TGFBR1
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TGFBR1
Transforming growth factor beta receptor I (activin A receptor type II-like kinase, 53kDa) is a membrane-bound TGF beta receptor protein of the TGF-beta receptor family for the TGF beta superfamily of signaling ligands. ''TGFBR1'' is its human gene. Function The protein encoded by this gene forms a heteromeric complex with type II TGF-β receptors when bound to TGF-β, transducing the TGF-β signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys–Dietz aortic aneurysm syndrome (LDS, LDAS). Interactions TGF beta receptor 1 has been shown to interact with: * Caveolin 1, * Endoglin, * FKBP1A, * FNTA, * Heat shock protein 90kDa alpha (cytosolic), member A1 * Mothers against decapentaplegic homolog 7, * PPP2R2A, * STRAP, * TGF beta 1, and * TGF beta receptor 2. Inhibitors * GW-788,388 * LY-2109761 * Galunisertib (LY-2157299) * SB-431,542 * SB-525,334 * Repsox ...
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Loeys–Dietz Syndrome
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment. There are five types of the syndrome, labelled types I through V, which are distinguished by their genetic cause. Type 1, Type 2, Type 3, Type 4 and Type 5 are caused by mutations in '' TGFBR1'', ''TGFBR2'', '' SMAD3'', ''TGFB2'', and ''TGFB3'' respectively. These five genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the body's tissu ...
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TGF Beta Receptor
Transforming growth factor beta (TGFβ) receptors are bitopic protein, single pass Receptor protein serine/threonine kinase, serine/threonine kinase receptors that belong to TGFβ superfamily receptor, TGFβ receptor family. They exist in several different isoforms that can be homodimeric, homo- or heterodimeric. (free full text) The number of characterized ligands in the TGFβ superfamily far exceeds the number of known receptors, suggesting the promiscuity that exists between the ligand and receptor interactions. TGFβ is a growth factor and cytokine involved in paracrine signalling and can be found in many different tissue (biology), tissue types, including brain, heart, kidney, liver, bone, and testes. Over-gene expression, expression of TGFβ can induce renal fibrosis, causing kidney disease, as well as diabetes, and ultimately end-stage renal disease. Recent developments have found that, using certain types of protein receptor antagonist, antagonists against TGFβ recepto ...
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Heat Shock Protein 90kDa Alpha (cytosolic), Member A1
Heat shock protein HSP 90-alpha is a protein that in humans is encoded by the ''HSP90AA1'' gene. Function The gene, HSP90AA1, encodes the human stress-inducible 90-kDa heat shock protein alpha (Hsp90A). Complemented by the constitutively expressed paralog Hsp90B which shares over 85% amino acid sequence identity, Hsp90A expression is initiated when a cell experiences proteotoxic stress. Once expressed Hsp90A dimers operate as molecular chaperones that bind and fold other proteins into their functional 3-dimensional structures. This molecular chaperoning ability of Hsp90A is driven by a cycle of structural rearrangements fueled by ATP hydrolysis. Current research on Hsp90A focuses in its role as a drug target due to its interaction with a large number of tumor promoting proteins and its role in cellular stress adaptation. Gene structure Human HSP90AA1 is encoded on the complement strand of Chromosome 14q32.33 and spans over 59 kbp. Several pseudogenes of HSP90AA1 exist th ...
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Mothers Against Decapentaplegic Homolog 7
Mothers against decapentaplegic homolog 7 or SMAD7 is a protein that in humans is encoded by the ''SMAD7'' gene. SMAD7 is a protein that, as its name describes, is a homolog of the Drosophila gene: "Mothers against decapentaplegic". It belongs to the SMAD family of proteins, which belong to the TGFβ superfamily of ligands. Like many other TGFβ family members, SMAD7 is involved in cell signalling. It is a TGFβ type 1 receptor antagonist. It blocks TGFβ1 and activin associating with the receptor, blocking access to SMAD2. It is an inhibitory SMAD (I-SMAD) and is enhanced by SMURF2. Smad7 enhances muscle differentiation. Structure Smad proteins contain two conserved domains. The Mad Homology domain 1 (MH1 domain) is at the N-terminal and the Mad Homology domain 2 (MH2 domain) is at the C-terminal. Between them there is a linker region which is full of regulatory sites. The MH1 domain has DNA binding activity while the MH2 domain has transcriptional activity. The linker re ...
