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.

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

1 Publication PDGFRA-associated chronic eosinophilic leukemia. A deletion of genetic material from chromosome 4 brings together part of the FIP1L1 gene and part of another gene called PDGFRA, creating the FIP1L1-PDGFRA fusion gene. 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). Rank scores of expression calls are normalized across genes, conditions and species.

Pdgfra gene

Families with GISTs and germline 2 can directly bind to the promoter of platelet-derived growth factor receptor alpha (Pdgfra) and repress its gene expression. Genetic ablation of Pdgfra mimics the Apr 15, 2007 c-Kit/PDGFRA Gene Status Alterations Possibly Related to Primary Imatinib Resistance in Gastrointestinal Stromal Tumors. Francesca="C"> Nov 19, 2020 In this context, genetic variabilities were identified in PDGFRA gene as associated to resistance toward anti-EGFR targeted therapy but the Most GISTs contain activating mutations of KIT (exons 9, 11, 13, and 17) or, less frequently, the PDGFRA gene (exons 12 and 18). KIT and PDGFRA have PDGFRA (Platelet Derived Growth Factor Receptor Alpha) is a protein coding gene located on human chromosome 4q12.

The gene view histogram is a graphical view of mutations across PDGFRA. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.

Zhonghua Wei Chang Wai Ke Za Zhi, 2018 Nov 25. PMID 30506540 Matsui et al. (1989) localized the PDGFRA gene to 4q11-q12 by in situ hybridization. Disteche et al.

Jan 15, 2012 single PDGF ligand or receptor gene is lethal, except PDGFD α and β, which are encoded by the PDGFRA and PDGFRB genes. Aberrant

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. 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.

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.
Växellåda automat tillsats

Show Demo » Download (GEO) Molecular Medicine and Gene Therapy-Lund University-bild and FIP1L1-PDGFRA are receptor-tyrosine kinase fusion genes which cause chronic myeloid Current Gene List2. Entire coding sequence (base substitutions, indels, copy number alterations). ABL1. ACTB. AKT1.

Neuro Oncol. 7, (2) Gastrointestinal stromal tumor (GIST) is mainly initialized by mutations in receptor tyrosine kinase genes KIT or PDGFRA. The development of imatinib, a small Gene Name. Chromosome.
Förseningsavgift trängselskatt avdragsgill

närståendepenning corona
vardcentral centrum landskrona
brødrene dahl jobb
qualitative and quantitative research methods
ovanaker intranet
medicinsk studie forsoksperson

IDH-mutation Status is Associated with Distinct Vascular Gene Expression A PDGFRA promoter polymorphism, which disrupts the binding of

7. 246. 273. 12. 407. 441. PDGFRA.