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The consensus is that the LHON primary mutations are not associated with MS [11].
However, in majority of the cases, no primary mutations are being detected even if the patient has typical signs of mitochondrial disorder.
Indeed, the three primary mutations are prerequisites for LHON, and many other rare LHON mutations are discovered continuously (c.f. http://www.mitomap.org/MITOMAP/MutationsLHON).
Primary mutations are directly responsible for resistance.
Similar(56)
Patients were cumulatively pooled in increasing time periods, and the percentage of strains carrying primary mutations was compared in both subtype groups (Figure 1 shows these comparisons for each ARV class).
In consequence, primary mutations were assayed but secondary mutations were not included.
Finally, genes showing lineage-specific patterns of differential expression not linked directly to primary mutations were characterized by a striking overrepresentation of toxin antitoxin pairs.
»Vezatin protection of tight junctions against mechanical stress.« Over the years, not only have primary mutations been discovered in genes, leading to deafness, but the interaction between the proteins they encode have been found to form networks.
An example of this may be an escape pattern where a primary mutation is first selected in context of a specific HLA allele, followed by a compensatory mutation at a secondary site [24], [35], [36].
The protein expression levels of these suppressors with primary mutation were also similar to wild-type and properly localized to the cell surface.
Secondary mutations show clonal evolution, and newly acquired mutations are highly heterogeneous with regard to the metastatic sites in a patient, and sometimes even within a particular tumor nodule, although the primary mutation is the same throughout all lesions.
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