• Reduced viral replication capacity of human immunodeficiency virus type 1 subtype C caused by cytotoxic-T-lymphocyte escape mutations in HLA-B57 epitopes of capsid protein. (bvsalud.org)
  • Cytotoxic- T-lymphocyte (CTL) escape mutations in human immunodeficiency viruses encode amino acid substitutions in positions that disrupt CTL targeting, thereby increasing virus survival and conferring a relative fitness benefit. (bvsalud.org)
  • After the loss of the cytotoxic T lymphocyte (CTL) response to this epitope and in the presence of high viral load, reversion to wild-type sequence was observed. (ox.ac.uk)
  • Screening for recurrently mutated genes in the mononuclear cell fraction revealed mutations in SF3B1 in 39 of 40 cases (97.5%), combined with TET2 and DNMT3A in 11 (28%) and 6 (15%) patients, respectively. (nih.gov)
  • The scientists found that while this normal genetic mutation is mostly well targeted to the genes for antibodies, a surprising amount of collateral damage occurs elsewhere in the genome - it is this off-target mutation that can lead to lymphocytes becoming cancerous. (york.ac.uk)
  • The considerably greater cell-to-cell variation than person-to-person variation suggests that changes within different areas of the body over a person's lifetime, such as certain infections and inflammation, are more likely to cause mutations linked with cancer and disease than inherited mutations in genes. (york.ac.uk)
  • Permanent changes in genes and chromosomes, or genome mutations, can be induced by a plethora of agents, including ionizing and nonionizing radiations, chemicals, and viruses. (powells.com)
  • Dr. Revollo is developing NGS methods capable of directly and efficiently identifying somatic mutations in the whole genome - in any tissue, and in any species, or any established cell culture - without the need for selecting and expanding cells that have mutations in only a few specific reporter genes. (fda.gov)
  • T cells with somatic mutations on JAK-STAT and MAPK pathway genes were characterized by single-cell transcriptomics. (helsinki.fi)
  • The study of inherited disorders and the genetic alterations that are responsible for their complex array of disease symptoms has often resulted in the discovery of causative genes that play a role in cancer initiation," said NCI Director John E. Niederhuber, M.D. "The disease mutations found in this study in the DOCK8 gene exemplify that kind of important finding. (nih.gov)
  • Somatic missense mutations in cancer-related genes were detected in three IHES patients. (oncotarget.com)
  • Our data show that a subset of IHES may be of clonal origin not related to the classical molecular aberrations of FGFR, PDGFRA/B , or T-cells, and that the initiating hits could be point mutations in a variety of genes, including spliceosome mutations or hypermethylated tumor suppressor genes. (oncotarget.com)
  • It does not induce sex-linked recessive lethal mutations or nondisjunction in Drosophila melanogaster . (inchem.org)
  • It induced sex-linked recessive lethal mutations, but not aneuploidy, heritable translocations or dominant lethal mutations in Drosophila. (inchem.org)
  • they form effector and memory lymphocytes. (wikipedia.org)
  • The antiviral effect appeared similarly strong when the viral challenge was carried out 3 months after boosting, and associated with the persistence of N-specific CD8 + T-resident memory lymphocytes. (nature.com)
  • The test material was shown to be non-clastogenic to human lymphocytes in vitro. (europa.eu)
  • The potential of the test substance, manganese dichloride, to induce structural chromosomal aberrations in human lymphocyte cells in vitro was investigated in a study which was conducted under GLP conditions and in accordance with the standardised guideline OECD 473. (europa.eu)
  • Tumor-infiltrating lymphocyte (TIL) therapy is a type of adoptive cellular therapy by harvesting infiltrated lymphocytes from tumors, culturing and amplifying them in vitro and then infusing back to treat patients. (biomedcentral.com)
  • Currently, the most widely-used TIL production method is to isolate infiltrating lymphocytes from tumor tissues and then culture and expand these cells in vitro. (biomedcentral.com)
  • Vinyl chloride induced sister chromatid exchanges in human lymphocytes in vitro . (inchem.org)
  • It induced mutation in Chinese hamster cells and unscheduled DNA synthesis in rat hepatocytes in vitro and induced transformation in BALB/c 3T3 cells and virus-infected Syrian hamster cells. (inchem.org)
  • We aimed to investigate the prevalence and type of BRAF V600 mutations and the associations with clinicopathological variables in primary skin nodular melanoma cases in Yogyakarta and Central Java, Indonesia using pyrosequencing. (researchsquare.com)
  • BRAF V600 mutations of the V600E type were found in 21 (53.85%) specimens. (researchsquare.com)
