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SLX4
SLX4 (also known as BTBD12 and FANCP) is a protein involved in DNA repair, where it has important roles in the final steps of homologous recombination. Mutations in the gene are associated with the disease Fanconi anemia. The version of SLX4 present in humans and other mammals acts as a sort of scaffold upon which other proteins form several different multiprotein complexes. The SLX1-SLX4 complex acts as a Holliday junction resolvase. As such, the complex cleaves the links between two homologous chromosomes that form during homologous recombination. This allows the two linked chromosomes to resolve into two unconnected double-strand DNA molecules. The SLX4 interacting protein interacts with SLX4 in the DNA repair process, specifically in interstrand crosslink repair. SLX4 also associates with RAD1, RAD10 and SAW1 in the single-strand annealing pathway of homologous recombination. The DNA repair function of SLX4 is involved in sensitivity to proton beam radiation. Model or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLX4IP
SLX4 interacting protein is a protein that in humans is encoded by the SLX4IP gene. Function SLX4 interacting protein (SLX4IP) exists in a monomeric form, and interacts with the SLX4- XPF-ERCC1 multiprotein complex, which is responsible for the assembly of a Holliday junction resolvase in the role of DNA repair and maintenance. SLX4IP has been shown to directly interact with the N-terminal end of the SLX4 protein, which plays a role in the coordination of multiple different DNA structure-specific endonucleases. SLX4IP has also been shown to be involved in the control of alternative lengthening of telomeres, through its accumulation and interactions with the SLX4, BLM and XPF proteins. Location and expression The SLX4IP gene is located on the short arm (p) of chromosome 20 at position 12.2 (20p12.2). The human SLX4IP gene contains 14 exons, with the cDNA being 204,000 base pairs orientated on the plus strand. This codes for a protein of 408 amino acids with a molecular mas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fanconi Anemia
Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), and 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homologous recombination. Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone mar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Indirect Calorimetry
Indirect calorimetry calculates heat that living organisms produce by measuring either their production of carbon dioxide and nitrogen waste (frequently ammonia in aquatic organisms, or urea in terrestrial ones), or from their consumption of oxygen. Indirect calorimetry estimates the type and rate of substrate utilization and energy metabolism in vivo starting from gas exchange measurements (oxygen consumption and carbon dioxide production during rest and steady-state exercise). This technique provides unique information, is noninvasive, and can be advantageously combined with other experimental methods to investigate numerous aspects of nutrient assimilation, thermogenesis, the energetics of physical exercise, and the pathogenesis of metabolic diseases.Ferrannini "The theoretical bases of indirect calorimetry: a review."Metabolism. 1988 Mar;37(3):287-301. Scientific background Indirect calorimetry measures O2 consumption and CO2 production. On the assumption that all the oxyg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
International Knockout Mouse Consortium
The International Knockout Mouse Consortium (IKMC) is a scientific endeavour to produce a collection of mouse embryonic stem cell lines that together lack every gene in the genome, and then to distribute the cells to scientific researchers to create knockout mice to study. Many of the targeted alleles are designed so that they can generate both complete and conditional gene knockout mice. The IKMC was initiated on March 15, 2007 at a meeting in Brussels. By 2011, ''Nature'' reported that approximately 17,000 different genes have already been disabled by the consortium, "leaving only around 3,000 more to go". The consortium encompasses four major, high-throughput gene-targeted mutagenesis programs: the National Institutes of Health (NIH)-sponsored Knockout Mouse Program (KOMP) and state-funded Texas Institute for Genomic Medicine (TIGM) in the U.S., the North American Conditional Mouse Mutagenesis (NorCOMM) Program in Canada, and the European Conditional Mouse Mutagenesis (EUCOM ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Knockout Mouse
A knockout mouse, or knock-out mouse, is a genetically modified mouse (''Mus musculus'') in which researchers have inactivated, or " knocked out", an existing gene by replacing it or disrupting it with an artificial piece of DNA. They are important animal models for studying the role of genes which have been sequenced but whose functions have not been determined. By causing a specific gene to be inactive in the mouse, and observing any differences from normal behaviour or physiology, researchers can infer its probable function. Mice are currently the laboratory animal species most closely related to humans for which the knockout technique can easily be applied. They are widely used in knockout experiments, especially those investigating genetic questions that relate to human physiology. Gene knockout in rats is much harder and has only been possible since 2003. The first recorded knockout mouse was created by Mario R. Capecchi, Martin Evans, and Oliver Smithies in 1989, for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Citrobacter
