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This study demonstrated that random mutagenesis and bioselection procedures could be used to identify mutations that influence important properties of bacterial Rubisco; these residues would not have been identified by other methods.
Researchers are just beginning to discover the gene mutations that influence drug response.
The project could also reveal mutations that influence a patient's prognosis.
The aim was to investigate candidate genes in these regions and to identify putative causative mutations that influence these traits.
Several mutations that influence the autoactivation of human trypsinogen have been published and are discussed in the context of the development of pancreatitis [ 4, 5].
The identified mutations can be biologically interpreted as a set of mutations that influence the pathway level gene expression, and thus the mutations can be considered functional in cancer, which can be further prioritized as cancer drivers.
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Key studies of individual mutations that influenced the risk of diabetes in the DPP are summarised in Table 4.
A multidisciplinary team combined clinical phenotyping, exome sequencing, bioinformatics, and functional studies, eventually finding the causative mutation that influenced the future treatment of the child.
Cholesterol is one of multiple factors, other than familial genetic mutations, that can influence amyloid-β peptide (Aβ) metabolism and accumulation in Alzheimer disease (AD).
Since most studies of KRAS-associated resistance have focused exclusively on codons 12 and 13[3], [12], [13], OncoMap identified additional KRAS mutations that may influence sensitivity to anti-EGFR treatment.
The Cancer Genome Atlas (TCGA), a collaborative effort between the National Cancer Institute and the National Human Genome Institute, has elucidated PTEN mutations that may influence GBM development using genomic sequencing.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com