  • The BRAF V600 is the most commonly found somatic mutation in melanomas and thus has become a potential marker and therapeutic target (2). (researchsquare.com)
  • Even nowadays, application of the BRAF V600 mutation for diagnostic and prognostic purposes is still under investigation. (researchsquare.com)
  • Asian melanoma cases differ in characteristics from Caucasians, such as predominance of the acral lentiginous subtype and low BRAF mutation prevalence. (researchsquare.com)
  • The prevalence of BRAF V600 mutations in melanoma patients from Indonesia has also been shown to be relatively low. (researchsquare.com)
  • In our previous study, we investigated the prevalence of the BRAF V600 mutation among Indonesian melanoma cases using real-time polymerase chain reaction (RT-PCR) as the detection method and obtained a low percentage compared to Asia and other countries (8). (researchsquare.com)
  • With clinical consideration that BRAF inhibitors are indicated for all BRAF V600 mutation-positive tumors, regardless of percentage, the detection of BRAF mutations must be done with more sensitive testing methods. (researchsquare.com)
  • With the higher sensitivity of this method, more patients with BRAF mutations might benefit from targeted therapy. (researchsquare.com)
  • The BRAF oncogene is an integral component of the MAP kinase pathway, and an activating V600E mutation occurs in 15% of sporadic colorectal cancer. (hindawi.com)
  • This review highlights the importance of the BRAF mutation occurring in colorectal cancer stratified for molecular background and discusses its prognostic and clinical significance. (hindawi.com)
  • In colorectal cancer, the presence of a BRAF mutation can be associated with an aggressive phenotype and is a key prognostic biomarker for poor outcome particularly in late-stage disease. (hindawi.com)
  • The BRAF V600E mutation occurs early in tumourigenesis and is highly correlated with the serrated neoplasia pathway of colorectal cancer. (hindawi.com)
  • Recent studies have also found that presence of the BRAF mutation has direct implications for clinical management as along with TNM stage, BRAF mutational status was the only molecular variable that independently accounted for poor survival [ 13 ], and studies have found that BRAF mutant cancers are refractory to anti-EGRF therapy [ 14 , 15 ]. (hindawi.com)
  • An activating hotspot mutation occurs at V600E and results in constitutive MAPK signalling and uncontrolled cellular growth. (hindawi.com)
  • Animal models of human BTK mutations are confined to mice at this time. (medscape.com)
  • Murine gene mutations in human counterparts may be associated with a clinical illness different from the illness seen in mice. (medscape.com)
  • Vinyl chloride induced chromosomal aberrations, sister chromatid exchanges and micronuclei in rodents exposed in vivo but did not induce mutation in the mouse spot test or dominant lethal mutations in rats or mice. (inchem.org)
  • Biomarkers of exposure (pyrethroids, organophosphates, carbamates, and thioethers in urine and butyrylcholinesterase activity in plasma), early effect (micronuclei in lymphocytes and reticulocytes, T-cell receptor mutation assay, chromosomal aberrations, comet assay and lymphocytes subpopulations) and susceptibility (genetic polymorphisms related to metabolism - EPHX1, GSTM1, GSTT1 and GSTP1 - and DNA repair-XRCC1 and XRCC2) were evaluated. (cdc.gov)
  • When compared to controls and organic farm ers, pesticide farm ers presented a significant increase of micronuclei in lymphocytes (frequency ratio, FR=2.80) and reticulocytes (FR=1.89), chromosomal aberrations (FR=2.19), DNA damage assessed by comet assay (mean ratio, MR=1.71), and a significant decrease in the proportion of B lymphocytes (MR=0.88). (cdc.gov)
  • Development and Perspectives of the Human Lymphocyte Micronucleus Assay. (powells.com)
  • The flow cytometry-based Pig-a assay detects cells deficient in Glycosylphosphatidylinositol (or GPI)-anchored surface markers and provides a rapid and cost-effective enumeration of cells that are presumed to contain mutations in the endogenous X-linked Pig-a gene. (fda.gov)
  • In addition, the JAK3 protein is important for the normal maturation of another type of lymphocyte called B cells. (medlineplus.gov)
  • Mutations in the JAK3 gene prevent the production of JAK3 protein or lead to production of a nonfunctional protein. (medlineplus.gov)
  • Outgrowth of CTL escape viruses required high viral loads and additional, possibly compensatory, mutations in the gag protein. (ox.ac.uk)
  • The mutation causes the cells to produce a distorted protein, which switches on the IRAK complex pathway, leading to activation of NF-kB, a protein that is essential for the growth and survival of Waldenström's tumor cells," Treon comments. (sciencedaily.com)
