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Systemic Primary Carnitine Deficiency
Systemic primary carnitine deficiency (SPCD)Systemic primary carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving across the . Carnitine is an important amino acid for fatty acid metabolism. When carnitine ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carnitine
Carnitine is a quaternary ammonium compound involved in metabolism in most mammals, plants, and some bacteria. In support of energy metabolism, carnitine transports long-chain fatty acids from the cytosol into mitochondria to be oxidized for free energy production, and also participates in removing products of metabolism from cells. Given its key metabolic roles, carnitine is concentrated in tissues like skeletal and cardiac muscle that metabolize fatty acids as an energy source. Generally individuals, including strict vegetarians, synthesize enough L-carnitine in vivo. Carnitine exists as one of two stereoisomers: the two enantiomers -carnitine (''S''-(+)-) and -carnitine (''R''-(−)-). Both are biologically active, but only -carnitine naturally occurs in animals, and -carnitine is toxic as it inhibits the activity of the -form. At room temperature, pure carnitine is a whiteish powder, and a water-soluble zwitterion with relatively low toxicity. Derived from amino acids, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Johns Hopkins University
The Johns Hopkins University (often abbreviated as Johns Hopkins, Hopkins, or JHU) is a private university, private research university in Baltimore, Maryland, United States. Founded in 1876 based on the European research institution model, Johns Hopkins is considered to be the first research university in the U.S. The university was named for its first benefactor, the American entrepreneur and Quakers, Quaker philanthropist Johns Hopkins. Hopkins's $7 million bequest (equivalent to $ in ) to establish the university was the largest Philanthropy, philanthropic gift in U.S. history up to that time. Daniel Coit Gilman, who was inaugurated as :Presidents of Johns Hopkins University, Johns Hopkins's first president on February 22, 1876, led the university to revolutionize higher education in the U.S. by integrating teaching and research. In 1900, Johns Hopkins became a founding member of the Association of American Universities. The university has led all Higher education in the U ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Japan
Japan is an island country in East Asia. Located in the Pacific Ocean off the northeast coast of the Asia, Asian mainland, it is bordered on the west by the Sea of Japan and extends from the Sea of Okhotsk in the north to the East China Sea in the south. The Japanese archipelago consists of four major islands—Hokkaido, Honshu, Shikoku, and Kyushu—and List of islands of Japan, thousands of smaller islands, covering . Japan has a population of over 123 million as of 2025, making it the List of countries and dependencies by population, eleventh-most populous country. The capital of Japan and List of cities in Japan, its largest city is Tokyo; the Greater Tokyo Area is the List of largest cities, largest metropolitan area in the world, with more than 37 million inhabitants as of 2024. Japan is divided into 47 Prefectures of Japan, administrative prefectures and List of regions of Japan, eight traditional regions. About three-quarters of Geography of Japan, the countr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Taiwan
Taiwan, officially the Republic of China (ROC), is a country in East Asia. The main geography of Taiwan, island of Taiwan, also known as ''Formosa'', lies between the East China Sea, East and South China Seas in the northwestern Pacific Ocean, with the China, People's Republic of China (PRC) to the northwest, Japan to the northeast, and the Philippines to the south. It has an area of , with mountain ranges dominating the eastern two-thirds and plains in the western third, where its Urbanization by country, highly urbanized population is concentrated. The combined Free area of the Republic of China, territories under ROC control consist of list of islands of Taiwan, 168 islands in total covering . The Taipei–Keelung metropolitan area, largest metropolitan area is formed by Taipei (the capital), New Taipei City, and Keelung. With around 23.9 million inhabitants, Taiwan is among the List of countries and dependencies by population density, most densely populated countries. Tai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Faroe Islands
The Faroe Islands ( ) (alt. the Faroes) are an archipelago in the North Atlantic Ocean and an autonomous territory of the Danish Realm, Kingdom of Denmark. Located between Iceland, Norway, and the United Kingdom, the islands have a population of 54,609 and a land area of 1,393 km². The official language is Faroese language, Faroese, which is partially mutually intelligible with Icelandic language, Icelandic. The terrain is rugged, dominated by fjords and cliffs with sparse vegetation and few trees. As a result of its proximity to the Arctic Circle, the islands experience perpetual Twilight, civil twilight during summer nights and very short winter days; nevertheless, they experience a Oceanic climate#Subpolar variety (Cfc, Cwc), subpolar oceanic climate and mild temperatures year-round due to the Gulf Stream. The capital, Tórshavn, receives the fewest recorded hours of sunshine of any city in the world at only 840 per year. Færeyinga saga, Færeyinga Saga and the writin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroblasts
A fibroblast is a type of biological cell typically with a spindle shape that synthesizes the extracellular matrix and collagen, produces the structural framework ( stroma) for animal tissues, and plays a critical role in wound healing. Fibroblasts are the most common cells of connective tissue in animals. Structure Fibroblasts have a branched cytoplasm surrounding an elliptical, speckled nucleus having two or more nucleoli. Active fibroblasts can be recognized by their abundant rough endoplasmic reticulum (RER). Inactive fibroblasts, called ' fibrocytes', are smaller, spindle-shaped, and have less RER. Although disjointed and scattered when covering large spaces, fibroblasts often locally align in parallel clusters when crowded together. Unlike the epithelial cells lining the body structures, fibroblasts do not form flat monolayers and are not restricted by a polarizing attachment to a basal lamina on one side, although they may contribute to basal lamina components in s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benign
Malignancy () is the tendency of a medical condition to become progressively worse; the term is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties, but may still be harmful to health. The term benign in more general medical use characterizes a condition or growth that is not cancerous, i.e. does not spread to other parts of the body or invade nearby tissue. Sometimes the term is used to suggest that a condition is not dangerous or serious. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis. Malignant tumors are also characterized by genome instability, so that cancers, as assessed by whole genome sequencing, frequently have between 10,000 and 100,000 mutations in their ent ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heterozygote
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketone Bodies
Ketone bodies are water-soluble molecules or compounds that contain the ketone groups produced from fatty acids by the liver ( ketogenesis). Ketone bodies are readily transported into tissues outside the liver, where they are converted into acetyl-CoA (acetyl-Coenzyme A)which then enters the citric acid cycle (Krebs cycle) and is oxidized for energy.Silva, B., Mantha, O. L., Schor, J., Pascual, A., Plaçais, P. Y., Pavlowsky, A., & Preat, T. (2022). Glia fuel neurons with locally synthesized ketone bodies to sustain memory under starvation. Nature Metabolism, 4(2), 213–224. https://doi.org/10.1038/s42255-022-00528-6 These liver-derived ketone groups include acetoacetic acid (acetoacetate), beta-hydroxybutyrate, and acetone, a spontaneous breakdown product of acetoacetate (see graphic). Ketone bodies are produced by the liver during periods of caloric restriction of various scenarios: low food intake (fasting), carbohydrate restrictive diets, starvation, prolonged intense e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondria
A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used throughout the cell as a source of chemical energy. They were discovered by Albert von Kölliker in 1857 in the voluntary muscles of insects. The term ''mitochondrion'', meaning a thread-like granule, was coined by Carl Benda in 1898. The mitochondrion is popularly nicknamed the "powerhouse of the cell", a phrase popularized by Philip Siekevitz in a 1957 ''Scientific American'' article of the same name. Some cells in some multicellular organisms lack mitochondria (for example, mature mammalian red blood cells). The multicellular animal '' Henneguya salminicola'' is known to have retained mitochondrion-related organelles despite a complete loss of their mitochondrial genome. A large number of unicellular organisms, such as microspo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisome Proliferator-activated Receptor Alpha
Peroxisome proliferator-activated receptor alpha (PPAR-α), also known as NR1C1 (nuclear receptor subfamily 1, group C, member 1), is a nuclear receptor protein functioning as a transcription factor that in humans is encoded by the ''PPARA'' gene. Together with peroxisome proliferator-activated receptor delta and peroxisome proliferator-activated receptor gamma, PPAR-alpha is part of the subfamily of peroxisome proliferator-activated receptors. It was the first member of the PPAR family to be cloned in 1990 by Stephen Green and has been identified as the nuclear receptor for a diverse class of rodent Liver, hepatocarcinogens that causes proliferation of peroxisomes. Expression PPAR-α is primarily activated through ligand binding. Endogenous ligands include fatty acids such as arachidonic acid as well as other polyunsaturated fatty acids and various fatty acid-derived compounds such as certain members of the 15-hydroxyicosatetraenoic acid, 15-hydroxyeicosatetraenoic acid family ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
