• Our MPhil, MD and PhD in Genetics look at the causes of genetic disease. (ncl.ac.uk)
  • Molecular genetics focuses on the structure and function of the genetic units, ie, the chemical composition of genes and their expression in determining the structure of proteins, the most important functional components of cells. (thecanadianencyclopedia.ca)
  • Population genetics analyses the pattern of distribution of genes in populations of organisms, and changes in the genetic structure of populations. (thecanadianencyclopedia.ca)
  • The total genetic complement of a cell or organism is called a genome. (thecanadianencyclopedia.ca)
  • Inherited genetic effects pertain to somatic and germ cell DNA transmitted through mitosis or meiosis, respectively. (cdc.gov)
  • Dr. Henri Woelders, of Wageningen Livestock Research (WLR) and the Centre for Genetic Resources, the Netherlands (CGN) presented on the potential of cryopreservation and use of various types of germplasm in pigs and chicken, focussing on embryos, gonads, primordial germ cells and semen, and including some highlights from the EU Horizon 2020 IMAGE project (LINK). (wur.nl)
  • This study is the first to explain how a gene-AMACR-is regulated in relation to cancer development and to identify specific genetic events (a polymorphism and somatic cell mutations) related to colon cancer. (sciencedaily.com)
  • This type of genetic change, called a somatic mutation, is not inherited. (medlineplus.gov)
  • Deeper understanding of the pathobiology of non-small cell lung cancer (NSCLC) has led to the development of small molecules that target genetic mutations known to play critical roles in the progression to metastatic disease. (medscape.com)
  • Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
  • give an account of different types of genetic variation in man and explain how these relate to phenotype and risk of disease, · explain basic hereditary patterns and population genetic concepts, · give an account of how constitutional and somatic gene variants can contribute to cancer development, · give an account of molecular genetic methods and models for studying the presence and effect of different genetic variants. (lu.se)
  • Also somatic genetic changes in cancer cells are included. (lu.se)
  • DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)
  • 2. Nuclear transfer is a technique used to duplicate genetic material by creating an embryo through the transfer and fusion of a diploid cell in an enucleated female oocyte.2 Cloning has a broader meaning than nuclear transfer as it also involves gene replication and natural or induced embryo splitting (see Annex 1). (who.int)
  • A somatic mutation occurs in a single cell. (medlineplus.gov)
  • As that cell continues to grow and divide, the cells derived from it also have the same mutation. (medlineplus.gov)
  • cells that arise from that abnormal cell have the mutation, while the body's other cells do not. (medlineplus.gov)
  • If a mutation causes a tumor suppression gene to turn off, it can no longer control cell growth. (healthline.com)
  • DNA mutation in a sperm or egg cell causes these variants, and a parent can pass them to their offspring. (healthline.com)
  • This suggests that a typical individual possesses ~80 somatic single-nucleotide variants present in ≥2% of cells-comparable to the number of de novo germline mutations per generation-with about half of individuals having at least one potentially function-altering somatic mutation somewhere in the cortex. (nih.gov)
  • This mutation is acquired during a person's lifetime and is present only in tumor cells. (medlineplus.gov)
  • This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. (medlineplus.gov)
  • This alteration is called a somatic mutation. (medlineplus.gov)
  • Rearranged during transfection (RET), kinase alterations, which include fusions and activating point mutation, lead to overactive RET signaling and uncontrolled cell growth. (medscape.com)
  • The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. (lu.se)
  • To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures of the underlying processes. (lu.se)
  • Complex relationships between somatic mutation prevalence and transcription were detected. (lu.se)
  • These results provide new mechanistic insights into the role of RAD51B not only in meiosis but in the maintenance of somatic genome stability. (nature.com)
  • studies on cell cycle regulation and genome instability. (ncl.ac.uk)
  • Dr. Cong's group is developing novel genome technology for genome engineering and single-cell genomics, leveraging scalable computational methods. (stanford.edu)
