Sentence examples for mutation spectrum the from inspiring English sources

However, very little or nothing is known about the mutation spectrum, the genomic mechanism by which the G4C2 repeat is expanding, and the impact of repeat length on disease susceptibility and gene expression.

To test if somatic mtDNA mutation is a general phenomenon in esophageal cancer and to characterize the mutation spectrum, the TTGE mutation detection method was used to screen the entire mitochondrial genome of tumor and surrounding normal tissues.

Interestingly, when the sequence logo is overlaid with the histogram of the corresponding mutation spectra, the relative frequencies of deleterious mutations and the average information are comparable.

While the xenograft retained the primary tumor mutations, it most closely mimicked the mutation spectrum of the metastasis; that is, the PDX was genetically closer to the metastatic lesion than the primary tumor [ 53].

The differences in the mutation spectrum of the c-K-ras gene in cancers of the gastrointestinal and respiratory tracts are suggestive of differential exposure to genotoxic agents.

On the other end of the mutation spectrum is the simple M680I heterozygosity found in one of the healthy volunteers, C6b, which did not result in any clinical or subclinical (cytokine profile) FMF manifestation.

The mutation spectrum revealed the expected codon 12 and 13 mutations with the p.Gly12Asp, p.Gly13Asp, and p.Gly12Val being the most commonly found (table 1) [ 6].

The mutation spectrum of the genomes was comparable in their individual chromosomes; however, each mutated genome has unique alterations, which are useful to identify causal mutations for their phenotypic changes.

The APC mutation spectrum in the MCRA tumours contrasted with the finding that all 25 truncating mutations in the MAP tumours were G C>T A transversions (P<0.001, Fisher's exact test).

We previously observed in mouse lung, that bitumen fumes did not induce an increase of cII mutants, a modification of the mutation spectrum, nor the formation of DNA adducts.

In an effort to characterize the mutation spectrum of the MAPK pathway in ovarian cancer, we also sequenced MEK1/2 and identified a novel MEK1 heterozygous missense substitution, p.D67N, in ES-2 which resulted from a nt 199 G→A transition.