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Carney–Stratakis Syndrome
Carney triad (CT) is characterized by the coexistence of three types of neoplasms, mainly in young women,OMIM - Online Mendelian Inheritance in Man. Carney Triad (OMIM 604287/ref> including gastric gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma.Carney JA. "The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review." ''Medicine'' (Baltimore). 1983;62(3): 159-169. The underlying genetic defect remains elusive. CT is distinct from Carney complex and Carney–Stratakis syndrome. Background Carney triad (CT), named for J. Aidan Carney, is considered to be a specific type of multiple endocrine neoplasia (MEN). The three classically associated tumors are a subset of gastric epithelioid leiomyosarcoma (it is now known that this subset is actually gastrointestinal stromal tumor arising from the interstitial cells of Cajal), pulmonary chondroma, and extra-adrenal paragang ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Molecular Biology
Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactions. Though cells and other microscopic structures had been observed in living organisms as early as the 18th century, a detailed understanding of the mechanisms and interactions governing their behavior did not emerge until the 20th century, when technologies used in physics and chemistry had advanced sufficiently to permit their application in the biological sciences. The term 'molecular biology' was first used in 1945 by the English physicist William Astbury, who described it as an approach focused on discerning the underpinnings of biological phenomena—i.e. uncovering the physical and chemical structures and properties of biological molecules, as well as their interactions with other molecules and how these interactions explain observ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Succinate Dehydrogenase Complex Subunit C
Succinate dehydrogenase complex subunit C, also known as succinate dehydrogenase cytochrome b560 subunit, mitochondrial, is a protein that in humans is encoded by the ''SDHC'' gene. This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with pheochromocytomas and paragangliomas. Alternatively spliced transcript variants have been described. Structure The gene that codes for the SDHC protein is nuclear, even though the protein is located in the inner membrane of the mitochondria. The location of the gene in hu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SDHD
Succinate dehydrogenase biquinonecytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the ''SDHD'' gene. Names previously used for SDHD were PGL and PGL1. Succinate dehydrogenase is an important enzyme in both the citric acid cycle and the electron transport chain. Hereditary PGL-PCC syndrome is caused by a parental imprint of the SDHD gene. Screening can begin by 6 years of age. Structure The SDHD gene is located on chromosome 11 at locus 11q23 and it spans 8,978 base pairs. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. The SDHD gene produces a 17 kDa protein composed of 159 amino acids. The SDHD protein is one of the two integral transmembrane subunits anchoring the four-subunit succinate dehydrogenase (Complex II) protein complex to the matrix side of the mitochondrial inner membrane. The other transmembrane subunit is SDHC. The SDHC/ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Succinate Dehydrogenase
Succinate dehydrogenase (SDH) or succinate-coenzyme Q reductase (SQR) or respiratory complex II is an enzyme complex, found in many bacterial cells and in the inner mitochondrial membrane of eukaryotes. It is the only enzyme that participates in both the citric acid cycle and oxidative phosphorylation. Histochemical analysis showing high succinate dehydrogenase in muscle demonstrates high mitochondrial content and high oxidative potential. In step 6 of the citric acid cycle, SQR catalyzes the oxidation of succinate to fumarate with the reduction of ubiquinone to ubiquinol. This occurs in the inner mitochondrial membrane by coupling the two reactions together. Structure Subunits Mitochondrial and many bacterial SQRs are composed of four structurally different subunits: two hydrophilic and two hydrophobic. The first two subunits, a flavoprotein (SDHA) and an iron-sulfur protein (SDHB), form a hydrophilic head where enzymatic activity of the complex takes place. SD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumor Suppressor Gene
