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2019-09-01 An important paralog of this gene is PDGFRA. UniProtKB/Swiss-Prot Summary for PDGFRB Gene Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Gene target information for PDGFRA - platelet derived growth factor receptor alpha (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments. Abstract. Gene rearrangement in the form of an intragenic deletion is the primary mechanism of oncogenic mutation of the epidermal growth factor receptor (EGFR) gene in gliomas.However, the incidence of platelet-derived growth factor receptor-α (PDGFRA) gene rearrangement in these tumors is unknown.We investigated the PDGFRA locus in PDGFRA-amplified gliomas and identified two … Gene Symbol: PDGFRA: Synonyms: CD140A | PDGFR-2 | PDGFR2: Gene Description: PDGFRA, platelet-derived growth factor receptor alpha, is a receptor tyrosine kinase that activates PI3K/Akt, RAS/MAPK, and JAK/STAT pathways to promote cell proliferation and survival (PMID: 21605429).PDGFRA mutations have been detected in melanoma, AML, peripheral nerve sheath tumors, sarcoma, and neuroendocrine 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.

(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. Gastrointestinal stromal tumors (GIST) carrying the D842V activating mutation in the platelet-derived growth factor receptor alpha ( PDGFRA ) gene are a very rare subgroup of GIST (about 10%) known to be resistant to conventional tyrosine kinase inhibitors (TKIs) and to show an indolent behavio … PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) is a protein-coding gene. Diseases associated with PDGFRA include fibrosarcoma of bone , and hypereosinophilic syndrome . GO annotations related to this gene include platelet-derived growth factor receptor binding and protein homodimerization activity . 2018-07-23 This fusion gene is produced by an approximately 800-kilobase deletion on chromosome 4q12, with consequent fusion of the adjacent FIP1L1 and PDGFRA genes.

People with gastrointestinal stromal tumors (GIST) driven by a specific gene alteration have a new targeted drug option for treatment. On January 9, the Food and Drug Administration (FDA) approved avapritinib (Ayvakit) for some adults with GIST whose tumors have an alteration in a portion of the PDGFRA gene called exon 18. FIP1L1-PDGFRA is an abnormal fusion gene sequence that causes the bone marrow to produce too many eosinophils, a type of white blood cell.

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Description. platelet derived growth factor receptor alpha [Source:HGNC Symbol;Acc:HGNC:8803]. Gene Synonyms. pdgfra.

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Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. The PDGFRA gene encodes platelet-derived growth factor receptor alpha, one of a family of receptor tyrosine kinases involved in cell-signal transduction and control multiple cellular processes such as cell growth, proliferation, and survival. 2021-03-22 Gene name: PDGFRA (HGNC Symbol) Synonyms: CD140a, GAS9, PDGFR2: Description: Platelet derived growth factor receptor alpha (HGNC Symbol) Chromosome: 4: Cytoband: q12: Chromosome location (bp) 54229097 - 54298247: Number of transcripts i PDGFRA gene rearrangements are frequent genetic events in PDGFRA-amplified glioblastomas Gene rearrangement in the form of an intragenic deletion is the primary mechanism of oncogenic mutation of the epidermal growth factor receptor (EGFR) gene in gliomas.

Probe maps are created in accordance with the intended purpose of the product. The gene is formed by the fusion of fragments of two other genes called PDGFRA and FIP1L1. This fusion gene then produces a fusion protein which is made up of parts of both the PDGFRA and FIP1L1 proteins. The PDGFRA gene normally codes for a cell membrane receptor protein. Gene: PDGFRA OTTHUMG00000128699. Description. platelet-derived growth factor receptor,

Genes and/or transcript that contains an open reading frame Jul 6, 2018 The PDGFRA gene encodes the platelet-derived growth factor receptor alpha, a member of the type III tyrosine kinase receptor family, which However, the incidence of platelet-derived growth factor receptor-α (PDGFRA) gene rearrangement in these tumors is unknown.
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Top Disease Cases with PDGFRA Fusion 2018-07-23 · The infant genotypes of four variants (i.e. rs2291591, rs2228230, rs1547904, and rs869978) in the PDGFRA gene were found to associate with the risk of OHDs through an interaction with maternal Gene name. PDGFRA (HGNC Symbol) Synonyms. CD140a, PDGFR2: Description. Platelet-derived growth factor receptor, alpha polypeptide (HGNC Symbol) Entrez gene summary.

J Pathol 2008;216:176–182.
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However, the mechanism causing the increase is unspecified. C235R missense: unknown PDGFRA Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, PDGFRA Genome Browser, PDGFRA References PDGFRA - Explore an overview of PDGFRA, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. Se hela listan på gistsupport.org Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers.

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The gene for dominant white colour in the pig is closely linked to ALB and PDGFRA on chromosome 8.

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On January 9, the Food and Drug Administration (FDA) approved avapritinib (Ayvakit) for some adults with GIST whose tumors have an alteration in a portion of the PDGFRA gene called exon 18. This fusion gene is produced by an approximately 800-kilobase deletion on chromosome 4q12, with consequent fusion of the adjacent FIP1L1 and PDGFRA genes. The initial reports of the FIP1L1/PDGFRA fusion gene identified this abnormality in cases that had previously been diagnosed as hypereosinophilic syndrome, chronic eosinophilia leukemia or systemic mastocytosis with eosinophilia. PDGFRA act mut indicates that this variant results in a gain of function in the Pdgfra protein. However, the specific amino acid change has not been identified. amp none: no effect: PDGFRA amplification indicates an increased number of copies of the PDGFRA gene.

Top Disease Cases with PDGFRA Fusion 2018-07-23 · The infant genotypes of four variants (i.e.