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Synaptophysin
Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the ''SYP'' gene. Gene The gene is located on the short arm of X chromosome (Xp11.23-p11.22). It is 12,406 bases in length and lies on the minus strand. Tissue distribution It is expressed in neuroendocrine cells and in virtually all neurons in the brain and spinal cord that participate in synaptic transmission. Structure The protein is a synaptic vesicle glycoprotein with four transmembrane domains weighing 38 kDa. Function The exact function of the protein is unknown: it interacts with the essential synaptic vesicle protein synaptobrevin, but when the synaptophysin gene is experimentally inactivated in animals, they still develop and function normally. Recent research has shown, however, that elimination of synaptophysin in mice creates behavioral changes such as increased exploratory behavior, impaired object novelty recognition, and reduced spatia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuroendocrine Tumor
Neuroendocrine tumors (NETs) are neoplasms that arise from cells of the endocrine (hormonal) and nervous systems. They most commonly occur in the intestine, where they are often called carcinoid tumors, but they are also found in the pancreas, lung, and the rest of the body. Although there are many kinds of NETs, they are treated as a group of tissue because the cells of these neoplasms share common features, including a similar histological appearance, having special secretory granules, and often producing biogenic amines and polypeptide hormones. The term "neuro" refers to the dense core granules (DCGs), similar to the DCGs in the serotonergic neurons storing monoamines. The term "endocrine" refers to the synthesis and secretion of these monoamines. The neuroendocrine system includes endocrine glands such as the pituitary, the parathyroids and the neuroendocrine adrenals, as well as endocrine islet tissue embedded within glandular tissue such as in the pancreas, and scatt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SIAH2
E3 ubiquitin-protein ligase SIAH2 is an enzyme that in humans is encoded by the ''SIAH2'' gene. Function This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. Interactions SIAH2 has been shown to interact with PEG10, Synaptophysin, PEG3 and VAV1 Proto-oncogene vav is a protein that in humans is encoded by the ''VAV1'' gene. Function The protein encoded by this proto-oncogene is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding .... References Further reading * * * * * * * * * * * * * * * * * {{refend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AP1G1
AP-1 complex subunit gamma-1 is a protein that in humans is encoded by the ''AP1G1'' gene. Function Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. Interactions AP1G1 has been shown to interact with: * AP1B1, * AP1GBP1, * AP1M1, * AP1S1, * NECAP2, * RABEP1 Rab GTPase-binding effector protein 1 is an enzyme that in humans is encoded by t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phaeochromocytoma
Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells and is part of the paraganglioma (PGL) family of tumors, being defined as an intra-adrenal PGL. These neuroendocrine tumors can be sympathetic, where they release catecholamines into the bloodstream which cause the most common symptoms, including hypertension (high blood pressure), tachycardia (fast heart rate), sweating, and headaches. Some PGLs may secrete little to no catecholamines, or only secrete paroxysmally (episodically), and other than secretions, PGLs can still become clinically relevant through other secretions or mass effect (most common with head and neck PGL). PGLs of the head and neck are typically parasympathetic and their sympathetic counterparts are predominantly located in the abdomen and pelvis, particularly concentrated at the organ of Zuckerkandl at the bifurcation of the aorta. Signs and symptoms The symptoms of a sympathetic pheochromocytoma are related to sympathetic n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neural Tissue
Nervous tissue, also called neural tissue, is the main tissue component of the nervous system. The nervous system regulates and controls body functions and activity. It consists of two parts: the central nervous system (CNS) comprising the brain and spinal cord, and the peripheral nervous system (PNS) comprising the branching peripheral nerves. It is composed of neurons, also known as nerve cells, which receive and transmit impulses to and from it , and neuroglia, also known as glial cells or glia, which assist the propagation of the nerve impulse as well as provide nutrients to the neurons. Nervous tissue is made up of different types of neurons, all of which have an axon. An axon is the long stem-like part of the cell that sends action potentials to the next cell. Bundles of axons make up the nerves in the PNS and tracts in the CNS. Functions of the nervous system are sensory input, integration, control of muscles and glands, homeostasis, and mental activity. Structure Ner ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Intellectual Disability