  • We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors. (nih.gov)
  • Ongoing clinical trials use CRISPR for somatic cell genome editing to treat hereditary diseases or cancer. (cdc.gov)
  • In these studies, cells are either removed and edited in tissue culture and then readministered to the patient (ex vivo), or genome editors are packaged within viral vectors or lipid nanoparticles and given intravenously to home to specific tissues (in vivo). (cdc.gov)
  • The course covers basics of genetics and genomics with a focus on man. (lu.se)
  • This includes the analysis of genes in germline stem cell proliferation and differentiation. (ncl.ac.uk)
  • Transmission genetics is concerned with identifying the genes that affect a particular characteristic, and also the patterns by which these genes are transmitted from generation to generation, or from cell to cell. (thecanadianencyclopedia.ca)
  • Tumor suppressor genes typically slow down cell growth and division. (healthline.com)
  • The FLI protein controls the growth and development of some cell types by regulating the transcription of certain genes. (medlineplus.gov)
  • Genes are contained in chromosomes in the cell nucleus and mitochondria. (msdmanuals.com)
  • Single-Cell Transcriptomics Reveals that Differentiation and Spatial Signatures Shape Epidermal and Hair Follicle Heterogeneity. (crossref.org)
  • and (3) the Gene Rearrangement Theory, which holds that antibody diversity is generated by the rearrangement of IMMUNOGLOBULIN VARIABLE REGION gene segments during the differentiation of the ANTIBODY-PRODUCING CELLS. (bvsalud.org)
  • Meiosis is a sexual division that halves the diploid somatic chromosomal complement to a haploid state. (nature.com)
  • These are the processes of cell division that involve the formation of either new body cells (mitosis) or new reproductive cells in the gonads (meiosis). (cdc.gov)
  • It includes meiosis, Mendelian inheritance, linkage analysis and population genetics. (lu.se)
  • Germ cells (egg and sperm) divide through meiosis, which reduces the number of chromosomes to 23-half the number in somatic cells. (msdmanuals.com)
  • More recently, his group invented tools for cleavage-free large gene insertion via mining microbial recombination protein, and developed single-cell tracking approach for studying cancer biology and cancer immunology. (stanford.edu)
  • Genetics is that subdiscipline of biology devoted to the study of heredity, the phenomenon by which organisms pass on their characteristics to their offspring. (thecanadianencyclopedia.ca)
  • From virtual animal dissections to units on energy, cells, plants, and genetics, Visible Biology is a visual guide that immerses students in 3D models and simulations of biological concepts and processes. (visiblebody.com)
  • On the Visible Biology Learn Site, students can explore 3D models of cells, study detailed images, and familiarize themselves with various organelles and their functions. (visiblebody.com)
  • Completed course in the biology of the cell and chemistry (BIMB10) with passed scientific portfolio or the equivalent. (lu.se)
  • Proliferation and cell viability were assayed by means of the enzymatic cleavage of the tetrazolium salt WST-1 to formazan dye by cellular mitochondrial dehydrogenases. (scirp.org)
  • This dysregulation of transcription leads to uncontrolled growth and division (proliferation) and abnormal maturation and survival of cells, causing tumor development. (medlineplus.gov)
  • Plasma cell lesions are the neoplastic (clonal) proliferation of plasma cells involving single bones (plasmacytoma) or multiple bones (multiple myeloma). (medscape.com)
  • Plasma cell myeloma (multiple myeloma, myelomatosis, medullary plasmacytoma) is a bone marrow-based, malignant disorder of postgerminal center B-cells that is characterized by a clonal proliferation of plasma cells, with associated serum and/or urine monoclonal proteins. (medscape.com)
  • Cryopreservation and transfer of gonads was shown to be an effective means in bird and mammalian species, while primordial germ cells offer possibilities and potential advantages in bird and fish species. (wur.nl)
  • Embryonic stem cells (ESCs) from the 'inner cell mass' of an early embryo give rise to all future cells and tissue of an animal, including the primordial germ cells, which ultimately form the germ cells (sperm or oocytes). (wur.nl)
  • The American Joint Committee on Cancer (AJCC) tumor-node-metastasis (TNM) classification and the International Federation of Gynecology and Obstetrics (FIGO) staging system for germ cell tumors are listed below (see Tables 1 and 2). (medscape.com)
