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We used different subunit combinations and CaV1.2 mutations to analyze channel regions responsible for anion effects.
However, by using a hypermutator we were able to detect a sufficiently large number of mutations to analyze the effects of relatively rare types of mutation, such as indels, which have traditionally been overlooked in MA studies.
For example, digital PCR can be used to detect mutations, to analyze copy number variations seen in the amplifications or deletions of specific genes, and to quantify specific nucleic acids species.
For instance, with our data, the number of mutations to analyze drops from about 388 to 6 for one tumor, which represents a huge time-saving for biologists who interpret data in a clinical context.
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For egl-20/Wnt, we chose the egl-20(n585) mutation to analyze its effect on longevity.
Here, a subpopulation of Chinese patients with incontinentia pigmenti were examined to investigate the frequency and pattern of NEMO mutations, and to analyze their clinical features.
We used an inducible mouse model expressing the Tau repeat domain with the pro-aggregant mutation ΔK280 to analyze presynaptic Tau pathology in the hippocampus.
We used morphology, immunohistochemistry, gene expression and somatic mutation profiling to analyze 39 matched pairs of primary breast cancers and brain metastases, 22 unmatched brain metastases of breast cancer, 11 non-breast brain metastases and 6 autopsy cases of patients with breast cancer metastases to multiple sites, including the brain.
Mutant details were listed in Supplementary Tables 2 and 3. Currently, DNA sequencing is also the "golden standard" of genotyping technologies, and Scorpion-ARMS is thought to be the most efficient method in detecting EGFR and KRAS mutations, which can be used to analyze mutations higher than 1%, and FDA US has accredited it in detection of EGFR and KRAS mutations.
Additionally, the structural effects of the positive mutations were investigated to analyze the structural basis for the enzyme substrate specificity with the target substrate.
However, as the number of clinically relevant mutations to be analyzed increases, the definition of new approaches for more sensitive, rapid and economic patient selection urges.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com