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A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research. [1] The case report form is the tool used by the sponsor of the clinical trial to collect data from each participating patient.
In the lung, the median TMB across more than 18,000 lung cancer cases was 7.2 mutations/Mb, with approximately 12% of the patients showing more than 20 mutations/Mb. [24] The authors identified a tumor mutational burden greater than or equal to 10 mutations/Mb as the optimal cut-off to benefit from combination immunotherapy . [ 24 ]
Measurement of TPMT activity is encouraged prior to commencing the treatment of patients with thiopurine drugs such as azathioprine, 6-mercaptopurine and 6-thioguanine. Patients with low activity (10% prevalence) or especially absent activity (prevalence 0.3%) are at a heightened risk of drug-induced bone marrow toxicity due to accumulation of ...
A mutation may, or may not, be passed on to off-spring (e.g. if is a mutation that happens in some replicating cells that are not part of the germline, none of the off-spring will bear the mutation. For example, a mutation may occur in a skin cell as a result of ultraviolet light resulting in a thiamine dimer which is not properly repaired ...
A mutation may occur to replace a tyrosine (which needs to be phosphorylated in order to activate the protein) with an aspartic acid (which would not need to be phosphorylated). In a laboratory setting, the use of recombinant proteins to artificially introduce phosphomimetics is a common tool for studying phosphorylation and protein activation.
Site-directed mutagenesis is used to generate mutations that may produce a rationally designed protein that has improved or special properties (i.e.protein engineering). Investigative tools – specific mutations in DNA allow the function and properties of a DNA sequence or a protein to be investigated in a rational approach. Furthermore ...
To date, scientists agree that the mutation rates differ in loci position. The greater the length of the MSI, the greater the mutation rate. [4] Although most mutations of MSI are the result of frame-shift mutations, occasionally the mutation events leading to MSI are derived from the hypermethylation of the hMLH1 (MMR protein) promoter ...
In genetics, trinucleotide repeat disorders, a subset of microsatellite expansion diseases (also known as repeat expansion disorders), are a set of over 30 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they cause developmental ...