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TGF Beta Receptor 2
Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. ''TGFBR2'' is its human gene. It is a tumor suppressor gene. Function This gene encodes a member of the serine/threonine protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan syndrome, Loeys-Deitz aortic aneurysm syndrome, Osler–Weber–Rendu syndrome, and the development of various types of tumors. At least 73 disease-causing mutations in this gene have been discovered. Alternatively spliced transcript variants encoding different isoforms have been characterized. Interactions TGF beta receptor 2 has been shown to ...
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TGF Beta 1
TGF may refer to: Medicine * Tubuloglomerular feedback, a reflex of the nephrons in the kidney * Transforming growth factor, either of two classes of polypeptide growth factors (TGF-α and TGF-β) Science * Terrestrial gamma-ray flash, a burst of gamma rays produced in the Earth's atmosphere, generally associated with lightning * Tidal Generating Force, an effect of gravity responsible for creating tides * Trivial Graph Format, a text-based file format for describing graphs Entertainment * The Games Factory, video game development software created by Clickteam * The Gracious Few, an American rock group from York, Pennsylvania Other * Chali language The Chali language ( Dzongkha: ཚ་ལི་ཁ་; Wylie: ''Tsha-li-kha''; also called "Chalikha," "Chalipkha," "Tshali," and "Tshalingpa") is an East Bodish language spoken by about 1,398 people in Wangmakhar, Gorsum and Tormazhong villages ..., by ISO 639 code See also

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Knock-in
In molecular cloning and biology, a gene knock-in (abbreviation: KI) refers to a genetic engineering method that involves the one-for-one substitution of DNA sequence information in a genetic locus or the insertion of sequence information not found within the locus. Typically, this is done in mice since the technology for this process is more refined and there is a high degree of shared sequence complexity between mice and humans. The difference between knock-in technology and traditional transgenic techniques is that a knock-in involves a gene inserted into a specific locus, and is thus a "targeted" insertion. It is the opposite of gene knockout. A common use of knock-in technology is for the creation of disease models. It is a technique by which scientific investigators may study the function of the regulatory machinery (e.g. promoters) that governs the expression of the natural gene being replaced. This is accomplished by observing the new phenotype of the organism in question. T ...
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Gene Knock-out
A gene knockout (abbreviation: KO) is a genetic technique in which one of an organism's genes is made inoperative ("knocked out" of the organism). However, KO can also refer to the gene that is knocked out or the organism that carries the gene knockout. Knockout organisms or simply knockouts are used to study gene function, usually by investigating the effect of gene loss. Researchers draw inferences from the difference between the knockout organism and normal individuals. The KO technique is essentially the opposite of a gene knock-in. Knocking out two genes simultaneously in an organism is known as a double knockout (DKO). Similarly the terms triple knockout (TKO) and quadruple knockouts (QKO) are used to describe three or four knocked out genes, respectively. However, one needs to distinguish between heterozygous and homozygous KOs. In the former, only one of two gene copies (alleles) is knocked out, in the latter both are knocked out. Methods Knockouts are accomplished throu ...
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SB-431,542
SB-431542 is a drug candidate developed by GlaxoSmithKline (GSK) as an inhibitor of the activin receptor-like kinase (ALK) receptors, ALK5, ALK4 and ALK7. However, it is ''not'' an inhibitor of anaplastic lymphoma kinase (which are commonly known as ALK inhibitors). In-vitro studies While SB-431542 has not proved directly useful for any clinical application, it is used for several applications in molecular biology. It suppresses the TGF-beta-induced proliferation of osteosarcoma cells in humans. Treatment with SB431542 is a robust, clinically applicable, and efficient system for generating mesenchymal stem/stromal cells (MSCs) from human iPSCs. SB431542 can also be used in combination with LDN193189, CHIR99021 and DAPT to transform astrocytes into neurons. It is also commonly used for immunological studies, for instance as a TGF-β inhibitor to facilitate the generation of dendritic cells from peripheral blood monocytes Monocytes are a type of leukocyte or white blood c ...
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Galunisertib
Galunisertib (LY2157299) is a small molecular experimental cancer drug previously in development by Eli Lilly. It is a TGF-b inhibitor. Development of galunisertib by Eli Lilly was discontinued in January 2020. Galunisertib was investigated in a phase II trial for treatment of hepatocellular carcinoma. Pre-clinically, combination of galunisertib with PD-L1 Programmed death-ligand 1 (PD-L1) also known as cluster of differentiation 274 (CD274) or B7 homolog 1 (B7-H1) is a protein that in humans is encoded by the ''CD274'' gene. Programmed death-ligand 1 (PD-L1) is a 40kDa type 1 transmembrane protei ... blockade resulted in improved tumor growth inhibition. References {{reflist Experimental cancer drugs ...
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