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Stomatocytosis
Hereditary stomatocytosis describes a number of inherited, mostly autosomal dominant human conditions which affect the red blood cell and create the appearance of a slit-like area of central pallor (stomatocyte) among erythrocytes on peripheral blood smear. The erythrocytes' cell membranes may abnormally 'leak' sodium and/or potassium ions, causing abnormalities in cell volume. Hereditary stomatocytosis should be distinguished from acquired causes of stomatocytosis, including dilantin toxicity and alcoholism, as well as artifact from the process of preparing peripheral blood smears. Signs and symptoms Stomatocytosis may present with signs and symptoms consistent with hemolytic anemia as a result of extravascular hemolysis and often intravascular hemolysis. These include fatigue and pallor, as well as signs of jaundice, splenomegaly and gallstone formation from prolonged hemolysis. Certain cases of hereditary stomatocytosis associated with genetic syndromes have additional symp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RHAG
Rh-associated glycoprotein (RHAG) is an ammonia transporter protein that in humans is encoded by the ''RHAG'' gene. RHAG has also recently been designated CD241 (cluster of differentiation 241). Mutations in the RHAG gene can cause stomatocytosis. Function The Rh blood group antigens (MIM 111700) are associated with human erythrocyte membrane proteins of approximately 30 kD, the so-called Rh30 polypeptides. Heterogeneously glycosylated membrane proteins of 50 and 45 kD, the Rh50 glycoproteins, are coprecipitated with the Rh30 polypeptides on immunoprecipitation with anti-Rh-specific mono- and polyclonal antibodies. The Rh antigens appear to exist as a multisubunit complex of CD47 (MIM 601028), LW (MIM 111250), glycophorin B (MIM 111740), and play a critical role in the Rh50 glycoprotein upplied by OMIM Interactions RHAG has been shown to interact with ANK1. See also * Rh deficiency syndrome References Further reading * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PIEZO1
Piezo-type mechanosensitive ion channel component 1 is a protein that in humans is encoded by the ''PIEZO1'' gene. PIEZO1 is a large mechanosensitive ion channel protein that forms a homotrimeric complex with a distinctive three-bladed, propeller-shaped architecture. Each subunit of PIEZO1 contains between 30 and 40 transmembrane domains. The protein consists of a central pore module and peripheral mechanotransduction modules. The pore module is composed of the last two transmembrane helices, an extracellular cap domain, and an intracellular C-terminal domain. PIEZO1 functions as a non-selective cation channel capable of conducting both monovalent and divalent cations, including Na+, K+, and Ca2+. The mechanosensitivity of PIEZO1 is a defining characteristic. It can be directly activated by membrane tension, with the peripheral blade and beam structures likely acting as mechanotransduction modules. Notably, PIEZO1 requires lower tension for activation compared to bacterial mecha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Red Blood Cell
Red blood cells (RBCs), referred to as erythrocytes (, with -''cyte'' translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cell and the vertebrate's principal means of delivering oxygen () to the body tissue (biology), tissues—via blood flow through the circulatory system. Erythrocytes take up oxygen in the lungs, or in fish the gills, and release it into tissues while squeezing through the body's capillary, capillaries. The cytoplasm of a red blood cell is rich in hemoglobin (Hb), an iron-containing biomolecule that can bind oxygen and is responsible for the red color of the cells and the blood. Each human red blood cell contains approximately 270 million hemoglobin molecules. The cell membrane is composed of proteins and lipids, and this structure provides properties essential for physiological Cell (biology), cell function such as erythrocyte deformabil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Band 3
Band 3 anion transport protein, also known as anion exchanger 1 (AE1) or band 3 or solute carrier family 4 member 1 (SLC4A1), is a protein that is encoded by the gene in humans. Band 3 anion transport protein is a phylogenetically-preserved transport protein responsible for mediating the exchange of chloride (Cl−) with bicarbonate (HCO3−) across plasma membranes. Functionally similar members of the AE clade are AE2 and AE3. Function Band 3 is present in the basolateral face of the α-intercalated cells of the collecting ducts of the nephron, which are the main acid-secreting cells of the kidney. They generate hydrogen ions and bicarbonate ions from carbon dioxide and water – a reaction catalysed by carbonic anhydrase. The hydrogen ions are pumped into the collecting duct tubule by vacuolar H+ ATPase, the apical proton pump, which thus excretes acid into the urine. kAE1, the kidney isoform of AE1, exchanges bicarbonate for chloride on the basolateral surfac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malaria
Malaria is a Mosquito-borne disease, mosquito-borne infectious disease that affects vertebrates and ''Anopheles'' mosquitoes. Human malaria causes Signs and symptoms, symptoms that typically include fever, Fatigue (medical), fatigue, vomiting, and headaches. In severe cases, it can cause jaundice, Epileptic seizure, seizures, coma, or death. Symptoms usually begin 10 to 15 days after being bitten by an infected ''Anopheles'' mosquito. If not properly treated, people may have recurrences of the disease months later. In those who have recently survived an infection, reinfection usually causes milder symptoms. This partial Immunity (medical), resistance disappears over months to years if the person has no continuing exposure to malaria. The mosquitoes themselves are harmed by malaria, causing reduced lifespans in those infected by it. Malaria is caused by protozoa, single-celled microorganisms of the genus ''Plasmodium''. It is spread exclusively through bites of infected female ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Spherocytosis
