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Tamborero, D., Gonzalez-Perez, A. & Lopez-Bigas, N. OncodriveCLUST: exploiting the positional clustering of somatic mutations to identify cancer genes.
Based on our recent crystal structure of a DDR2-collagen complex, we designed mutations to identify the molecular determinants for DDR1 binding to collagen IV.
The method works by performing a rapid computational screening of tens of thousand of mutations to identify those with the greatest impact on the solubility of the target protein while maintaining its native state and biological activity.
We performed exome sequencing on CF families with zero CFTR mutations to identify candidate intergenic molecular contributors to CF. Putative deleterious alleles in CA12 encoding carbonic anhydrase (CA) XII segregated with disease in two unrelated families exhibiting an atypical CF phenotype of elevated sweat chloride concentrations and hyponatremic dehydration.
We used deficiency mapping, bioinformatics, and available single gene mutations to identify 17 interacting genes.
We found a Df that lacked Lar-AP muscle attachment site staining, and used overlapping Dfs and insertion mutations to identify the heparan sulfate proteoglycan (HSPG) Syndecan as the Lar ligand encoded within this Df [11].
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Since cnnhk21 is a null allele [35], we analyzed cnnhk21 mutation to identify the Cnn functions.
Davoli et al. [ 37] analysed reported patterns of mutation to identify likely tumour suppressors and oncogenes.
The process, designated "tagged sequence mutagenesis", involves sequencing short segments of DNA isolated from each mutation to identify genes disrupted by the targeting vector.
Therefore, we searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (updated on Jan, 8th, 2015, with synonymous and HVS mutations removed, 568 mutations in total) to identify mutations that may lead to radical changes in RNA or protein function.
We searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (568 pathogenic mutations in total, updated on Jan, 8th, 2015, with synonymous and HVS mutations removed)35 to identify mutations that lead to radical changes in RNA or protein function.
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