  • Asymptomatic plasma cell myeloma is a plasma cell neoplasm defined by the presence of serum monoclonal protein of 3.0 gm/dL or greater (by electrophoresis) and/or clonal plasma cells in the bone marrow of 10% or greater, without evidence of end-organ damage (hypercalcemia, renal insufficiency, anemia, lytic lesions of bone). (medscape.com)
  • Symptomatic plasma cell myeloma is a plasma cell neoplasm defined as the presence of end-organ damage (hypercalcemia, renal insufficiency, anemia, lytic lesions of bone) in a patient with a monoclonal protein (of any amount) and clonal plasma cells in the bone marrow (of any amount) or plasmacytoma. (medscape.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)
  • Also in vitro, the ES cells can be used to generate various types of cells and tissues. (wur.nl)
  • Yamanaka's Nobel Prize-winning research paved the way for similar in vitro development from induced pluripotent stem cells (iPSCs). (wur.nl)
  • The discovery that aHUS is a disease of complement dysregulation has led to a specific interest in complement genetics. (ncl.ac.uk)
  • In humans, somatic (nongerm) cell nuclei normally have 46 chromosomes in 23 pairs. (msdmanuals.com)
  • However, a comprehensive evaluation of the involvement of RNA processing factors in the reprogramming of somatic mammalian cells is lacking. (nih.gov)
  • Here, we used data from a large number of studies carried out in three mammalian species, mouse, chimpanzee and human, to uncover consistent changes in gene expression upon reprogramming of somatic cells. (nih.gov)
  • Genetics of somatic mammalian cells. (wikidata.org)
  • The increased stability of the bifunctional protein may be a factor in its evolutionary selection in mammalian cells. (unboundmedicine.com)
  • Along with the reorganization of epigenetic and transcriptional networks, somatic cell reprogramming brings about numerous changes at the level of RNA processing. (nih.gov)
  • A stochastic epigenetic switch controls the dynamics of T-cell lineage commitment. (crossref.org)
  • These preparatory interregional and interdisciplinary meetings focused on the following areas: cloning and human reproductive health, biologicals, organ transplantation, research, and medical genetics. (who.int)
  • Indeed, the potent pathotropic migratory properties of BMSCs and ability to circumvent both the complications associated with immune rejection of allogenic cells and many of the moral reasons associated with embryonic stem cell use suggest that BMSCs are most promising stem cells as a potential target for the clinical use of genetically engineered stem cells [ 14 , 15 ]. (hindawi.com)
  • The IDH1 gene mutations that cause Maffucci syndrome are somatic, which means they occur during a person's lifetime and are not inherited. (medlineplus.gov)
  • As in Maffucci syndrome, the IDH1 gene mutations that cause Ollier disease are somatic gain-of-function mutations and are thought to occur early in development, resulting in mosaicism. (medlineplus.gov)
  • Most cancers are known as somatic variants. (healthline.com)
  • DNA damage in a somatic cell causes these variants. (healthline.com)
  • We observe a mean of 26 somatic single-nucleotide variants per brain present in ≥4% of cells, with enrichment of mutations in coding and putative regulatory regions. (nih.gov)
  • Lamins are intermediate filament proteins comprising a major structural component of the nuclear lamina, which underlies the inner membrane of the nuclear envelope in most somatic cells. (bmj.com)
  • Conclusion: Phosphorylation of Tm1 at Ser283 contributes to its anti-tumor properties, and this effect results mainly from an increase in cell adhesion associated with a decrease in their migratory and invasive potentials. (scirp.org)
  • We used the shRNA approach to knock down the expression of TBL1XR1 in breast cancer cells and found that depletion of the TBL1XR1 protein in the cells reduced cell migration/invasion and suppressed tumor growth in mouse xenografts. (cancer.gov)
  • C: Tumor either Stage IA or Stage IB, but with tumor on the surface of one or both ovaries, or with capsule ruptured, or with ascites containing malignant cells or with positive peritoneal washings. (medscape.com)
  • A worldwide database analysis revealed that younger age, smaller tumor size, early stage, and granulosa cell tumor histologic type appear to be independent prognostic factors for improved survival in patients with malignant sex cord-stromal tumors who undergo lymph node dissection. (medscape.com)