Hereditary spherocytosis (HS) is a congenital hemolytic disorder wherein a genetic genetic mutation, mutation coding for a structural membrane protein phenotype causes the red blood cells to be sphere-shaped (spherocytosis), rather than the normal biconcave disk shape. This abnormal shape interferes with the cells' ability to flex during blood circulation, and also makes them more prone to hemolysis, rupture under osmotic stress, mechanical stress, or both. Cells with the dysfunctional proteins are degraded in the spleen, which leads to a shortage of erythrocytes and results in hemolytic anemia. HS was first described in 1871, and is the most common cause of inherited hemolysis in populations of northern European descent, with an incidence of 1 in 5000 births. The clinical severity of HS varies from mild (symptom-free carrier), to moderate (anemic, jaundiced, and with splenomegaly), to severe (hemolytic crisis, in-utero hydrops fetalis), because HS is caused by genetic mutations i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Folic Acid
Folate, also known as vitamin B9 and folacin, is one of the B vitamins. Manufactured folic acid, which is converted into folate by the body, is used as a dietary supplement and in food fortification as it is more stable during processing and storage. Folate is required for the body to make DNA and RNA and metabolise amino acids necessary for cell division and maturation of blood cells. As the human body cannot make folate, it is required in the diet, making it an Nutrient#Essential nutrients, essential nutrient. It occurs naturally in many foods. The recommended adult daily intake of folate in the U.S. is 400 micrograms from foods or dietary supplements. Folate in the form of folic acid is used to treat anemia caused by folic acid deficiency, folate deficiency. Folic acid is also used as a supplement by women during pregnancy to reduce the risk of neural tube defects (NTDs) in the baby. NTDs include anencephaly and spina bifida, among other defects. Low levels in early pregna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Miniature Schnauzer
The Miniature Schnauzer is a dog breed, breed of small dog of the Schnauzer type that originated in Germany in the mid-to-late 19th century. Miniature Schnauzers may have been developed from the smallest specimens of the Standard Schnauzer, or crosses between the standard and one or more smaller breeds such as the Affenpinscher, Miniature Pinscher, and Poodles, as farmers bred a small dog that was an efficient Ratter, ratting dog. They are described as "spunky" but aloof dogs, with good guarding tendencies without some guard dogs' predisposition to bite. Miniature Schnauzers are recognized in four colors internationally: solid black, black and silver, salt and pepper, and white. It is the most popular Schnauzer breed, and remains one of the most popular worldwide, primarily for its temperament and relatively small size. As of 2022 it is the 17th most popular breed in the U.S. History The earliest records surrounding the development of the Standard Schnauzer in Germany come from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alaskan Malamute
The Alaskan Malamute () is a large breed of dog that was originally bred for its strength and endurance, to haul heavy freight as a sled dog. It is similar to other arctic breeds such as the husky, the spitz, the Greenland Dog, Canadian Eskimo Dog, the Siberian Husky, and the Samoyed. Lineage Although it is believed that the first dogs arrived in the Americas 12,000 years ago, people and their dogs did not settle in the Arctic until the Paleo-Eskimo people 4,500 years ago, followed by the Thule people 1,000 years ago, with both originating from Siberia. Malamutes were thought to be bred by the Malimiut Inupiaq people of Alaska's Norton Sound region. The Malamute has been identified as a basal breed that predates the emergence of the modern breeds in the 19th century. A study in 2013 showed that the Alaskan Malamute has a similar east Asian origin to, but is not clearly related to, the Greenland Dog and the Canadian Eskimo Dog, but contains a possible admixture of the S ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Membranes
The cell membrane (also known as the plasma membrane or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates and protects the interior of a cell from the outside environment (the extracellular space). The cell membrane consists of a lipid bilayer, made up of two layers of phospholipids with cholesterols (a lipid component) interspersed between them, maintaining appropriate membrane fluidity at various temperatures. The membrane also contains membrane proteins, including integral proteins that span the membrane and serve as membrane transporters, and peripheral proteins that loosely attach to the outer (peripheral) side of the cell membrane, acting as enzymes to facilitate interaction with the cell's environment. Glycolipids embedded in the outer lipid layer serve a similar purpose. The cell membrane controls the movement of substances in and out of a cell, being selectively permeable to ions and organic molecule ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
