• Aneuploidy is defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
  • Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. (wikipedia.org)
  • Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). (wikipedia.org)
  • Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. (wikipedia.org)
  • Most cells in the human body have 23 pairs of chromosomes, or a total of 46 chromosomes. (wikipedia.org)
  • We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex chromosomes, common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low-risk pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis. (nih.gov)
  • Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated. (medlineplus.gov)
  • The resulting errors in the sorting of chromosomes typically leads to the aneuploidy that occurs in MVA syndrome. (medlineplus.gov)
  • Aneuploidy is known to confer cellular biology effects both dependent and independent of the particular chromosomes altered. (techscience.com)
  • Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
  • In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
  • Humans have 23 pairs of chromosomes, but genetic accidents can alter that number, a condition called aneuploidy. (livescience.com)
  • Some aneuploidies cause disorders such as Down syndrome , which occurs when there are three chromosomes on what should be the 21st pair. (livescience.com)
  • The frequency of cells containing 0 or 2 human chromosomes in the progeny of chemically-treated monochromosomal hybrid cells provided a direct measure of aneuploidy. (epa.gov)
  • Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder . (wikidoc.org)
  • Aneuploidy of sex chromosomes can also occur. (wikidoc.org)
  • By using this strategy, the researchers believed they could detect higher-than normal amounts of DNA belonging to the three chromosomes involved in the most common aneuploidies - chromosomes 21, 18, and 13. (medgadget.com)
  • A short-term assay utilizing a human/mouse monochromosomal hybrid cell line R3-5, to detect chemically induced aneuploidy in mammalian cells is described. (epa.gov)
  • Aneuploidy in mammalian oocytes and the impact of maternal ageing. (uni-goettingen.de)
  • Chromosome 21 aneuploid cells constitute ∼4% of the estimated one trillion cells in the human brain and include non-neuronal cells and postmitotic neurons identified by the neuronspecific nuclear protein marker. (jneurosci.org)
  • Together, these data demonstrate that human brain cells (both neurons and non-neuronal cells) can be aneuploid and that the resulting genetic mosaicism is a normal feature of the human CNS. (jneurosci.org)
  • About 68% of human solid tumors are aneuploid. (wikipedia.org)
  • Here, we examined the consequences of aneuploidy on the proteome of aneuploid budding yeast strains. (elifesciences.org)
  • Interestingly, increased protein turnover attenuates ROS levels and this novel aneuploidy-associated signature and improves the fitness of most aneuploid strains. (elifesciences.org)
  • In addition, it is of medical relevance: depending on the age of the woman, 10% to more than 50% of human eggs are aneuploid due to chromosome segregation errors during the first and second meiotic division. (uni-goettingen.de)
  • The most frequent aneuploidy in humans is trisomy 16 and fetuses affected with the full version of this chromosome abnormality do not survive to term, although it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all. (wikipedia.org)
  • In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to those with full trisomy. (wikipedia.org)
  • Defective cytokinesis was also observed which resulted in gross aneuploidy and polyploidy. (arizona.edu)
  • Chen, XB & Regan, JW 2006, ' Activation of the human FP prostanoid receptor disrupts mitosis progression and generates aneuploidy and polyploidy ', Cellular and Molecular Life Sciences , vol. 63, no. 1, pp. 112-121. (arizona.edu)
  • The results revealed that in the irradiated group there was a marked increase in aneuploidy, polyploidy, endoreduplication and structural chromosomal damage. (dtic.mil)
  • The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. (wikipedia.org)
  • Mutations in myosin VIIa (MyoVIIa), an unconventional myosin, have been shown to cause Usher Syndrome Type 1B in humans. (duke.edu)
  • The most recognized forms of aneuploidy are the trisomy diseases of Down syndrome and Edwards syndrome . (wikidoc.org)
  • A single human chromosome transferred into mouse cells was used as a cytogenetic marker to quantitate abnormal chromosome segregation following chemical treatment. (epa.gov)
  • High hyperdiploid acute lymphoblastic leukemia (HeH ALL), one of the most common childhood malignancies, is driven by nonrandom aneuploidy (abnormal chromosome numbers) mainly comprising chromosomal gains. (lu.se)
  • Aneuploidy arises from errors in chromosome segregation, which can go wrong in several ways. (wikipedia.org)
  • In this study, we investigate how aneuploidy in HeH ALL arises. (lu.se)
  • This shows that the aneuploidy in HeH ALL likely arises by an initial tripolar mitosis in a diploid cell followed by clonal evolution, in line with a punctuated evolution model. (lu.se)
  • However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a characteristic of many types of tumorigenesis (see below). (wikipedia.org)