A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell (biology), cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results in a loss or reduction in its function. In combination with other genetic mutations, this could allow the cell to grow abnormally. The Loss-of-function mutation, loss of function for these genes may be even more significant in the development of human cancers, compared to the activation of oncogenes. TSGs can be grouped into the following categories: caretaker genes, gatekeeper genes, and more recently landscaper genes. Caretaker genes ensure stability of the genome via DNA repair and subsequently when mutated allow mutations to accumulate. Meanwhile, gatekeeper genes directly regulate cell growth by either inhibiting cell cycle progression or inducing apoptosis. Lastly, landscaper genes regulate growth by contributing to the surrounding 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] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dyad
Dyad or dyade may refer to: Arts and entertainment * Dyad (music), a set of two notes or pitches * ''Dyad'' (novel), by Michael Brodsky, 1989 * ''Dyad'' (video game), 2012 * ''Dyad 1909'' and ''Dyad 1929'', ballets by Wayne McGregor *Dyad Institute, a fictional biotech corporation in the Canadian TV series Orphan Black Other uses * Dyad (biology), a pair of sister chromatids * Dyad (philosophy), used by the Pythagoreans for the number two, representing "twoness" or "otherness" * Dyad (sociology), a group of two people *Grizzled Young Veterans, also known as The Dyad, a British professional wrestling tag team See also * Dyadic (other) * Diad, in cell biology * Dryad (other) * Dyad pedagogy, a goal-directed teaching method * Dyad symmetry, in genetics * Triad (other) Triad or triade may refer to: * a group of three Humanities * Trichotomy (philosophy), often called triads * Triad (sociology), a group of three people as a unit of study * Triad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nevus
Nevus () is a nonspecific medical terminology, medical term for a visible, circumscribed, chronic (medicine), chronic lesion of the skin or mucosa. The term originates from , which is Latin for "birthmark"; however, a nevus can be either congenital (present at birth) or acquired. Common terms (''mole'', ''birthmark'', ''beauty mark'', etc.) are used to describe nevi, but these terms do not distinguish specific types of nevi from one another. Classification The term ''nevus'' is applied to a number of conditions caused by Neoplasm, neoplasias and hyperplasias of melanocytes, as well as a number of pigmentation disorders, both hypermelanotic (containing increased melanin, the pigment responsible for skin color) and hypomelanotic (containing decreased melanin). Suspicious skin moles which are multi-colored or pink may be a finding in skin cancer. Increased melanin Usually acquired * Melanocytic nevus ** Melanocytic nevi can be categorized based on the location of melanocytic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Imatinib
Imatinib, sold under the brand names Gleevec and Glivec (both marketed worldwide by Novartis) among others, is an oral targeted therapy medication used to treat cancer. Imatinib is a small molecule inhibitor targeting multiple tyrosine kinases such as CSF1R, ABL, c-KIT, FLT3, and PDGFR-β. Specifically, it is used for chronic myelogenous leukemia (CML) and acute lymphocytic leukemia (ALL) that are Philadelphia chromosome–positive (Ph+), certain types of gastrointestinal stromal tumors (GIST), hypereosinophilic syndrome (HES), chronic eosinophilic leukemia (CEL), systemic mastocytosis, and myelodysplastic syndrome. Common side effects include vomiting, diarrhea, muscle pain, headache, and rash. Severe side effects may include Water retention (medicine), fluid retention, gastrointestinal bleeding, bone marrow suppression, liver problems, and heart failure. Use during pregnancy may result in harm to the baby. Imatinib works by Bcr-Abl tyrosine-kinase inhibitor, stopp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CD117
Proto-oncogene c-KIT is the gene encoding the receptor tyrosine kinase protein known as tyrosine-protein kinase KIT, CD117 ( cluster of differentiation 117) or mast/stem cell growth factor receptor (SCFR). Multiple transcript variants encoding different isoforms have been found for this gene. KIT was first described by the German biochemist Axel Ullrich in 1987 as the cellular homolog of the feline sarcoma viral oncogene v-kit. Function KIT is a cytokine receptor expressed on the surface of hematopoietic stem cells as well as other cell types. Altered forms of this receptor may be associated with some types of cancer. KIT is a receptor tyrosine kinase type III, which binds to stem cell factor, also known as "steel factor" or "c-kit ligand". When this receptor binds to stem cell factor (SCF) it forms a dimer that activates its intrinsic tyrosine kinase activity, that in turn phosphorylates and activates signal transduction molecules that propagate the signal in the cell. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
