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SLC52A3
Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a protein that in humans is encoded by the ''SLC52A3'' gene. Function This locus likely encodes a transmembrane protein that may function as a riboflavin transporter. Clinical significance Mutations at this locus have been associated with Fazio–Londe disease and Brown-Vialetto-Van Laere syndrome. Model organisms Model organisms have been used in the study of C20orf54 function. The orthologous gene in mice is called ''2310046K01Rik''. A conditional knockout mouse line, called ''2310046K01Riktm2a(KOMP)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Riboflavin
Riboflavin, also known as vitamin B2, is a vitamin found in food and sold as a dietary supplement. It is essential to the formation of two major coenzymes, flavin mononucleotide and flavin adenine dinucleotide. These coenzymes are involved in energy metabolism, cellular respiration, and antibody production, as well as normal growth and development. The coenzymes are also required for the metabolism of niacin, vitamin B6, and folate. Riboflavin is prescribed to treat corneal thinning, and taken orally, may reduce the incidence of migraine headaches in adults. Riboflavin deficiency is rare and is usually accompanied by deficiencies of other vitamins and nutrients. It may be prevented or treated by oral supplements or by injections. As a water-soluble vitamin, any riboflavin consumed in excess of nutritional requirements is not stored; it is either not absorbed or is absorbed and quickly excreted in urine, causing the urine to have a bright yellow tint. Natural sources of rib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fazio–Londe Disease
Fazio–Londe disease (FLD), also called progressive bulbar palsy of childhood, is a very rare inherited motor neuron disease of children and young adults and is characterized by progressive paralysis of muscles innervated by cranial nerves. FLD, along with Brown–Vialetto–Van Laere syndrome (BVVL), are the two forms of infantile progressive bulbar palsy, a type of progressive bulbar palsy in children. Signs and symptoms FLD produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia. Neuromuscular transmission may be abnormal in these muscles because of rapid denervation and immature reinnervation. Paralysis occurs secondary to degeneration of the motor neurons of the brain stem. It causes progressive bulbar paralysis due to involvement of motor neurons of the cranial nerve nuclei. The most frequent symptoms at onset of progressive bulbar paralysis of childhood has been a unilateral facial paralysis. It is follow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Open Reading Frame
In molecular biology, open reading frames (ORFs) are defined as spans of DNA sequence between the start and stop codons. Usually, this is considered within a studied region of a prokaryotic DNA sequence, where only one of the six possible reading frames will be "open" (the "reading", however, refers to the RNA produced by transcription of the DNA and its subsequent interaction with the ribosome in translation). Such an ORF may contain a start codon (usually AUG in terms of RNA) and by definition cannot extend beyond a stop codon (usually UAA, UAG or UGA in RNA). That start codon (not necessarily the first) indicates where translation may start. The transcription termination site is located after the ORF, beyond the translation stop codon. If transcription were to cease before the stop codon, an incomplete protein would be made during translation. In eukaryotic genes with multiple exons, introns are removed and exons are then joined together after transcription to yield the final ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Plasma
Blood plasma is a light amber-colored liquid component of blood in which blood cells are absent, but contains proteins and other constituents of whole blood in suspension. It makes up about 55% of the body's total blood volume. It is the intravascular part of extracellular fluid (all body fluid outside cells). It is mostly water (up to 95% by volume), and contains important dissolved proteins (6–8%; e.g., serum albumins, globulins, and fibrinogen), glucose, clotting factors, electrolytes (, , , , , etc.), hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and oxygen. It plays a vital role in an intravascular osmotic effect that keeps electrolyte concentration balanced and protects the body from infection and other blood-related disorders. Blood plasma is separated from the blood by spinning a vessel of fresh blood containing an anticoagulant in a centrifuge until the blood cells fall to the bottom of the tube. The blood plasma is t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutant
In biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. It is a characteristic that would not be observed naturally in a specimen. The term mutant is also applied to a virus with an alteration in its nucleotide sequence whose genome is in the nuclear genome. The natural occurrence of genetic mutations is integral to the process of evolution. The study of mutants is an integral part of biology; by understanding the effect that a mutation in a gene has, it is possible to establish the normal function of that gene. Mutants arise by mutation Mutants arise by mutations occurring in pre-existing genomes as a result of errors of DNA replication or errors of DNA repair. Errors of replication often involve translesion synthesis by a DNA polymerase when it encounters and bypasses a damaged base in the temp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...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 (EUCOMM) ... [...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 whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthologous
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a speciation event (orthologs), or a duplication event (paralogs), or else a horizontal (or lateral) gene transfer event (xenologs). Homology among DNA, RNA, or proteins is typically inferred from their nucleotide or amino acid sequence similarity. Significant similarity is strong evidence that two sequences are related by evolutionary changes from a common ancestral sequence. Alignments of multiple sequences are used to indicate which regions of each sequence are homologous. Identity, similarity, and conservation The term "percent homology" is often used to mean "sequence similarity”, that is the percentage of identical residues (''percent identity''), or the percentage of residues conserved with similar physicochemical properties ('' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Model Organism
A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workings of other organisms. Model organisms are widely used to research human disease when human experimentation would be unfeasible or unethical. This strategy is made possible by the common descent of all living organisms, and the conservation of metabolic and developmental pathways and genetic material over the course of evolution. Studying model organisms can be informative, but care must be taken when generalizing from one organism to another. In researching human disease, model organisms allow for better understanding the disease process without the added risk of harming an actual human. The species chosen will usually meet a determined taxonomic equivalency to humans, so as to react to disease or its treatment in a way that resembles ... [...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 and first-generation cephalosporins. In addition, isolates of ''Citrobacter'' may be r ... [...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. ''Salmonella'' spe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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