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  • Mutation
  • Mutation profiling of tumor DNA from plasma and tumor tissue of colorectal cancer patients with a novel, high-sensitivity multiplexed mutation detection platform. (nih.gov)
  • Mutations detected in tissue and plasma with the multiplexed SCODA mutation enrichment and detection assayIn highlighted cells, the detected mutation allele (or alleles) is specified, and for plasma, the number of detected copies (cp) of mutant DNA is also provided, normalized for a 5 mL input volume of plasma. (nih.gov)
  • The multiplexed SCODA mutation detection assay was used to analyze extracted DNA from patient tumor tissue and pre-operative plasma samples for the presence of mutations in KRAS, PIK3CA, BRAF and EGFR as defined in our panel (Table 1). (nih.gov)
  • According to the prevailing accepted theory of carcinogenesis, the somatic mutation theory, mutations in DNA and epimutations that lead to cancer disrupt these orderly processes by disrupting the programming regulating the processes, upsetting the normal balance between proliferation and cell death. (wikipedia.org)
  • Neoplastic
  • Our aim was to evaluate cyst fluid methylated DNA markers for their accuracy for predicting the histologic grade of neoplastic pancreatic cysts. (aacrjournals.org)
  • In a study published in 2015, Kulis and colleagues, to evaluate the epigenetic link between normal B cell differentiation and neoplastic transformation, compared the DNA methylomes of B cell neoplasms with those of their normal cell counterparts. (wikipedia.org)
  • gene
  • These data demonstrate that gene amplifications in B-cell neoplasms are much more frequent than previously assumed. (uzh.ch)
  • Differentially methylated regions (DMRs) are genomic regions with different DNA methylation status across different biological samples and regarded as possible functional regions involved in gene transcriptional regulation. (wikipedia.org)
  • In addition to their role in base excision repair, DNA glycosylase enzymes have been implicated in the repression of gene silencing in A. thaliana, N. tabacum and other plants by active demethylation. (wikipedia.org)
  • and BRCA1, another DNA-repair gene. (wikipedia.org)
  • Disruption of a single gene may also result from integration of genomic material from a DNA virus or retrovirus, and such an event may also result in the expression of viral oncogenes in the affected cell and its descendants. (wikipedia.org)
  • In vitro methylation of this CpG site on a DNA construct strongly inhibited transcription of the H19 gene. (wikipedia.org)
  • protein
  • BRCA1 encodes a tumour suppressor protein that plays pivotal roles in homologous recombination (HR) DNA repair, cell-cycle checkpoints, and transcriptional regulation. (biomedsearch.com)
  • In the present study, we demonstrated that 17β-estradiol (E2) repressed human GnRHR promoter via an activator protein 1-like motif and estrogen receptor-α, of which the DNA-binding domain and the ligand-binding domain were indispensable for the repression. (hku.hk)
  • EMSAs indicated that multiple transcription factors including c-Jun and c-Fos bound to the activator protein 1-like site and that their DNA binding activity was not significantly affected by E2 treatment. (hku.hk)
  • DNA glycosylases can be grouped into the following categories based on their substrate(s): In molecular biology, the protein family, Uracil-DNA glycosylase (UDG) is an enzyme that reverts mutations in DNA. (wikipedia.org)
  • TET2 encodes a protein that catalyzes the conversion of the modified DNA base methylcytosine to 5-hydroxymethylcytosine. (wikipedia.org)
  • detection
  • Using comparative genomic hybridization, a technique that has proven to be very sensitive for the detection of high-level DNA amplifications, we analyzed 108 cases of B-cell neoplasms (42 chronic B-cell leukemias, 5 mantle cell lymphomas, and 61 aggressive B-cell lymphomas). (uzh.ch)
  • The frequency of detection of DNA aneuploidy and the values for S phase fractions depended on the histological subtype and grade of lymphoma. (biomedsearch.com)
  • Molecular
  • Only poly-ubiquitination on defined lysines, mostly on K48 and K29, is related to degradation by the proteasome (referred to as the "molecular kiss of death"), while other polyubiquitinations (e.g. on K63, K11, K6 and M1) and monoubiquitinations may regulate processes such as endocytic trafficking, inflammation, translation and DNA repair. (wikipedia.org)
  • reactive oxygen
  • UVA can also damage DNA indirectly through the generation of reactive oxygen species (ROS), which include superoxide anion, peroxide and singlet oxygen. (wikipedia.org)
  • cellular
  • Cytometric determinations of cellular cytokeratin, vimentin, and DNA were performed before and after incubation. (uni-regensburg.de)
  • Necrosis results in the release of cellular DNA, which adheres in patches to the walls of blood vessels, showing as intensely basophilic material on hematoxylin-eosin stain. (wikipedia.org)