  • Osseous solitary plasmacytoma of bone is a localized bone tumor of plasma cells, without evidence of plasma cell myeloma or marrow plasmacytosis. (medscape.com)
  • We research human embryonic stem (ES) cells, germline stem cells and somatic stem cells. (ncl.ac.uk)
  • The construction of this cell line is the first promising step in the regulation of GAL secretion from hTERT-immortalized BMSCs, and the potential application of this system may provide a stem cell-based research platform for pain. (hindawi.com)
  • Studies have increasingly focused on the potential therapeutic effects of stem cell transplantation for neurological diseases [ 10 ]. (hindawi.com)
  • Bone marrow stem cells, including the pluripotent hematopoietic stem cells (HSCs) and bone mesenchymal stem cells (BMSCs), are being considered as potential targets for cell and gene therapy-based approaches against a variety of different diseases. (hindawi.com)
  • Somatic cells can be inefficiently and stochastically reprogrammed into induced pluripotent stem (iPS) cells by exogenous expression of Oct4 (also called Pou5f1), Sox2, Klf4 and Myc (hereafter referred to as OSKM). (umn.edu)
  • We compared five strategies in CD34+ hematopoietic stem and progenitor cells, using either Cas9 nuclease or adenine base editors. (cdc.gov)
  • 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (who.int)
  • Sex cord-stromal tumors are groups of tumors composed of granulosa cells, theca cells, Sertoli cells, Leydig cells, and fibroblasts of stromal origin, singly or in various combinations. (medscape.com)
  • Simoneau, B., Houle, F. and Huot, J. (2012) Regulation of Endothelial Permeability and Transendothelial Migration of Cancer Cells by Tropomyosin-1 Phosphorylation. (scirp.org)
  • In this chapter, genetics related to the workplace will be considered in three categories of use: research, practice, and regulation or litigation (Table 9.1). (cdc.gov)
  • Several international health-related professional associations and religious bodies have issued statements calling for the careful monitoring and regulation of scientific developments in the field of cloning and human genetics. (who.int)
  • ROS-1 gene alterations, thought to lead to abnormal cells, have been identified in various cancers, including NSCLC. (medscape.com)
  • Accordingly, Rad51b-c.92delT variant reduced replication fork progression of patient-derived lymphoblastoid cell lines and pluripotent reprogramming efficiency of primary mouse embryonic fibroblasts. (nature.com)
  • Most striking among these are ESRP1 and ESRP2, which accelerate and enhance the efficiency of somatic cell reprogramming by promoting isoform expression changes associated with mesenchymal-to-epithelial transition. (nih.gov)
  • Our results provide a general resource for gene expression and splicing changes that take place during somatic cell reprogramming. (nih.gov)
  • Here we show that depleting Mbd3, a core member of the Mbd3/NuRD (nucleosome remodelling and deacetylation) repressor complex, together with OSKM transduction and reprogramming in naive pluripotency promoting conditions, result in deterministic and synchronized iPS cell reprogramming (near 100% efficiency within seven days from mouse and human cells). (umn.edu)
  • A 2017 study showed that as many as two-thirds of cancers occurred due to random gene changes during cell replication. (healthline.com)
  • All cancers carry somatic mutations. (lu.se)
  • Regions of kataegis differed between cancers but usually colocalized with somatic rearrangements. (lu.se)
  • ASD brains show an excess of somatic mutations in neural enhancer sequences compared with controls, suggesting that mosaic enhancer mutations may contribute to ASD risk. (nih.gov)
  • CRISPR gene editing holds great promise to modify DNA sequences in somatic cells to treat disease. (cdc.gov)
  • or ascites present containing malignant cells or with positive peritoneal washings. (medscape.com)
  • [ 1 ] Extraosseous solitary plasmacytoma of bone is a localized, soft-tissue plasma cell neoplasm that occurs in a location other than the bone and does not have evidence of plasma cell myeloma or marrow plasmacytosis. (medscape.com)
  • [ 6 ] In addition, plasma cell myeloma occurs more commonly in Americans of African descent than of European descent. (medscape.com)
  • The use of human telomerase reverse transcriptase-immortalized bone marrow mesenchymal stromal cells (hTERT-BMSCs) as vehicles to deliver antinociceptive galanin (GAL) molecules into pain-processing centers represents a novel cell therapy strategy for pain management. (hindawi.com)
