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USP6
Ubiquitin carboxyl-terminal hydrolase 6 (USB6), also termed TRE17 and Tre-2, is a deubiquitinating enzyme that in humans is encoded by the hominid (i.e. found only in primates) ''USP6'' gene located at band 13.2 on the short (i.e. "p") arm of chromosome 17 (notated as 17p13.2). Deubiquitinating enzymes (DUBs) are enzymes that act within cells to remove ubiquitins from various functionally important proteins. Ubiquitin enzymes add ubiquitin to these proteins and thereby regulate their cellular location, alter their activity, and/or promote their degradation. By deubiquitinating these proteins, DUBs counter the effects of the ubiquinating enzymes and contribute to regulating the actions of the targeted proteins. In normal adult tissues, USP6 is highly expressed in testicle tissue, modestly expressed in ovarian tissue, and absent or minimally expressed in other tissues. It is also highly expressed in fetal brain tissue. The specific functions of USP6 are poorly defined primarily bec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nodular Fasciitis
Nodular fasciitis (NF) is a benign, soft tissue tumor composed of myofibroblasts (i.e. immature cells that contain features of myocytes and fibroblasts) that typically occurs in subcutaneous tissue (i.e. lowermost layer of the skin), fascia (i.e. band of connective tissue just beneath the skin), and/or muscles. The literature sometimes titles rare NF variants according to their tissue locations. The most frequently used and important of these are: cranial fasciitis (NF variants that occur in the soft and hard tissues of the skull) and intravascular fasciitis (NF variants that involve arteries and/or veins). In 2020, the World Health Organization classified nodular fasciitis as in the category of benign fibroblastic/myofibroblastic tumors. NF is the most common of the benign fibroblastic proliferative tumors of soft tissue and exceeds in frequency any other tumor or tumor-like lesion in this group of tumors. Nodular fasciitis is a rapidly growing, usually self-limiting neoplas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deubiquitinating Enzyme
Deubiquitinating enzymes (DUBs), also known as deubiquitinating peptidases, deubiquitinating isopeptidases, deubiquitinases, ubiquitin proteases, ubiquitin hydrolases, ubiquitin isopeptidases, are a large group of proteases that cleave ubiquitin from proteins. Ubiquitin is attached to proteins in order to regulate the degradation of proteins via the proteasome and lysosome; coordinate the cellular localisation of proteins; activate and inactivate proteins; and modulate protein-protein interactions. DUBs can reverse these effects by cleaving the peptide or isopeptide bond between ubiquitin and its substrate protein. In humans there are nearly 100 DUB genes, which can be classified into two main classes: cysteine proteases and metalloproteases. The cysteine proteases comprise ubiquitin-specific proteases (USPs), ubiquitin C-terminal hydrolases (UCHs), Machado-Josephin domain proteases (MJDs) and ovarian tumour proteases (OTU). The metalloprotease group contains only the Jab1/Mov34/ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aneurysmal Bone Cyst
Aneurysmal bone cyst (ABC) is a non-cancerous bone tumor composed of multiple varying sizes of spaces in a bone which are filled with blood. The term is a misnomer, as the lesion is neither an aneurysm nor a cyst. It generally presents with pain and swelling in the affected bone. Pressure on neighbouring tissues may cause compression effects such as neurological symptoms. The cause is unknown. Diagnosis involves medical imaging. CT scan and X-ray show lytic expansion lesions with clear borders. MRI reveals fluid levels. Treatment is usually by curettage, bone grafting or surgically removing the part of bone. 20–30% may recur, usually in the first couple of years after treatment, particularly in children. It is rare. The incidence is around 0.15 cases per one million per year. Aneurysmal bone cyst was first described by Jaffe and Lichtenstein in 1942. Signs and symptoms The afflicted may have relatively small amounts of pain that will quickly increase in severity over ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 17
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells. Chromosome 17 contains the Homeobox B gene cluster. Genes Number of genes The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right. The following are some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Inversion
An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm. The breakpoints of inversions often happen in regions of repetitive nucleotides, and the regions may be reused in other inversions. Chromosomal segments in inversions can be as small as 100 kilobases or as large as 100 megabases. The number of genes captured by an inversion can range from a handful of genes to hundreds of genes. Inversions can happen either through ectopic recombination, chromosomal breakage and repair, or non-homologous end joining. Inversions are of two types: paracentric and pericentric. Paracentric inversions do not include the centromere, and both breakpoints occur in one arm of the chromosome. Pericentric inversions span the centromere, and t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroma Of Tendon Sheath
Fibroma of tendon sheath is a benign tumor that presents as a small subcutaneous nodule that slowly increases in size. The tumors often have a multinodular growth pattern, with individual nodules being composed of bland, slender, spindle-shaped cells (myofibroblasts) in a dense, fibrous matrix.” A common microscopic finding is the presence of elongated, slit-like blood vessels. The lesions nearly always arise in the distal portions of the extremities. They often occur on the fingers, hands, toes, or feet. Although they are benign, they may recur in up to 40% of cases. Although they may be regarded as a tumor of the skin, the lesions arise from tendons and aponeuroses in superficial sites, and are therefore properly classified as in the category "soft tissue tumor." The World Health Organization, 2020, reclassified these tumors as a specific, benign tumor type in a broad category of soft tissue neoplasms termed fibroblastic and myofibroblastic tumors. The biological nature of Fib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ewing Sarcoma