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition. X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males. Syndromes Several X-linked syndromes include intellectual disability as part of the presentation. These include: * Coffin–Lowry syndrome * DDX3X syndrome * MASA syndrome * MECP2 dup ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromogranin A
Chromogranin-A (CgA) or parathyroid secretory protein 1 is encoded in the human by the gene ''CHGA''. Cga is a member of the granin family of neuroendocrine secretory proteins. As such, it is located in secretory vesicles of neurons and endocrine cells such as islet beta cell secretory granules in the pancreas. Tissue distribution Examples of cells producing chromogranin-A (CgA) are chromaffin cells of the adrenal medulla, paraganglia, enterochromaffin-like cells and beta cells of the pancreas. It is present in islet beta cell secretory granules. chromogranin-A (CgA)+ Pulmonary neuroendocrine cells account for 0.41% of all epithelial cells in the conducting airway, but are absent from the alveoli. Function Chromogranin-A is the precursor to several functional peptides including vasostatin-1, vasostatin-2, pancreastatin, catestatin and . These peptides negatively modulate the neuroendocrine function of the releasing cell (autocrine) or nearby cells (paracrine). Chromogra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medullary Thyroid Carcinoma
Medullary thyroid cancer is a form of thyroid carcinoma which originates from the parafollicular cells (C cells), which produce the hormone calcitonin.Hu MI, Vassilopoulou-Sellin R, Lustig R, Lamont JP"Thyroid and Parathyroid Cancers"in Pazdur R, Wagman LD, Camphausen KA, Hoskins WJ (EdsCancer Management: A Multidisciplinary Approach 11 ed. 2008. Medullary tumors are the third most common of all thyroid cancers and together make up about 3% of all thyroid cancer cases. MTC was first characterized in 1959. Approximately 25% of medullary thyroid cancer cases are genetic in nature, caused by a mutation in the RET proto-oncogene. When MTC occurs by itself it is termed sporadic medullary thyroid cancer. Medullary thyroid cancer is seen in people with multiple endocrine neoplasia type 2, subtypes 2A and 2B. When medullary thyroid cancer due to a hereditary genetic disorder occurs without other endocrine tumours it is termed familial medullary thyroid cancer. Signs and symptoms The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medulloblastoma
Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two main parts, the larger cerebrum on top and the smaller cerebellum below towards the back. They are separated by a membrane called the tentorium. Tumors that originate in the cerebellum or the surrounding region below the tentorium are, therefore, called infratentorial. Historically, medulloblastomas have been classified as a primitive neuroectodermal tumor (PNET), but it is now known that medulloblastoma is distinct from supratentorial PNETs and they are no longer considered similar entities. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Metastasis all the way d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small-cell Carcinoma
Small-cell carcinoma, also known as oat cell carcinoma, is a type of highly malignant cancer that most commonly arises within the lung, although it can occasionally arise in other body sites, such as the cervix, prostate, and gastrointestinal tract. Compared to non-small cell carcinoma, small cell carcinoma is more aggressive, with a shorter doubling time, higher growth fraction, and earlier development of metastases. Extensive stage small cell lung cancer (SCLC) is classified as a rare disorder. Ten-year relative survival rate (combined limited and extensive SCLC) is 3.5% (4.3% for women, 2.8% for men). Survival can be higher or lower based on a combination of factors including stage, age, sex and race. While all lung cancers are associated with tobacco smoking, SCLC is very strongly associated with tobacco smoking. Types Lung cancer Small-cell lung carcinoma (SCLC) has long been divided into two clinicopathological stages, termed limited stage (LS) and extensive stage (ES). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carcinoid
A carcinoid (also carcinoid tumor) is a slow-growing type of neuroendocrine tumor originating in the cells of the neuroendocrine system. In some cases, metastasis may occur. Carcinoid tumors of the midgut (jejunum, ileum, appendix, and cecum) are associated with carcinoid syndrome. Sometimes, carcinoids cause paraneoplastic syndromes, which involve discharge of serotonin and other vasoactive substances from well-differentiated carcinoids. A neuroendocrine paraneoplastic syndrome involves neoplastic secretion of functional peptides, hormones, cytokines, growth factors, and/or immune cross-reactivity between tumor tissues and normal host tissues, resulting in a syndrome of clinical signs and symptoms. Carcinoid tumors are the most common malignant tumor of the appendix, but they are most commonly associated with the small intestine, and they can also be found in the rectum and stomach. They are known to grow in the liver, but this finding is usually a manifestation of metastati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