''Citrobacter'' is a genus of Gram-negative coliform bacteria in the family Enterobacteriaceae. The species ''C. amalonaticus'', ''C. koseri'', and ''C. freundii'' can use citrate as a sole carbon source. ''Citrobacter'' species are differentiated by their ability to convert tryptophan to indole (''C. koseri'' is the only citrobacter to be commonly indole-positive), ferment lactose (''C. koseri'' is a lactose fermentor), and use malonate. ''Citrobacter'' shows the ability to accumulate uranium by building phosphate complexes. Clinical significance These bacteria can be found almost everywhere in soil, water, wastewater, etc. They can also be found in the human intestine. They are rarely the source of illnesses, except for infections of the GI Tract, urinary tract and infant meningitis and sepsis. ''Citrobacter freundii'' strains have inducible ''ampC'' genes encoding resistance to ampicillin Ampicillin is an antibiotic used to prevent and treat a number of bacteri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Salmonella
''Salmonella'' is a genus of rod-shaped (bacillus) Gram-negative bacteria of the family Enterobacteriaceae. The two species of ''Salmonella'' are '' Salmonella enterica'' and '' Salmonella bongori''. ''S. enterica'' is the type species and is further divided into six subspecies that include over 2,600 serotypes. ''Salmonella'' was named after Daniel Elmer Salmon (1850–1914), an American veterinary surgeon. ''Salmonella'' species are non-spore-forming, predominantly motile enterobacteria with cell diameters between about 0.7 and 1.5 μm, lengths from 2 to 5 μm, and peritrichous flagella (all around the cell body, allowing them to move). They are chemotrophs, obtaining their energy from oxidation and reduction reactions, using organic sources. They are also facultative anaerobes, capable of generating ATP with oxygen ("aerobically") when it is available, or using other electron acceptors or fermentation ("anaerobically") when oxygen is not available. ''Salmonell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micronucleus Test
A micronucleus test is a test used in toxicological screening for potential genotoxic compounds. The assay is now recognized as one of the most successful and reliable assays for genotoxic carcinogens, i.e., carcinogens that act by causing genetic damage and is recommended by the OECD guideline for the testing of chemicals. There are two major versions of this test, one ''in vivo'' and the other ''in vitro''. The ''in vivo'' test normally uses mouse bone marrow or mouse peripheral blood. When a bone marrow erythroblast develops into a polychromatic erythrocyte, the main nucleus is extruded; any micronucleus that has been formed may remain behind in the otherwise anucleated cytoplasm. Visualisation of micronuclei is facilitated in these cells because they lack a main nucleus. An increase in the frequency of micronucleated polychromatic erythrocytes in treated animals is an indication of induced chromosome damage. Micronuclei were first used to quantify chromosomal damage by H ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Blood Lymphocyte
Peripheral blood lymphocytes (PBL) are mature lymphocytes that circulate in the blood, rather than localising to organs (such as the spleen or lymph nodes). They comprise T cells, NK cells and B cells B cells, also known as B lymphocytes, are a type of white blood cell of the lymphocyte subtype. They function in the humoral immunity component of the adaptive immune system. B cells produce antibody molecules which may be either secreted o .... References Lymphocytes {{lymphatic-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haematology
Hematology ( always spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, bone marrow, platelets, blood vessels, spleen, and the mechanism of coagulation. Such diseases might include hemophilia, blood clots (thrombus), other bleeding disorders, and blood cancers such as leukemia, multiple myeloma, and lymphoma. The laboratory analysis of blood is frequently performed by a medical technologist or medical laboratory scientist. Specialization Physicians specialized in hematology are known as hematologists or haematologists. Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hematology laboratory viewing blood films and bone marrow slides under the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinical Chemistry
Clinical chemistry (also known as chemical pathology, clinical biochemistry or medical biochemistry) is the area of chemistry that is generally concerned with analysis of bodily fluids for diagnostic and therapeutic purposes. It is an applied form of biochemistry (not to be confused with medicinal chemistry, which involves basic research for drug development). The discipline originated in the late 19th century with the use of simple chemical reaction tests for various components of blood and urine. In the many decades since, other techniques have been applied as science and technology have advanced, including the use and measurement of enzyme activities, spectrophotometry, electrophoresis, and immunoassay. There are now many blood tests and clinical urine tests with extensive diagnostic capabilities. Most current laboratories are now highly automated to accommodate the high workload typical of a hospital laboratory. Tests performed are closely monitored and quality con ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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