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ADCY2
Adenylyl cyclase type 2 is an enzyme typically expressed in the brain of humans, that is encoded by the ''ADCY2'' gene. It belongs to the adenylyl cyclase class-3 or guanylyl cyclase family because it contains two guanylate cyclase domains. ADCY2 is one of ten different mammalian isoforms of adenylyl cyclases. ADCY2 can be found on chromosome 5 and the "MIR2113-POU3F2" region of chromosome 6, with a length of 1091 amino-acids. An essential cofactor for ADCY2 is magnesium; two ions bind per subunit. Structure Structurally, ADCY2 are transmembrane proteins with twelve transmembrane segments. The protein is organized with six transmembrane segments followed by the C1 cytoplasmic domain. Then another six membrane segments, and then a second cytoplasmic domain which is called C2. The important parts for function are the N-terminus and the C1 and C2 regions. The C1a and C2a subdomains are homologous and form an intramolecular 'dimer' that forms the active site. This structure display ...
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Adenylyl Cyclase
Adenylate cyclase (EC 4.6.1.1, also commonly known as adenyl cyclase and adenylyl cyclase, abbreviated AC) is an enzyme with systematic name ATP diphosphate-lyase (cyclizing; 3′,5′-cyclic-AMP-forming). It catalyzes the following reaction: :ATP = 3′,5′-cyclic AMP + diphosphate It has key regulatory roles in essentially all cells. It is the most polyphyletic known enzyme: six distinct classes have been described, all catalyzing the same reaction but representing unrelated gene families with no known sequence or structural homology. The best known class of adenylyl cyclases is class III or AC-III (Roman numerals are used for classes). AC-III occurs widely in eukaryotes and has important roles in many human tissues. All classes of adenylyl cyclase catalyse the conversion of adenosine triphosphate (ATP) to 3',5'-cyclic AMP (cAMP) and pyrophosphate.Magnesium ions are generally required and appear to be closely involved in the enzymatic mechanism. The cAMP produced by AC ...
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Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ...
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SCN7A
Sodium channel protein type 7 subunit alpha is a protein that in humans is encoded by the ''SCN7A'' gene on the chromosome specifically located at 2q21-23 chromosome site. This is one of 10 Sodium channel types, and is expressed in the heart, the uterus and in glial cells. Its sequence identity is 48, and it is the only sodium channel known to be completely un-blockable by tetrodotoxin (TTX). See also * Sodium channel Scn7a is the name of the gene that encodes to a membrane protein, in particular a Sodium Channel Nax (also known as NaG, Nav2.1, etc.) It belongs to the family of voltage-gated sodium channels, though is not activated by changes in the membrane's voltage unlike other members in the family, namely (Nav1.1 to Nav1.9); it activates by changes in the extracellular concentration of sodium 150 mM Fifteen or 15 may refer to: *15 (number), the natural number following 14 and preceding 16 *one of the years 15 BC, AD 15, 1915, 2015 Music *Fifteen (band), a punk rock ban ...
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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 mi ...
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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 controll ...
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Radiography
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeutic") and industrial radiography. Similar techniques are used in airport security (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and is projected toward the object. A certain amount of the X-rays or other radiation is absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning) an X-ray source and its associated detectors rotate around the su ...
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Dual-energy X-ray Absorptiometry
Dual-energy X-ray absorptiometry (DXA, or DEXA) is a means of measuring bone mineral density (BMD) using spectral imaging. Two X-ray beams, with different energy levels, are aimed at the patient's bones. When soft tissue absorption is subtracted out, the bone mineral density (BMD) can be determined from the absorption of each beam by bone. Dual-energy X-ray absorptiometry is the most widely used and most thoroughly studied bone density measurement technology. The DXA scan is typically used to diagnose and follow osteoporosis, as contrasted to the nuclear bone scan, which is sensitive to certain metabolic diseases of bones in which bones are attempting to heal from infections, fractures, or tumors. It is also sometimes used to assess body composition. Physics Soft tissue and bone have different attenuation coefficients to X-rays. A single X-ray beam passing through the body will be attenuated by both soft tissue and bone, and it is not possible to determine, from a single beam, ...
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Auditory Brainstem Response
The auditory brainstem response (ABR), also called brainstem evoked response audiometry (BERA), is an auditory evoked potential extracted from ongoing electrical activity in the brain and recorded via electrodes placed on the scalp. The measured recording is a series of six to seven vertex positive waves of which I through V are evaluated. These waves, labeled with Roman numerals in ''Jewett'' and ''Williston'' convention, occur in the first 10 milliseconds after onset of an auditory stimulus. The ABR is considered an ''exogenous response'' because it is dependent upon external factors. The auditory structures that generate the auditory brainstem response are believed to be as follows: *Wave I through III – generated by the auditory branch of cranial nerve VIII and lower *Wave IV and V – generated by the upper brainstem *More in depth location – wave I and II originates from the distal and proximal auditory nerve fibers, wave III from the cochlear nucleus, IV showing acti ...
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Glucose Tolerance Test
The glucose tolerance test (GTT, not to be confused with GGT test) is a medical test in which glucose is given and blood samples taken afterward to determine how quickly it is cleared from the blood. The test is usually used to test for diabetes, insulin resistance, impaired beta cell function, and sometimes reactive hypoglycemia and acromegaly, or rarer disorders of carbohydrate metabolism. In the most commonly performed version of the test, an ''oral glucose tolerance test'' (OGTT), a standard dose of glucose is ingested by mouth and blood levels are checked two hours later. Many variations of the GTT have been devised over the years for various purposes, with different standard doses of glucose, different routes of administration, different intervals and durations of sampling, and various substances measured in addition to blood glucose. History The glucose tolerance test was first described in 1923 by Jerome W. Conn. The test was based on the previous work in 1913 by A. T. ...
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Dysmorphology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in Dysmorphic feature, dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult (medical), insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, Mercury (element), mercury, Alcohol (drug), alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek language, Greek (word stem ), meaning "sign sent by the gods, portent, marv ...
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Phenotypic Screen
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddi ...
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Wellcome Trust Sanger Institute
The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust. It is located on the Wellcome Genome Campus by the village of Hinxton, outside Cambridge. It shares this location with the European Bioinformatics Institute. It was established in 1992 and named after double Nobel Laureate Frederick Sanger. It was conceived as a large scale DNA sequencing centre to participate in the Human Genome Project, and went on to make the largest single contribution to the gold standard sequence of the human genome. From its inception the institute established and has maintained a policy of data sharing, and does much of its research in collaboration. Since 2000, the institute expanded its mission to understand "the role of genetics in health and disease". The institute now employs around 900 people and engages in five main areas of research ...
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