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CIC (gene)
Capicua transcriptional repressor is a protein that in humans is encoded by the ''CIC'' gene. Capicua functions as a transcriptional repressor in a way that ensures its impact on the progression of cancer, and plays a significant role in the operation of the central nervous system through its interaction with ataxin 1. The name of the protein derives from the Catalan expression ''cap-i-cua'' which literally translates to "head-and-tail". Structure Capicua is a highly conserved protein, with a lot of similarity between human and Drosophila melanogaster. In the human body, capicua exists in two isoforms, the short (CIC-S) and the long (CIC-L) one, which differ in their N-terminal section. The two evolutionarily conserved domains of the protein are HMG-box (high-mobility group box) and the C1 domain: they work together to recognize specific octameric DNA sequences. Capicua also contains a nuclear localisation sequence that allows it to enter the nucleus of the cell. Clinical ... [...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 residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal-, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NUTM1
The nuclear protein in testis gene (i.e. ''NUTM1'' gene) encodes (i.e. directs the synthesis of) a 1,132-amino acid protein termed NUT that is expressed almost exclusively in the testes, ovaries, and ciliary ganglion (i.e. a parasympathetic ganglion of nerve cells located just behind the eye). NUT protein facilitates the acetylation of chromatin (i.e. DNA-protein bundles) by histone acetyltransferase EP300 in testicular spermatids (cells that mature into sperms). This acetylation is a form of chromatin remodeling which compacts spermatid chromatin, a critical step required for the normal conduct of spermatogenesis, i.e. the maturation of spermatids into sperm. Male mice that lacked the mouse ''Nutm1'' gene using a gene knockout method had abnormally small testes, lacked sperm in their cauda epididymis (i.e. tail of the epididymis which contains sperm in fertile male mice), and were completely sterile. These findings indicate that ''Nutm1'' gene is essential for the develo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXO4
Forkhead box protein O4 is a protein that in humans is encoded by the ''FOXO4'' gene. Structure and function FOXO4 is a member of the forkhead family transcription factors O subclass, which is characterized by a winged helix domain used for DNA binding. There are 4 members of the FOXO family, including FOXO1, FOXO3, and FOXO6. Their activity is modified by many post translational activities, such as phosphorylation, ubiquitination, and acetylation. Depending on this modified state, FOXO4 binding affinity for DNA is altered, allowing for FOXO4 to regulate many cellular pathways including oxidative stress signaling, longevity, insulin signaling, cell cycle progression, and apoptosis. Two of the main upstream regulators of FOXO4 activity are phosphoinositide 3- kinase (PI3K) and serine/threonine kinase AKT/PKB. Both PI3K and AKT modify FOXO4 and prevent it from translocating to the nucleus, effectively preventing the transcription of the downstream FOXO targets. Clinical signif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ATXN1
Ataxin-1 is a DNA-binding protein which in humans is encoded by the ''ATXN1'' gene. Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive loss of cerebellar neurons, particularly Purkinje neurons. Genetics ''ATXN1'' is conserved across multiple species, including humans, mice, and ''Drosophila.'' In humans, ''ATXN1'' is located on the short arm of chromosome 6. The gene contains 9 exons, two of which are protein-coding. There is a CAG repeat in the coding sequence which is longer in humans than other species (6-38 uninterrupted CAG repeats in healthy humans versus 2 in the mouse gene). This repeat is prone to errors in DNA replication and can vary widely in length between individuals. Structure Notable features of the Ataxin-1 protein structure include: * A polyglutamine tract of variable length, encoded by the CAG repeat in ''ATXN1.'' * A region which mediates protein-protein interactions, known a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOLR1
Folate receptor 1 (Folate receptor alpha, FOLR1) is a protein that in humans is encoded by the ''FOLR1'' gene. The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this family have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Functions This receptor is responsible for binding to folic acid and its derivatives, which becomes crucial during fetal development. By adding folate supplementation during pregnancy, neural tube defects in the fetus are prevented. Folate derivatives are necessary for important metabolic processes such as DNA, protein and lipid methylation. More importantly, folate plays a major role in DNA replication and cell division, which are common characteristics of rapid growth. Even though it is unclear how folate affects neural tube formation, scientists are certain that without appropriate folate levels, neural tub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CIC Gene Mutation In Drosophila Affecting C1 Domain