  • tissue
  • Eighty one cases of non-Hodgkin's lymphoma were examined by DNA flow cytometry, using fixed embedded histological tissue. (biomedsearch.com)
  • A neoplasm is a tissue whose cells have lost its normal differentiation. (wikipedia.org)
  • phosphodiester
  • Topoisomerase inhibitors are chemical compounds that block the action of topoisomerase (topoisomerase I and II), which are enzymes that control the changes in DNA structure by catalyzing the breaking and rejoining of the phosphodiester backbone of DNA strands during the normal cell cycle. (wikipedia.org)
  • Monofunctional glycosylases have only glycosylase activity, whereas bifunctional glycosylases also possess AP lyase activity that permits them to cut the phosphodiester bond of DNA, creating a single-strand break without the need for an AP endonuclease. (wikipedia.org)
  • genomic
  • Tumor formation is partially driven by DNA copy number changes, which are typically measured using array comparative genomic hybridization, SNP arrays and DNA sequencing platforms. (nih.gov)
  • Many of these changes are mutations, or changes in the nucleotide sequence of genomic DNA. (wikipedia.org)
  • cells
  • DNA platination in J82 and UROtsa cells was higher by PEG-HPPt than by cisplatin, whereas there was no significant difference between the two cell lines. (uni-regensburg.de)
  • Some scientists have identified these mutations as deletions in the mitochondrial DNA of Hürthle cells found in neoplasms and Hashimoto's thyroiditis. (wikipedia.org)
  • Four different uracil-DNA glycosylase activities have been identified in mammalian cells, including UNG, SMUG1, TDG, and MBD4. (wikipedia.org)
  • Current evidence suggests that, in human cells, TDG and SMUG1 are the major enzymes responsible for the repair of the U:G mispairs caused by spontaneous cytosine deamination, whereas uracil arising in DNA through dU misincorporation is mainly dealt with by UNG. (wikipedia.org)
  • citation needed
  • citation needed] Indenoisoquinolines (green) form a ternary complexes of Top1 (brown) and DNA (blue) (Pommier et al. (wikipedia.org)
  • citation needed] Depending on the nature of the myeloproliferative neoplasm, diagnostic tests may include red cell mass determination (for polycythemia), bone marrow aspirate and trephine biopsy, arterial oxygen saturation and carboxyhaemoglobin level, neutrophil alkaline phosphatase level, vitamin B12 (or B12 binding capacity), serum urate or direct sequencing of the patient's DNA. (wikipedia.org)
  • human
  • The structure of human UNG in complex with DNA revealed that, like other glycosylases, it flips the target nucleotide out of the double helix and into the active site pocket. (wikipedia.org)
  • sequences
  • The genomics era began in the 1990s, with the generation of DNA sequences of many organisms. (wikipedia.org)
  • Certain areas of alleles have the tendency to separate less frequently than normal random segregation, which leads to long ranges of repeated DNA sequences. (wikipedia.org)
  • single-strand
  • Top1 generates DNA single-strand breaks that allow rotation of the cleaved strand around the double helix axis. (wikipedia.org)
  • This entry represents various uracil-DNA glycosylases and related DNA glycosylases (EC), such as uracil-DNA glycosylase, thermophilic uracil-DNA glycosylase, G:T/U mismatch-specific DNA glycosylase (Mug), and single-strand selective monofunctional uracil-DNA glycosylase (SMUG1). (wikipedia.org)
  • damage
  • Editorial: DNA damage & immunity. (nih.gov)
  • Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin. (nih.gov)
  • It has been reported that UV radiation leads to local and systemic immunosuppression, due to DNA damage and altered cytokine expression. (wikipedia.org)
  • Inhibitors
  • Use of topoisomerase inhibitors for antineoplastic treatments may lead to secondary neoplasms because of DNA damaging properties of the compounds. (wikipedia.org)
  • However, treatment with Top1 inhibitors, such as the camptothecins, stabilize the cleavable complexes, prevent DNA religation and induce lethal DNA strand breaks. (wikipedia.org)
  • normal
  • The Top1-DNA intermediates, known as cleavage complexes, are transient and at low levels under normal circumstances. (wikipedia.org)
  • accumulation
  • DNA double-strand breaks (DSBs) trigger accumulation of the MRE11-RAD50-Nijmegen breakage syndrome 1 (NBS1 [MRN]) complex, whose retention on the DSB-flanking chromatin facilitates survival. (nih.gov)
  • essential
  • Folic acid is essential for the body to make DNA, RNA, and metabolise amino acids which are required for cell division. (wikipedia.org)
  • changes
  • A scale-space method for detecting recurrent DNA copy number changes with analytical false discovery rate control. (nih.gov)
  • In addition, there are aDMRs, also known as intra-individual DMRs (Intra-DMRs), which are changes in global DNA methylation as the age of a given individual increases. (wikipedia.org)