  • It is a 75 kD type I transmembrane protein expressed on lymphocytes, monocytes, and granulocytes. (biolegend.com)
  • In view of the quite low mutation rate of the N protein, the present vaccine strategy has the potential to control the replication of all emerging variants. (nature.com)
  • Effector lymphocytes function to eliminate the antigen, either by releasing antibodies (in the case of B cells), cytotoxic granules (cytotoxic T cells) or by signaling to other cells of the immune system (helper T cells). (wikipedia.org)
  • Genetic inactivation of the machinery or re-introduction of ANKRD52 frequent patient mutations dampens the JAK-STAT-interferon-γ signaling and antigen presentation in cancer cells, largely by abolishing miR-155-targeted silencing of suppressor of cytokine signaling 1 (SOCS1). (nature.com)
  • Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder of purine metabolism that leads to severe combined immunodeficiency (SCID) by primarily affecting lymphocyte development and function. (researchgate.net)
  • Researchers at the National Institutes of Health have identified a genetic mutation that accounts for a perplexing condition found in people with an inherited immunodeficiency. (nih.gov)
  • The NIAID and NCI investigators recognized that certain patients with an undefined form of combined immunodeficiency shared enough clinical features to make it likely that the cause might be a common genetic mutation. (nih.gov)
  • Although further study is required to determine if DOCK8 mutations occur in other people with similar disease symptoms, DOCK8 immunodeficiency syndrome may be a new PIDD. (nih.gov)
  • Current genetic toxicology assays can only estimate somatic-mutation rates by assaying the function of certain gene markers (e.g. (fda.gov)
  • Major drawbacks of this therapy are that RBV is not approved for administration to pregnant women and that the virus can acquire mutations, which render the intra-host population less sensitive or even resistant to RBV. (mdpi.com)
  • Some researchers believe that DNMT3A mutations cause hypomethylation of the whole genome, and this hypomethylation is often associated with a higher recurrence rate and worse OS ( 8 ). (frontiersin.org)
  • Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic. (oncotarget.com)
  • These environments could play a larger role in the development of certain lymphomas than inherited mutations. (york.ac.uk)
  • For example, we were able to demonstrate that mutations in a gene called EZH2 are present in more than 80 per cent of lymphomas derived from antibody-making lymphocytes. (bccancerfoundation.com)
  • Some rare lymphomas are Natural Killer cell (NK) lymphomas - NK cells are a type of T-cell lymphocyte. (lymphoma.org.au)
  • Hodgkin Lymphoma - all Hodgkin Lymphomas are lymphomas of B-cell lymphocytes. (lymphoma.org.au)
  • Non-Hodgkin Lymphoma (NHL) - these are lymphomas of all other B-cells or T-cell lymphocytes, including NK cells. (lymphoma.org.au)
  • Chromosomal aberrations were induced in peripheral blood lymphocytes of workers exposed to vinyl chloride at levels of 5-500 ppm (13-1300 mg/m 3 ). (inchem.org)
  • Lymphocytes include T cells (for cell-mediated, cytotoxic adaptive immunity), B cells (for humoral, antibody-driven adaptive immunity), and Innate lymphoid cells (ILCs) ("innate T cell-like" cells involved in mucosal immunity and homeostasis), of which natural killer cells are an important subtype (which functions in cell-mediated, cytotoxic innate immunity). (wikipedia.org)
  • Lymphocytes make up between 18% and 42% of circulating white blood cells. (wikipedia.org)
  • The three major types of lymphocyte are T cells, B cells and natural killer (NK) cells. (wikipedia.org)
  • They are named "natural killer cells" because they do not require prior activation in order to kill cells which are missing MHC class I. The X lymphocyte is a reported cell type expressing both a B-cell receptor and T-cell receptor and is hypothesized to be implicated in type 1 diabetes. (wikipedia.org)
  • Cancer cells acquire genetic heterogeneity to escape from immune surveillance during tumor evolution, but a systematic approach to distinguish driver from passenger mutations is lacking. (nature.com)
  • All recurrent mutations identified in mononuclear cells could be tracked back to the phenotypically defined hematopoietic stem cell (HSC) compartment in all investigated patients and were also present in downstream myeloid and erythroid progenitor cells. (nih.gov)
  • While in agreement with previous studies, little or no evidence for clonal ( SF3B1 mutation) involvement could be found in mature B cells, consistent involvement at the pro-B-cell progenitor stage was established, providing definitive evidence for SF3B1 mutations targeting lymphomyeloid HSCs and compatible with mutated SF3B1 negatively affecting lymphoid development. (nih.gov)
