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Chen, W. et al. Langerhans cell sarcoma arising from chronic lymphocytic lymphoma/small lymphocytic leukemia: lineage analysis and BRAF V600E mutation study.
This is the first report of a COL7A1 mutation study in DEB from Korean patients.
We would like to thank Matthias P. Mayer of ZMBH, Heidelberg, Germany for his advice regarding the mutation study of TPR domains, and colleagues mentioned in the text for gifts.
Structure modeling and site-directed mutation study indicated that Ser51 in SCF-4 involved in the binding of enzyme with glyphosate and played a crucial role in the improvement of catalytic efficiency.
Our mutation study revealed that hARD1 associated with an IgG motif of MLCK and acetylated the Lys608 residue in this motif.
A subsequent epigenetic and mutation study [10] led to the identification of silenced promoters, 13 of which correspond to the CAN genes analyzed in this study [11].
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Based on structural analyses and mutation studies, we identified six residues responsible for the substrate binding and catalysis.
In our mutation studies (A131), we found that a recB mutation completely blocked the formation of long deletions, while base substitution and frameshift mutations were little affected.
In line with the rodent clock gene mutation studies, human mutations in several clock genes were shown to contribute to the genetic susceptibility to obesity, insulin resistance and T2DM.
Instead, a substitution of at least two nucleotides would be needed to generate the arginine-to-alanine mutation studied by Telezhkin43; thus, the R325A mutation is less likely to occur in vivo.
In addition, these calculations provide structures for the bound ligands that are consistent with published mutation studies.
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