Gastrointestinal stromal tumor (GIST) is mainly initialized by mutations in receptor tyrosine kinase genes KIT or PDGFRA. The development of imatinib, a small

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 .

Genomics. 14. 965-969. Edfors-Lilja, I. av S Khan · Citerat av 2 — Myeloid differentiation primary response gene 88. MZL. Marginal zone Polymerase chain reaction. PDGFR.

E-version Activating mutations of PDGFRA, the gene encoding PDGFRα, resulting in. (PDGFRA-D842V) or amplification of PDGFRA or internal tandem duplication FLT3/TKD Mutation · PDGFR-Alpha D842V · PDGFRA Gene Amplification. rare mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene are important events in gastrointestinal stromal tumor (GIST) development. BACKGROUND: Gastrointestinal stromal tumors (GISTs) express the receptor tyrosine kinase KIT. Most GISTs have mutations in the KIT or PDGFRA gene, causing the platelet-derived growth factor receptor alpha gene (PDGFRA; 45% and 50%, high-grade astrocytomas, often with associated PDGFRA gene amplification. av U De Giorgi · 2005 · Citerat av 67 — Mutations in the PDGFRα gene involve either exon 18 or 12 (43, 44, KIT exon, and all PDGFR-mutant GISTs are found in tumors lacking a Swedish University dissertations (essays) about PDGFRA.

XL PDGFRA BA consists of a green-labeled probe hybridizing proximal to the PDGFRA gene region at 4q12 and an orange-labeled probe hybridizing distal to the PDGFRA gene region at 4q12. Probe maps are created in accordance with the intended purpose of the product.

pdgfra ID ZDB-GENE-990415-208 Name platelet-derived growth factor receptor, alpha polypeptide Symbol pdgfra Nomenclature History Previous Names. pdgfr-a (); etID309717.20 (); wu:fc27f02 The FIP1L1-PDGFRA fusion gene is an important oncogenic driver of chronic eosinophilic leukemia, now referred to as the WHO subcategory ‘myeloid and lymphoid neoplasms with eosinophilia and In each of these rearrangements, the breakpoints in PDGFRA partner genes are variable, but the breakpoints in PDGFRA invariably involve exon 12 encoding a portion of the juxtamembrane domain with autoinhibitory function (Baxter et al., 2002; Gotlib et al., 2008); the disruption of which activates the fusion protein (Figure 2).

Current Gene List2. Entire coding sequence (base substitutions, indels, copy number alterations). ABL1. ACTB. AKT1. AKT2. AKT3. ALK. AMER1 (FAM123B or

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. 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.

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 (platelet-derived growth factor receptor, alpha polypeptide) encodes the platelet-derived growth factor receptor alpha protein. PDGFRA mutations lead to kinase activation. Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. PDGFRA, i.e.
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(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 … Cell atlas. Showing subcellular location of PDGFRA (CD140a, GAS9, PDGFR2). 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).

PDGFRA mutations lead to kinase activation. Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. PDGFRA alternative transcripts resulting in PDGFRA gene fusions are associated with aematological malignancies and eosinophilia. Transcript and protein expression of PDGFRA matched well with its increased copy number suggesting a central role of PDGFRA within the amplicon in malignant peripheral nerve sheath tumors.
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In most cases, GISTs spontaneously arise due to somatic mutations in the KIT gene, and less frequently in the PDGFRA gene. Families with GISTs and germline

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.

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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. Here, we present a gene expression

(1989) localized the PDGFRA gene to 4q11-q12 by in situ hybridization. Disteche et al. (1989) and Gronwald et al.