  • Researchers have developed a new technique to grow and sequence colonies of immune cells, giving new insights into how and when they accumulate mutations. (york.ac.uk)
  • In the study, researchers from the University of York, the Wellcome Sanger Institute, and collaborators grew and sequenced colonies of immune cells - lymphocytes known as B- and T-cells - from a single cell. (york.ac.uk)
  • Published in Nature, the research found that the mutations seen in healthy B cells were largely similar to those seen in cancerous B-cells, suggesting that the development of cancer arises from the same mutational processes. (york.ac.uk)
  • Understanding more about the factors that cause these mutations to develop into cancer in some cells and not others could help shed light on the origins of the disease. (york.ac.uk)
  • While cancer can develop at any point in a person's life, age can be a risk factor in some types of cancer as over time these cells acquire more genetic mutations, with some of these mutations giving a higher risk of developing cancer. (york.ac.uk)
  • They found that the number and patterns of mutations in B-cells and T-cells varied extensively from cell to cell. (york.ac.uk)
  • Somatic mutations are genetic alterations in cells that increase cancer risk. (fda.gov)
  • We sought to identify whether TTC7A mutations dysregulate epithelial cells only or whether a cell-intrinsic defect in lymphocytes or other cells contributes to disease manifestations. (nih.gov)
  • The effect of the Ttc7 fsn/fsn mutation on stromal cells was tested in a xenograft model in conjunction with transcriptomic analysis of Ttc7 fsn/fsn fibroblasts. (nih.gov)
  • We observed that the severity of epithelial hyperproliferation was accentuated by lymphocytes, whereas the phenotype was not induced by transfer of Ttc7-mutated hematopoietic cells. (nih.gov)
  • T lymphocytes (T cells) are pivotal in the cellular immune response ( 1 , 2 ). (frontiersin.org)
  • We found that tumor cells in 90 percent of the patients we tested contained a single point mutation, an error in one of the bases that make up the 'rungs' of the DNA helix," says Steven Treon, MD, PhD, who led the research with his Dana-Farber colleague Zachary Hunter. (sciencedaily.com)
  • Waldenström's macroglobulinemia is a slow-growing form of non-Hodgkin lymphoma that originates in white blood cells known as B lymphocytes. (sciencedaily.com)
  • Ninety percent of the tumor cells had a point mutation in the gene MYD88. (sciencedaily.com)
  • During the study duplicate cultures of human lymphocyte cells, treated with test substance, were evaluated for chromosome aberrations over at least three dose levels. (europa.eu)
  • In lymphoid cancer the cells which turn malignant are lymphocytes, the white blood cells of which our immune system is composed. (bccancerfoundation.com)
  • Our immune system lymphocytes face a unique challenge compared to most cells in our body. (bccancerfoundation.com)
  • Second, lymphocytes must tinker with and redesign their own genetic code so that they can make highly specific antibodies (immunoglobulins) that recognize specific germs, for example, influenza, and targeted killer cells that can identify other cells in the body that have been invaded by germs, for example, tuberculosis. (bccancerfoundation.com)
  • Two types of white blood cells, T and B cells ( lymphocytes). (msdmanuals.com)
  • Lymphoma is a type of cancer that affects your blood cells called lymphocytes. (lymphoma.org.au)
  • Our lymphocytes are white blood cells that are a big part of our immune system. (lymphoma.org.au)
  • Unlike our other blood cells, lymphocytes usually live in our lymphatic system rather than in our blood stream. (lymphoma.org.au)
  • The mucosal immune system is uniquely regulated to manage its constant exposure to viruses, parasites, and bacterial antigens, all of which are in close proximity to a large reservoir of lymphocytes, macrophages, and dendritic cells. (medscape.com)
  • Our research is another step towards understanding how mutations in lymphocytes accumulate over time and the impact that these have on the ageing process. (york.ac.uk)
  • The lymphocytes involved in adaptive immunity (i.e. (wikipedia.org)
  • Dr Peter Campbell, co-senior author from the Wellcome Sanger Institute, added: "Our research begins to fill in the missing gaps in knowledge around how mutations in the adaptive immune system feed into ageing. (york.ac.uk)
  • These models, together with bone marrow chimeras, were used to explore the role of adaptive and innate lymphocytes in the flaky skin phenotype. (nih.gov)
  • We investigated the origin of SF3B1 mutations within the bone marrow hematopoietic stem and progenitor cell compartments in patients with MDS-RS. (nih.gov)
  • Mutagenesis research has two aims: (1) to understand the molecular mechanisms leading to mutations, and (2) to prevent a thoughtless introduction of mutagenic agents into our environment. (powells.com)
