-Kozak
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