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Although multiple substitutions, homoplasy, or back mutations are of biological origin, they might be missed particularly in mutational hotspots because of the lack of methods to identify them.
It is becoming increasingly apparent that the interactions between mutations are of utmost importance, particularly from a prognostic standpoint.
SL partners of cancer mutations are of great interest as pharmacological targets; however, identifying them by cell line-based methods is challenging.
The observation that activation of Ca(2+ -dependent Cl channels can substitute for cystic fibrosis transmembrane conductance regulator (CFTR) in supporting HCO3- secretion and the efficacy of gentamicin in restoring CFTR function and HCO3- secretion in class I mutations are of potential clinical interest.
In the following years, it became clear that EGFR mutations are of great importance for the efficacy of erlotinib (and other first-generation EGFR TKIs, such as gefitinib), and erlotinib was subsequently approved in 2013 as a first-line treatment for patients whose tumors harbor an exon 19 deletion or an exon 20 point mutation [15].
The latter mutations are of particular interest, since they demonstrate how important homo-tetramerisation is for biological activity.
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All three recessive mutations were of paternal origin, while of 93 dominant mutations, 40 were paternal, 46 maternal and seven detected in affected children.
"So, having a reliable biomarker with the ability to identify mutations is of great value". However, it is not clear how early it could pick up the cancer.
Combatting the buildup of mtDNA mutations is of paramount importance in ensuring an organism's survival.
Hence, frequency of mutations is of limited value for estimating radiation doses immediately after an accident.
Investigation to understand mutations is of significant importance to understanding even more profound underlying biological processes.
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CEO of Professional Science Editing for Scientists @ prosciediting.com