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FAM. 73. Copy Number Determination. CACNA1I KEGG KEGG_MAPK_SIGNALING_PATHWAY MAPK_SIGNALING_PATHWAY PDGFRA KEGG KEGG_MAPK_SIGNALING_PATHWAY People who don't have the FIP1L1-PDGFRA gene mutation are usually first treated with this corticosteroid. mL −1 and differential counts had no prognostic PDGFRA. GIST. KRAS.
Edfors-Lilja, I. av S Khan · Citerat av 2 — Myeloid differentiation primary response gene 88. MZL. Marginal zone Polymerase chain reaction. PDGFR. Platelet-derived growth factor receptor. PFS. av MS Carro · 2016 · Citerat av 17 — downloaded as Level 3 (gene level) data from TCGA (The Cancer Ge- chymal) and IDH1 (proneural), as well as amplifications of PDGFRA. Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a Vad gäller PDGFRA– och PDGFRB-fusioner, se även kapitlet ”Neoplasier brottspunkter, och det finns i dagsläget inga kända ”target genes”. 7, Application, AssayType, Gene, AAMutation, TargetName, Validated.
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. The PDGFRA-FIP1L1 gene is a constitutively activated tyrosine kinase that transforms hematopoietic cells and is a therapeutic target of imatinib.
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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. 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. 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).
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Max rank score in all spec Background: The prognostic impact of the expression profile of genes recurrently amplified in glioblastoma multiforme (GBM) remains controversial. Methods: We investigated the RNA gene expression profile of epidermal growth factor receptor (EGFR), cyclin-dependent kinase 4 (CDK4), murine doble minute 4 (MDM4), and platelet derived growth factor receptor alpha (PDGFRA) in 83 primary … 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). Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. 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.
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. 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
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).
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Se hela listan på en.wikipedia.org 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.
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.
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This test detects the FIP1L1-PDGFRA gene sequence to help diagnose these conditions. Both null and conditional (‘floxed’) alleles for the mouse Pdgfra gene (34, 36) were obtained, and were used to observe the effects that a range of PDGFRA dosage, from none (Pdgfra null/null) to half-normal amounts (Pdgfra null/+), would have on inflow tract development. PDGFRA is 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 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. 1990-04-01 · The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257).