Aquarius FIP1L1/CHIC2/PDGFRA Deletion/Fusion Probe är ett kvalitativt där kännedom om rearrangemang av F1P1L1-CHIC2-PDGFRA skulle ha betydelse 

Gene name. PDGFRA (HGNC Symbol) Synonyms. CD140a, PDGFR2: Description. Platelet-derived growth factor receptor, alpha polypeptide (HGNC Symbol) Entrez gene summary. This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin.

The poly (A) tail is important for stability of the mRNA and for protein production from the blueprint. Other Names for This Gene An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene. Retained intron 2016-03-08 2021-03-06 2010-01-13 FIP1L1-PDGFRA is an abnormal fusion gene sequence that causes the bone marrow to produce too many eosinophils, a type of white blood cell. It is a rare cause of hypereosinophilia (HE) and hypereosinophilic syndrome (HES). This test detects the FIP1L1-PDGFRA gene sequence to help diagnose these conditions. In a recent study, a novel tyrosine kinase, generated from fusion of the Fip1-like 1 (FIP1L1) gene to the PDGFRA gene, was identified in 9 of 16 patients (56%) with HES. 10 This fusion results from an approximately 800-kb interstitial chromosomal deletion that includes the cysteine-rich hydrophobic domain 2 (CHIC2) locus. PDGFRA is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family.

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PMID 30506540 Matsui et al. (1989) localized the PDGFRA gene to 4q11-q12 by in situ hybridization. Disteche et al. (1989) and Gronwald et al. (1990) confirmed the assignment of PDGFR2 to 4q11-q12 by in situ hybridization and by Southern analysis of a Chinese hamster/human cell hybrid that retained only human chromosome 4.

The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Platelet Derived Growth Factor Receptor Alpha (PDGFRA) mutations occur in only about 5–7% of gastrointestinal stromal tumors (GIST), notably with alterations on exons 12/14/18. The most frequent PDGFRA mutation is the exon 18 D842V, which is correlated to specific clinico-pathological features, such as primary imatinib resistance and higher indolence.

Protein attributes for PDGFRA Gene Interacts with homodimeric PDGFA, PDGFB and PDGFC, and with heterodimers formed by PDGFA and PDGFB. Monomer in the (Microbial infection) Interacts with human cytomegalovirus/HHV-5 envelope glycoprotein B/gB. Interacts also with the Sequence=AAP69563.1;

PDGFRA mutations lead to kinase activation. Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. PDGFRA, i.e. platelet-derived growth factor receptor A, also termed PDGFRα, i.e.

The CPSF protein complex helps add a string of the RNA building block adenine to the mRNA, creating a polyadenine tail or poly (A) tail. The poly (A) tail is important for stability of the mRNA and for protein production from the blueprint. Other Names for This Gene

These growth factors are mitogens for cells of mesenchymal origin. PDGFRA has 9,009 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 93 datasets. DGIdb, The Drug Gene Interaction Database, is a research resource that can be used to search candidate genes or drugs against the known and potentially druggable genome. PDGFRB (Platelet Derived Growth Factor Receptor Beta) is a Protein Coding gene. Diseases associated with PDGFRB include Premature Aging Syndrome, Penttinen Type and Kosaki Overgrowth Syndrome.

PDGFRA - Explore an overview of PDGFRA, with a histogram displaying coding mutations, full tabulated details of all associated … Rank scores of expression calls are normalized across genes, conditions and species. Low score means that the gene is highly expressed in the condition. Max rank score in all spec Plasmid pHAGE-PDGFRA from Dr. Kenneth Scott's lab contains the insert PDGFRA and is published in Cancer Cell. 2018 Mar 12;33(3):450-462.e10. doi: 10.1016/j.ccell.2018.01.021.
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;9(2):380‐5 (1991)  Såsom visas i figur la, kan PDGFRa-immunfärgning hittas i både acinar- och Fördelningarna av PDGFRa och HSPG som ses här i rhesus parotidkörtlar liknar  the gene expression of LAT2, a minor tryptophan transporter, which Pretreatment mutational analysis of KIT and PDGFRA optimizes. Pbg Test, Pca3 Test, Pche Test, Pct Test, Pcv Test, Pdgfra-fip1l1 Gene Rearrangement Test, Pdw Test, Pericardial Fluid Analysis Test, Peripheral Blood Smear  RAF1 (CRAF).

Diseases associated with PDGFRA include fibrosarcoma of bone , and hypereosinophilic syndrome .
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The PDGFRA-FIP1L1 gene is a constitutively activated tyrosine kinase that transforms hematopoietic cells and is a therapeutic target of imatinib. Cools et al. (2003) identified the PDGFRA-FIP1L1 gene in 9 of 16 patients with idiopathic hypereosinophilic syndrome and in 5 of 9 patients with responses to imatinib that lasted more than 3 months.

The PDGFRA gene provides instructions for making a protein called platelet-derived growth factor receptor alpha (PDGFRA), which is part of a family of proteins called receptor tyrosine kinases (RTKs).