  • We use these rich data to inform clinical care and computationally reconstruct genetic influences in the developing human brain. (nih.gov)
  • Scholars@Duke publication: Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. (duke.edu)
  • OBJECTIVE: To determine if preimplantation genetic testing for aneuploidy (PGT-A) is cost-effective for patients undergoing in vitro fertilization (IVF). (duke.edu)
  • A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes. (lu.se)
  • In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests which quickly and economically analyze the entire human genome. (cdc.gov)
  • Studies find CRISPR gene-editing of human embryos give rise to unwanted results. (frontlinegenomics.com)
  • Time-lapse images of human embryos in the first two days of development. (livescience.com)
  • They took 75 human embryos that had been frozen at the single-cell phase and cultured them in Petri dishes for two days, taking a microscopic snapshot of each embryo every five minutes. (livescience.com)
  • Studies of early embryo development are carried out in bovine embryos, which closely resemble human embryos. (uni-goettingen.de)
  • Here we performed cell cycle analyses on HEK cells stably expressing the human FP receptor and found that treatment with PGF 2α delays mitosis and is associated with an increased expression of cyclin B1 and Cdc2 kinase activity. (arizona.edu)
  • Here, we challenge this view and show that HPV-18 E2 over-activates the Spindle Assembly Checkpoint (SAC) and induces DNA breaks in mitosis followed by aneuploidy. (docksci.com)
  • This system has the capability to detect gain as well as loss of a chromosome resulting from nondisjunction or other mechanisms leading to aneuploidy. (epa.gov)
  • Chromosome segregation errors during meiosis are the leading cause of birth defects and developmental delays in humans ( H assold and H unt 2001 ). (biorxiv.org)
  • Aneuploidy is associated with genomic instability and may underlie the tumor-promoting properties of PGF 2α . (arizona.edu)
  • Mechanism of spindle pole organization and instability in human oocytes. (uni-goettingen.de)
  • Single cell whole genome sequencing of 2847 cells from nine primary cases and one normal bone marrow reveals that HeH ALL generally display low chromosomal heterogeneity, indicating that they are not characterized by chromosomal instability and showing that aneuploidy-driven malignancies are not necessarily chromosomally heterogeneous. (lu.se)
  • The glossary features nearly 250 terms explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute. (genome.gov)
  • Initially characterized by their function in repair of DNA, and their role in the etiology of human colorectal cancer, the MMR family is important for genome stability in a variety of organisms. (cornell.edu)
  • Despite its profound effects, the cellular processes affected by aneuploidy are not well characterized. (elifesciences.org)
  • The human brain can be mapped in large numbers of individuals using neuroimaging, but this approach provides little cellular or molecular information. (nih.gov)
  • Dr. Jeang will speak on research insights gained over the past 25 years on how HTLV-1 infection and Tax expression create nuclear damage and aneuploidy in the process of cellular transformation. (nih.gov)
  • We therefore suggest that energy loss (e.g., through impaired mitochondria) or disturbance of information (e.g., through mutations or aneuploidy) or changes in the composition or distribution of matter (e.g., through micro-environmental changes or toxic agents) can irreversibly disturb molecular mechanisms, leading to increased local entropy of cellular functions and structures. (frontiersin.org)
  • Tax can also immortalize human primary T lymphocytes. (nih.gov)
  • No aneuploidy or chromosomal aberration is found in cultured human lymphocytes. (inchem.org)
  • Primary human fibroblasts were treated with 0 to 6.67microg/cm2 amosite for comparison. (cdc.gov)
  • In human fibroblasts, effective doses for inducing chromosome aberrations were 2.67 and 6.67microg/cm2. (cdc.gov)
  • Conclusion: DNA aneuploidy may be a key indicator for tumors activity and malignancy in SGTs, while the SPF has a minor role in the evaluation of SGTs activity. (researchgate.net)
  • Tax-expressing cells also exhibit nuclear morphological aberrancy, frequent multinucleation, aneuploidy, and loss of function of the tumor suppressor protein p53. (nih.gov)
  • The most commonly reported phenotype is the activation of senescence programs in association with aneuploidy. (techscience.com)
  • Repair of mitomycin-C-induced chromosomal aberrations was impaired in RAD51B/Rad51b-c.92delT human and mouse somatic cells in vitro and in explanted mouse bone marrow cells. (nature.com)
  • The sequencing approach is polymorphism independent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. (medgadget.com)
  • Toward determining the presence of constitutional aneuploidy in the human brain, we report here an analysis of the frequency of chromosome 21 gain and loss among neurons and non-neuronal cells isolated from the cerebral cortex and hippocampus of normal individuals ranging from 2 to 86 years of age. (jneurosci.org)
  • When aneuploidy is detected in a fraction of cells in an individual, it is called chromosomal mosaicism. (wikipedia.org)
  • Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. (elifesciences.org)
  • One biologically relevant variable is readily inferred from scRNA-seq gene count tables regardless of individual gene representation within single cells: aneuploidy. (techscience.com)
  • The cells will respond to stimulation with human growth hormone. (sigmaaldrich.com)
  • Hep G2 cell line human has been used to study the cytotoxicity of carbon monoxide-releasing molecules and organic solvents on HepG2 cells and to evaluate the antiproliferative activity of aqueous extracellular polysaccharides (AEPS) for HepG2 using the MTT colorimetric assay. (sigmaaldrich.com)
  • However, successful transformation of human cells has not been established using Tax. (nih.gov)
  • Asbestos-Induced Mesothelioma and Chromosomal Abnormalities in Human Mesothelial Cells In Vitro. (cdc.gov)
  • The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (cdc.gov)
  • Human primary pleural mesothelial cells obtained from noncancerous donors by pleural effusion were cultured and treated with 0 to 6.67 micrograms per square centimeter (microg/cm2) amosite (12172735) asbestos. (cdc.gov)
  • The human chromosome present in the mouse cells can be readily identified by differential staining procedures. (epa.gov)
  • Aneuploidy is common in cancerous cells. (wikidoc.org)
  • Daneshpajooh M, Bacos K, Bysani M, Bagge A, Ottosson Laakso E, Vikman P, Eliasson L, Mulder H, Ling C. HDAC7 is overexpressed in human diabetic islets and impairs insulin secretion in rat islets and clonal beta cells. (lu.se)
  • Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered metabolism and redox homeostasis. (elifesciences.org)
  • Aneuploidy, the loss or gain of chromosome arms, appears less prevalent in normal tissue in these clonal mutant next-generation sequencing analyses. (techscience.com)
  • Given that aneuploidy is (a) known to contribute to cell biology and (b) is present at some detectable level in many cell types, it is valuable for single-cell sequencing studies to include aneuploidy information in their analyses. (techscience.com)
  • Primary literature searches via MEDLINE can also provide information about human data, clinical trials, and meta-analyses regarding a particular drug. (medscape.com)
  • Trisomy 16 is the most common trisomy in humans, occurring in more than 1% of pregnancies. (wikidoc.org)
  • Our results show that aneuploidy causes alterations in metabolism and redox homeostasis. (elifesciences.org)
  • Whereas over 900 tools are available to analyze scRNA-seq data (as monitored on https://www.scrna-tools.org/), only a handful output aneuploidy data or its sub-chromosomal equivalent copy number alterations (CNAs). (techscience.com)
  • XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
  • This makes aneuploidy in eggs the most common cause of pregnancy losses and age-related infertility. (uni-goettingen.de)
  • Some yeasts and molds that are common in the environment can infect humans and cause a range of diseases, from superficial (e.g., athlete s foot) to severe (e.g., cryptococcal meningitis). (cshlpress.com)
  • Chromosome abnormalities are detected in 1 of 160 live human births. (wikipedia.org)
  • Contributors examine their life cycles, nutritional and metabolic requirements, and morphological characteristics, as well as their interactions with humans-their modes of dissemination and penetration, the mechanisms they use to evade the immune system, and their effects on target organs. (cshlpress.com)
  • abstract = "Hexavalent chromium [Cr(VI)] compounds are established human lung carcinogens. (elsevierpure.com)
  • While one might predict that simply mapping read counts per chromosome readily identifies aneuploidy, the reality is that the data are too heterogeneous to quickly determine aneuploidy by eye. (techscience.com)
  • Aneuploidy effects on human gene expression across three cell types. (nih.gov)
  • Here, using double-label fluorescence in situ hybridization for the autosome chromosome 21 (chromosome 21 point probes combined with chromosome 21 "paint" probes), along with immunocytochemistry and cell sorting, we present evidence for chromosome gain and loss in the human brain. (jneurosci.org)
  • Human T-cell Leukemia Virus type 1 (HTLV-1) is a delta-retrovirus that infects approximately 20 million individuals worldwide. (nih.gov)
  • Use of a Human/Mouse Hybrid Cell Line to Detect Aneuploidy Induced by Environmental Chemicals. (epa.gov)
  • Some people with TRIP13 gene mutations have chromosome abnormalities that indicate problems with chromosome sorting but do not develop aneuploidy. (medlineplus.gov)
  • however, the relevance to humans is not known. (jneurosci.org)
  • It is difficult to assess mice, which cannot repair certain In rodents, multiple studies showed the relevance to humans of rodent types of oxidative DNA damage, but that in utero exposure to arsenic via studies that use multiple agents, one not in Ogg+/+ mic e (IARC, 2012 ). (who.int)
  • No data were available to evaluate the reproductive effects or prenatal toxicity of amitrole to humans. (inchem.org)
  • BIBLIOGRAPHY INTRODUCTION The Environmental Health Criteria (EHC) monographs produced by the International Programme on Chemical Safety include an assessment of the effects on the environment and on human health of exposure to a chemical or combination of chemicals, or physical or biological agents. (inchem.org)
