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

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).

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.

Pdgfra gene

protein coding gene. IDs. MGI:97530. NCBI Gene: 18595. PDGFRA gene amplification was identified in 4 anaplastic oligodendrogliomas and in a single case of anaplastic oligoastrocytoma, but in none of the malignant May 13, 2020 It is a rare cause of hypereosinophilia (HE) and hypereosinophilic syndrome ( HES).

Most GISTs have gain-of-function mutations in the KIT or PDGFRA gene. The tyrosine kinase is therefore continuously activated leading to ligand-independent

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.

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.

PDGFR. Platelet-derived growth factor receptor.

doi: 10.1371/journal.ppat.1008647.
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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.

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.
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Jun 2, 2020 Gene Expression Profiling of PDGFRA Mutant GIST Reveals Immune Signatures as a Specific Fingerprint of D842V Exon 18 Mutation.

The PDGFRA gene normally codes for a cell membrane receptor protein. To be turned on the PDGFRA receptor normally needs to bind to another Up to 85% of GIST tumors contain mutations in one of two genes, PDGFRA and KIT. These mutations lead to the production of aberrant KIT and PDGFRA proteins that drive the cancer, explained Dr. Heinrich. These two proteins can usually be shut down by imatinib and similar drugs, called tyrosine kinase inhibitors, that block the protein’s activity. 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.

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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

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.

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.

KRAS. Colon. Lung. BRAF. Papilliar Thyreoidea RET. MEM2.

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. To be turned on the PDGFRA receptor normally needs to bind to another Up to 85% of GIST tumors contain mutations in one of two genes, PDGFRA and KIT. These mutations lead to the production of aberrant KIT and PDGFRA proteins that drive the cancer, explained Dr. Heinrich. These two proteins can usually be shut down by imatinib and similar drugs, called tyrosine kinase inhibitors, that block the protein’s activity. 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.