Mutational Analysis
Mutational analysis of EGFR and related signaling pathway genes in lung adenocarcinomas identifies a novel somatic kinase domain mutation in FGFR4.
... This study has some potential limitations. First, we examined only 39 genes. We did not sequence all related gene family members such as RPS6KA1-6, MAP2K3, and MAP2K7. This study also did not seek potential mutations in ...
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Mutational analysis of angiogenin gene in Parkinson's disease.
... We present a comprehensive mutational analysis of the ANG gene in a large cohort of PD patients and control subjects. We did not identify any pathogenic mutations. Heterozygous genetic substitutions were ...
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Mutational analysis of circulating tumor cells from colorectal cancer patients and correlation with primary tumor tissue.
... CTCs mutational status with that of the corresponding primary tumor, in order to access the possibility of tumor cells characterization without ...DNA mutational analysis of CTCs may enable ...
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Rational mutational analysis of a multidrug MFS transporter CaMdr1p of Candida albicans by employing a membrane environment based computational approach.
... Site-directed mutational analysis of multidrug ABC multidrug transporter CaCdr1p (a close homologue of ScPdr5p) has revealed insight into its drug binding and efflux ...
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Mutational analysis gives insight into substrate preferences of a nucleotidyl cyclase from Mycobacterium avium.
... Overall assessment of the present work with that of others on mutational analysis of nucleotidylcyclases suggests that the microenvironment of the active site governs the binding and catalytic turnover. ...
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Mutational analysis of the high-affinity zinc binding site validates a refined human dopamine transporter homology model.
... H193 (indicated by a black arrow in Fig. 4). The first part, which precedes H193, is conserved in length and amino acid type and thus will most likely be structured. However, the second part, which is between H193 and ...
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Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
... mutation analysis and diagnostic testing remain a challenge, mainly due to the large size of the gene, the presence of several pseudogenes and the lack of mutational ...
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Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis.
... mutation analysis in cancer diagnostics; however its low-through- put and relative low sensitivity, long turnaround time and overall cost [2] have called for new ...single-gene analysis, the use of NGS in ...
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Candidate Germline Genetic Variants for Familial Colorectal Cancer Type X
... the mutational analysis of MTMR3 also revealed the presence of the normal MTMR3 transcript, co-occurring with alternative transcripts in 17/19 ...this analysis that could explain these ...
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Diagnostic utility of DREAM gene mRNA levels in thyroid tumours
... reports mutational analysis of ...our analysis, the intronic polymorphisms did not correlate in DREAM mRNA levels in different thyroid lesions and, similarly to previously published, do not seem to ...
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Correlation of MLH1 and MGMT expression and promoter methylation with genomic instability in patients with thyroid carcinoma
... Background: Gene silencing of the repair genes MLH1 and MGMT was shown to be a mechanism underlying the development of microsatellite instability (MSI), a phenotype frequently associated with various human malignancies. ...
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Evidence that mutation is universally biased towards AT in bacteria.
... estimate mutational biases by analyzing SNPs extracted from large sequence datasets of five lineages of clonal pathogens (including MTBC) from four broad clades of bacteria that span virtually the whole bacterial ...
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Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees
... haplotype analysis is a powerful tool to reconnect apparently unrelated LHON-affected families into extended pedigrees, raises the possibility that at least part of the preferential association between haplogroup ...
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A phase II trial of sorafenib in metastatic melanoma with tissue correlates.
... quantitative analysis on 5 different, full tumor sections for each tumor specimen, thus evaluating the staining of several thousand tumor cells for each ...
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A mathematical methodology for determining the temporal order of pathway alterations arising during gliomagenesis.
... If mutational events do not co- occur sufficiently frequently, then the question about the temporal sequence of events is meaningless since the events may be associated with separate subtypes ...
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Mutational analyses of the signals involved in the subcellular location of DSCRI
... An analysis by co-visualization of this mutant form, together with a fluorescent red reporter protein car- rying a target sequence for mitochondria, failed to reveal superimposition of the distribution patterns of ...
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Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.
... Sequence analysis shows that the main proportion of the mutation load in heterozygous mtDNA mutator mice and their wildtype siblings is inherited from their heterozygous mothers consistent with germline ...
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An analysis of the epistatic interactions of the cis-regulatory element in the arabinose operon of Escherichia coli
... operon in vitro. Determination of the order of mutational sites governing L-arabinose utilization in Escherichia coli B/r bv transduction with phage Plbt. A dimer of Ara[r] ...
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Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.
... the mutational history of a cell begin- ning from the fertilised egg through to adulthood, then to reprogramming and maintenance of iPSCs in long-term culture, demonstrating how mutagenic processes evolve through ...
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Mutation frequency and spectrum of mutations vary at different chromosomal positions of Pseudomonas putida.
... significant mutational bias on the occurrence of base substitutions with regard to chromosome position or leading and lagging strands of replication were found in the two sequenced genomes of 5000 generations ...
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