  • Molecular analysis showed mutations in both EGFR and TP53 . (spandidos-publications.com)
  • About 25% of AML cases are accompanied by DNA (cytosine-5)-methyltransferase 3A (DNMT3A) molecular mutation. (frontiersin.org)
  • citation needed] Microscopically, in a Wright's stained peripheral blood smear, a normal lymphocyte has a large, dark-staining nucleus with little to no eosinophilic cytoplasm. (wikipedia.org)
  • Human peripheral blood lymphocytes were stained with CD120b (clone 3G7A02) PE/Cyanine7 (filled histogram) or rat IgG2a, κ PE/Cyanine7 isotype control (open histogram). (biolegend.com)
  • It relieved the inhibitory effect of DNMT3A mutation, promoted the phenotypic recovery of the co-cultured macrophages, eliminated resistance, and regulated the immune microenvironment. (frontiersin.org)
  • The new field of applied genetic research, genetic toxicology and mutation research investigates the mutagenicity and cancerogenicity of chemicals and other agents. (powells.com)
  • Amitrole induces aneuploidy in yeast, but not mutation in yeast or Aspergillus nidulans . (inchem.org)
  • Another research area that interests Dr. Revollo is the direct detection of somatic mutations. (fda.gov)
  • In three of these patients the mutation occurred late, coinciding with disease progression. (ox.ac.uk)
  • In a fifth patient, a R264G mutation was detected when HIV-1 disease progressed. (ox.ac.uk)
  • Mutations in tetratricopeptide repeat domain 7A (TTC7A) and its mouse orthologue, Ttc7, result in a multisystemic disease, mostly affecting the epithelial barriers and immune system. (nih.gov)
  • Lymphocytes are a type of white blood cell that support our immune system by fighting infection and disease. (lymphoma.org.au)
  • Our lymphatic system is also where our B-cell lymphocytes make disease fighting antibodies. (lymphoma.org.au)
  • Because our lymphocytes fight infection and disease, they are part of our immune system. (lymphoma.org.au)
  • Specifically, lymphoma is caused by mutations in either the B- or T-cell lymphocytes, which cause them to grow and multiply out of control. (lymphomainfo.net)
  • Mutations can occur in any area of the gene. (medscape.com)
  • Use of virus derived from an infec- tion with mosquito salivary gland extracts than after injec- tious clone minimized attenuating mutations that occur tion with virus alone ( 22 ). (cdc.gov)
  • Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. (medlineplus.gov)
  • The researchers discovered that people with the unique form of HIES had mutations in a gene called DOCK8 that led to deletions in parts of the gene. (nih.gov)
  • This shortage of functional lymphocytes causes people with JAK3 -deficient SCID to be susceptible to infections. (medlineplus.gov)
  • For the past several years, efforts have been made to explore functional consequences associated with the DNMT3A mutation. (frontiersin.org)
  • Further research into how much these mutations and processes vary between tissues is needed to investigate if these offer any avenues for future treatment. (york.ac.uk)
  • This latter pathway involves the previously well-defined series of genetic aberrations such as APC mutation and chromosomal instability and accounts for the majority of colorectal cancer [ 12 ]. (hindawi.com)
  • Scientists at Dana-Farber Cancer Institute have identified a gene mutation that underlies the vast majority of cases of Waldenström's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find a genetic cause. (sciencedaily.com)
  • All lymphocytes originate, during this process, from a common lymphoid progenitor before differentiating into their distinct lymphocyte types. (wikipedia.org)
  • A lymphocyte is a type of white blood cell (leukocyte) in the immune system of most vertebrates. (wikipedia.org)
  • They are the main type of cell found in lymph, which prompted the name "lymphocyte" (with cyte meaning cell). (wikipedia.org)
  • Lymphocytes in lungs are maintained separately from the pool of circulating lymphocytes, and their continuous loss through intraepithelial migration toward the airways is constantly replenished by homeostatic proliferation 9 . (nature.com)
  • Its occurrence was associated with a glutamic acid to aspartic acid mutation at residue 260. (ox.ac.uk)
  • The patient has a mutation on exon 15, A504T, which changed an asparagine residue to a valine residue. (medscape.com)
  • In addition, as lymphocytes spread through the body to survey for infections, they are exposed to additional DNA damaging agents, which can further increase the number of mutations. (york.ac.uk)
  • However, it is now clear that CTL escape mutations can also confer a fitness cost , and there is increasing evidence to suggest that in some cases, e.g., escape from HLA-B *57/B*5801-restricted responses, the costs to the escape virus may affect the clinical course of infection . (bvsalud.org)