Ewing sarcoma is a type of cancer that forms in bone or soft tissue. Symptoms may include swelling and pain at the site of the tumor, fever, and a bone fracture. The most common areas where it begins are the legs, pelvis, and chest wall. In about 25% of cases, the cancer has already spread to other parts of the body at the time of diagnosis. Complications may include a pleural effusion or paraplegia. It is a type of small round cell sarcoma. The cause of Ewing sarcoma is unknown. Most cases appear to occur randomly. Sometimes there has been a germline mutation. The underlying mechanism often involves a genetic change known as a reciprocal translocation. Diagnosis is based on biopsy of the tumor. Treatment often includes chemotherapy, radiation therapy, surgery, and stem cell transplant. Targeted therapy and immunotherapy are being studied. Five-year survival is about 70%. A number of factors, however, affect this estimate. James Ewing in 1920 established that the tumor is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NF-κB
Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) is a protein complex that controls transcription of DNA, cytokine production and cell survival. NF-κB is found in almost all animal cell types and is involved in cellular responses to stimuli such as stress, cytokines, free radicals, heavy metals, ultraviolet irradiation, oxidized LDL, and bacterial or viral antigens. NF-κB plays a key role in regulating the immune response to infection. Incorrect regulation of NF-κB has been linked to cancer, inflammatory and autoimmune diseases, septic shock, viral infection, and improper immune development. NF-κB has also been implicated in processes of synaptic plasticity and memory. Discovery NF-κB was discovered by Ranjan Sen in the lab of Nobel laureate David Baltimore via its interaction with an 11-base pair sequence in the immunoglobulin light-chain enhancer in B cells. Later work by Alexander Poltorak and Bruno Lemaitre in mice and ''Drosophila'' fr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C-Jun
Transcription factor Jun is a protein that in humans is encoded by the ''JUN'' gene. c-Jun, in combination with protein c-Fos, forms the AP-1 early response transcription factor. It was first identified as the Fos-binding protein p39 and only later rediscovered as the product of the JUN gene. c-jun was the first oncogenic transcription factor discovered. The proto-oncogene c-Jun is the cellular homolog of the viral oncoprotein v-jun (). The viral homolog v-jun was discovered in avian sarcoma virus 17 and was named for ''ju-nana'', the Japanese word for 17. The human JUN encodes a protein that is highly similar to the viral protein, which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. Function Regulation Both Jun and its dimerization partners in AP-1 formation are subject to regulation by diverse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STAT3
Signal transducer and activator of transcription 3 (STAT3) is a transcription factor which in humans is encoded by the ''STAT3'' gene. It is a member of the STAT protein family. Function STAT3 is a member of the STAT protein family. In response to cytokines and growth factors, STAT3 is phosphorylated by receptor-associated Janus kinases (JAK), forms homo- or heterodimers, and translocates to the cell nucleus where it acts as a transcription activator. Specifically, STAT3 becomes activated after phosphorylation of tyrosine 705 in response to such ligands as interferons, epidermal growth factor (EGF), Interleukin (IL-)5 and IL-6. Additionally, activation of STAT3 may occur via phosphorylation of serine 727 by Mitogen-activated protein kinases (MAPK) and through c-src non-receptor tyrosine kinase. STAT3 mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. STAT3-defic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Janus Kinase 1
JAK1 is a human tyrosine kinase protein essential for signaling for certain type I and type II cytokines. It interacts with the common gamma chain (γc) of type I cytokine receptors, to elicit signals from the IL-2 receptor family (e.g. IL-2R, IL-7R, IL-9R and IL-15R), the IL-4 receptor family (e.g. IL-4R and IL-13R), the gp130 receptor family (e.g. IL-6R, IL-11R, LIF-R, OSM-R, cardiotrophin-1 receptor (CT-1R), ciliary neurotrophic factor receptor (CNTF-R), neurotrophin-1 receptor (NNT-1R) and Leptin-R). It is also important for transducing a signal by type I (IFN-α/β) and type II (IFN-γ) interferons, and members of the IL-10 family via type II cytokine receptors. Jak1 plays a critical role in initiating responses to multiple major cytokine receptor families. Loss of Jak1 is lethal in neonatal mice, possibly due to difficulties suckling. Expression of JAK1 in cancer cells enables individual cells to contract, potentially allowing them to escape their tumor and me ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
JAK-STAT Signaling Pathway
The JAK-STAT signaling pathway is a chain of interactions between proteins in a cell, and is involved in processes such as immunity, cell division, cell death, and tumour formation. The pathway communicates information from chemical signals outside of a cell to the cell nucleus, resulting in the activation of genes through the process of transcription. There are three key parts of JAK-STAT signalling: Janus kinases (JAKs), signal transducer and activator of transcription proteins (STATs), and receptors (which bind the chemical signals). Disrupted JAK-STAT signalling may lead to a variety of diseases, such as skin conditions, cancers, and disorders affecting the immune system. Structure of JAKs and STATs ''Main articles: JAKs and STATs'' There are four JAK proteins: JAK1, JAK2, JAK3 and TYK2. JAKs contains a FERM domain (approximately 400 residues), an SH2-related domain (approximately 100 residues), a kinase domain (approximately 250 residues) and a pseudokinase doma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