  • Although human HSCs as vehicles to treat metachromatic leukodystrophy (MLD) has been used to treat patients with early onset MLD in a phase I/II trial, the HSCs give rise to all different blood cell lineages, such as the myeloid and lymphoid cell lineages [ 11 ]. (hindawi.com)
  • this limitation has been overcome via ectopic expression of human telomerase reverse transcriptase (hTERT), the catalytic component of telomerase, to produce large quantities of these cells as an attractive source for cellular transplantation [ 16 - 18 ]. (hindawi.com)
  • The Human Cell Atlas. (crossref.org)
  • Before the announcement in February 1997 of the cloning of a sheep by somatic cell nuclear transfer, existing legislation in a number of countries already precluded human cloning for reproductive purposes, sometimes implicitly. (who.int)
  • Methods: MDA MB231 breast cancer cells stably overexpressing wild type form of Tm1 or Tm1 mutants (S283A and S283E) were generated. (scirp.org)
  • The objectives of this study were (1) to explore traits that better capture weekly or monthly changes in somatic cell counts (SCC) than does the commonly used lactation-average SCC, (2) to estimate their heritabilities and relationships to clinical mastitis (CM), and (3) to determine if these traits are feasible for use in monthly testing schemes. (diva-portal.org)
  • However, obtaining primary neuronal cells from adult tissue is difficult and faces major ethical issues in clinical practice. (hindawi.com)
  • This expression may still vary in its clinical severity (this is expressivity) (See Zlotogora J. Genetics in Medicine 2003 ). (tripod.com)
  • Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
  • A karyotype illustrates the full set of chromosomes in a person's cells. (msdmanuals.com)
  • Except for certain cells (for example, sperm and egg cells and red blood cells), the cell nucleus contains 23 pairs of chromosomes. (msdmanuals.com)
  • Oocyte vitrification (cryopreservation) has the potential to rescue gametes from deceased animals, it would make oocyte banking for research possible, and superior female genetics could be cryopreserved. (wur.nl)
  • In mammals, functional analysis of the individual RAD51 paralogues in cell lines has shown similar but non-redundant contributions in DNA repair processes such as HR efficiency, RAD51 nuclear focus formation, sensitization to mitomycin C (MMC) and protection of perturbed replications forks [ 11 ]. (nature.com)
  • Background: Tropomyosin 1 alpha chain (Tm1) is an actin-binding protein that regulates the endothelial cell response to oxidative stress following its phosphorylation at Serine 283 (S283). (scirp.org)
  • The monofunctional OPRT protein was less stable than the ODC protein at 45 degrees C. Growth of transfected cells in 6-azauridine resulted in striking increases in activity and temperature stability for the monofunctional ODC protein. (unboundmedicine.com)
  • In a cell, antisense DNA serves as the template for producing messenger RNA (mRNA), which directs the synthesis of a protein. (genome.gov)
  • Data from two pivotal trials suggest that a single infusion of the CRISPR-based gene therapy exagamglogene autotemcel (exa-cel) can provide a 'functional cure' for patients with transfusion-dependent beta-thalassemia or severe sickle cell disease. (cdc.gov)
  • Journal of Muscle Research & Cell Motility, 22, 5-49. (scirp.org)
  • Journal of Muscle Research and Cell Motility, 36, 147-153. (scirp.org)
  • IDH1 gene mutations have been found in enchondroma cells in most people with Ollier disease, but the relationship between the mutations and the signs and symptoms of the disorder is not well understood. (medlineplus.gov)
  • Inducing fetal hemoglobin (HbF) in red blood cells can alleviate ß-thalassemia and sickle cell disease. (cdc.gov)
  • Ex vivo therapies have focused on blood disorders, including at least 6 trials aiming to cure sickle cell disease (SCD) or transfusion-dependent ß-thalassemia (TDT). (cdc.gov)
  • Plasma cell neoplasms show a spectrum of disease from asymptomatic to symptomatic forms. (medscape.com)
  • Instead of becoming normal mature cells, immature blood cells with somatic IDH1 gene mutations divide uncontrollably, leading to CN-AML. (medlineplus.gov)
  • This code tells each type of cell what to do and when to grow, divide, and die. (healthline.com)
  • Your cells divide multiple trillions of times during your life. (healthline.com)
  • When activated, oncogenes cause cells to grow and divide out of control. (healthline.com)
  • This allows cells to grow and divide out of control. (healthline.com)