CIC may refer to: Organizations Canada * Cadet Instructors Cadre, a part of the Canadian Armed Forces * Canadian Infantry Corps, renamed in 1947 to Royal Canadian Infantry Corps * Canadian International Council * Canadian Islamic Congress * Chemical Institute of Canada * Immigration, Refugees and Citizenship Canada, formerly Citizenship and Immigration Canada * Columbia International College, Ontario * Credit Institute of Canada, a non-profit professional association * Crown Investments Corporation, Saskatchewan China * China Investment Corporation, a Chinese sovereign wealth fund * Chinese Industrial Cooperatives India * Central Information Commission * Cluster Innovation Centre *Coordination of Islamic Colleges Kenya * CIC Insurance Group Limited, an insurance provider * Commission for the Implementation of the Constitution (CIC) United Kingdom * Children in Crossfire, a charity located in Derry. * Community interest company, a type of social enterprise company * Constructio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Embryo
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sperm cell. The resulting fusion of these two cells produces a single-celled zygote that undergoes many cell divisions that produce cells known as blastomeres. The blastomeres are arranged as a solid ball that when reaching a certain size, called a morula, takes in fluid to create a cavity called a blastocoel. The structure is then termed a blastula, or a blastocyst in mammals. The mammalian blastocyst hatches before implantating into the endometrial lining of the womb. Once implanted the embryo will continue its development through the next stages of gastrulation, neurulation, and organogenesis. Gastrulation is the formation of the three germ layers that will form all of the different parts of the body. Neurulation forms the nervous ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Folate Deficiency
Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid despite being normal in the blood. Symptoms typically appear at about 5 to 24 months of age. Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures. One cause of cerebral folate deficiency is a mutation in a gene responsible for folate transport, specifically FOLR1. This is inherited in an autosomal recessive manner. Other causes appear to be Kearns–Sayre syndrome and autoantibodies to the folate receptor. For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a long period of time. Fewer than 20 people with the FOLR1 defect have been described in the medical literature. Signs and symptoms Childr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Appearance Of The Primary CIC-DUX4 Tumour In The Back And Lung Metastatic Lesions In 9 Yo Girl HE STAIN
Appearance may refer to: * Visual appearance, the way in which objects reflect and transmit light * Human physical appearance, what someone looks like * ''Appearances'' (film), a 1921 film directed by Donald Crisp * Appearance (philosophy), or phenomenon * Phantasiai, a term in ancient Greek philosophy variously translated as "appearances," "impressions," "presentations," and "representations." * Appearance (law), the coming into court of either of the parties to a suit, and/or the formal act by which a defendant submits himself to the jurisdiction of the court. Appear or Appears may refer to: * "Appears", a song released by Ayumi Hamasaki in 1999 Appearing may refer to: *Appearing (media consultants) - "Appearing", broadcast media promotion consultants, a PR agency headed by Scott Piering See also * * * Apparition (other), any instance of appearing, but usually referring to a supernatural phenomenon * Cap (sport) In sport, a cap is a player's appearance in a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FUBP1
Far upstream element-binding protein 1 is a protein that in humans is encoded by the ''FUBP1'' gene. This gene encodes a ssDNA binding protein that activates the far upstream element (FUSE) of c-myc and stimulates expression of c-myc in undifferentiated cells. Regulation of FUSE by FUBP occurs through single-strand binding of FUBP to the non-coding strand. This protein has been shown to function as an ATP-dependent DNA helicase. Interactions Far upstream element-binding protein 1 has been shown to interact with MAPK14 and SMN1. Clinical Significance FUBP1 gene deletion forms part of the 1p/19q codeletion mutation seen in oligodendroglioma, a form of primary brain tumour. CIC CIC may refer to: Organizations Canada * Cadet Instructors Cadre, a part of the Canadian Armed Forces * Canadian Infantry Corps, renamed in 1947 to Royal Canadian Infantry Corps * Canadian International Council * Canadian Islamic Congress * Chemi ... gene is also lost in the 1p/19q codeletion mutation. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligodendroglioma
Oligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell. They occur primarily in adults (9.4% of all primary brain and central nervous system tumors) but are also found in children (4% of all primary brain tumors). Signs and symptoms Oligodendroglioma arise mainly in the frontal lobe and in 50–80% of cases, the first symptom is the onset of seizure activity, without having any symptoms beforehand. Headaches combined with increased intracranial pressure are also a common symptom of oligodendroglioma. Depending on the location of the tumor, many different neurological deficits can be induced, including, but not limited to, visual loss, motor weakness and cognitive decline. A computed tomography (CT) or magnetic resonance imaging (MRI) scan is necessary to characterize tumor size, location, and hetero- or homogeneity. Final diagnosis relies on biopsy and histopathologic examination of the tumor mas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