  • The most prevalent (two studies) and CD1 mice (IARC, cifically including beryllium and source of human exposure to ar- 2012 ). (who.int)
  • Public health officials and others concerned with appropriate actions to take at hazardous waste sites may want information on levels of exposure associated with more subtle effects in humans or animals (LOAELs) or exposure levels below which no adverse effects (NOAELs) have been observed. (cdc.gov)
  • Estimates of exposure levels posing minimal risk to humans (Minimal Risk Levels or MRLs) have been made for methyl parathion. (cdc.gov)
  • An MRL is defined as an estimate of daily human exposure to a substance that is likely to be without an appreciable risk of adverse effects (noncarcinogenic) over a specified duration of exposure. (cdc.gov)
  • As these kinds of health effects data become available and methods to assess levels of significant human exposure improve, these MRLs will be revised. (cdc.gov)
  • Topics are selected on the basis of two main criteria: (a) there is evidence of human exposure, and (b) there is some evidence or suspicion of carcinogenicity. (who.int)
  • Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal age, abnormal maternal serum screen, or isolated ultrasound markers. (nih.gov)
  • maternal consumption of sodium of which is an arsenic compound of Multiple studies in humans have arsenite in drinking-water during concern. (who.int)
  • We use a combination of behavioral, neuroimaging and postmortem data to map normative sex-differences in the human brain and test if these intersect with the biology of neuropsychiatric disorders. (nih.gov)
  • His research combines neuroimaging, genomic and bioinformatic techniques to better understand the architecture of human brain development in health, and in neurogenetic disorders that increase risk for psychiatric symptoms. (nih.gov)
  • Other sex chromosomal aneuploidies are included in the KS group of chromosomal disorders. (medscape.com)
  • Other aneuploidies are incompatible with life, causing early miscarriage or later stillbirth. (livescience.com)
  • Discovery of UFO proteins - the product of virus-human hybrid genes. (frontlinegenomics.com)
  • Since hundreds of genes are present on chromosome arms, high-quality inferences of aneuploidy can be made from scRNA-seq datasets. (techscience.com)
  • X-chromosome influences on neuroanatomical variation in humans. (nih.gov)
  • Aneuploidy variation of Leishmania isolates from US hunting hounds. (cdc.gov)
  • Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)
  • 100C (IARC, 2012 ) as carcinogenic and pentavalent methylated metab- male mice), and after weaning until to humans (Group 1). (who.int)
  • In 1969, the International Agency for Research on Cancer (IARC) initiated a programme to evaluate the carcinogenic risk of chemicals to humans and to produce monographs on individual chemicals. (who.int)
  • With Supplement 6 (IARC, 1987a), the title of the series was modified from IARC Monographs on the Evaluation of the Carcinogenic Risk of Chemicals to Humans to IARC Monographs on the Evaluation of Carcinogenic Risks to Humans , in order to reflect the widened scope of the programme. (who.int)
  • The criteria established in 1971 to evaluate carcinogenic risk to humans were adopted by the working groups whose deliberations resulted in the first 16 volumes of the IARC Monographs series . (who.int)
  • The Monographs represent the first step in carcinogenic risk assessment, which involves examination of all relevant information in order to assess the strength of the available evidence that certain exposures could alter the incidence of cancer in humans. (who.int)
  • Chemical analogues and compounds with biological or physical characteristics similar to those of suspected carcinogens may also be considered, even in the absence of data on a possible carcinogenic effect in humans or experimental animals. (who.int)
  • The role of lamin B2 in human diseases. (nih.gov)
  • Estimates of levels posing minimal risk to humans (minimal risk levels or MRLs) may be of interest to health professionals and citizens alike. (cdc.gov)
  • The GHS is a Communicating the hazards of dangerous chemicals to workers consistent and coherent approach to identifying the hazards of and the public is a key foundation for protecting human health and chemicals, and providing information on these hazards and associ- the environment. (cdc.gov)
  • The Monographs programme has since been expanded to include consideration of exposures to complex mixtures of chemicals (which occur, for example, in some occupations and as a result of human habits) and of exposures to other agents, such as radiation and viruses. (who.int)
  • A growing number of publications are based on results from the Human Tissue Laboratory. (lu.se)
  • These data suggest that one possible mechanism for lead chromate-induced carcinogenesis is through centrosome dysfunction, leading to the induction of aneuploidy. (elsevierpure.com)
  • The findings offer some insight into why early human development is so likely to go wrong, Pera said. (livescience.com)
  • The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)