PDGFRB


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PDGFRB

A gene on chromosome 5q33.1 that encodes a tyrosine-protein kinase which acts as a cell surface receptor for homodimeric PDGFB and PDGFD and for PDGFA and PDGFB heterodimers, playing a key role in regulating embryonic development; cell proliferation, survival, differentiation, chemotaxis and migration; blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells; and migration of vascular smooth muscle cells and formation of neointima at sites of vascular injury sites. It is required for normal development of the cardiovascular system, for recruitment of mesangial cells and for development of the capillary network in the glomeruli.
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Dr Manuel Ferreira, lead author of the study said: "We are now very close to treating these aneurysm patients with PDGFRB variants with specific receptor tyrosine kinase inhibitors".
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
Recently, Murray et al [12] reported the story of a 24-year-old woman, with PDGFRB mutation, who experienced late recurrences during her pregnancy (such as a lesion of the lower lip and a myofibroma histologically confirmed a few months later) after classical multicentric IM in infancy (skin, subcutaneous, bone and pancreatic masses) with spontaneous regression.
Higher expression of LAMA4 (p = 0.021), PDGFB (p < 0.001), PDGFRB (p = 0.01), CDH5 (p < 0.001), TJP2 (p = 0.035), and PECAM1 (p = 0.048) was observed in biopaper cocultures compared to PET cocultures.
[4] Human genes: APOA5, apolipoprotein A-V; PDGFRB, platelet-derived growth factor receptor beta; LDLRAP1, low density lipoprotein receptor adaptor protein 1; MMP9, matrix metallopeptidase 9; VEGFA, vascular endothelial growth factor A; ACTA2, actin, alpha 2, smooth muscle, aorta; APOC3, apolipoprotein C-III; CAV1, caveolin 1; CD40, CD40 molecule; CETP, cholesterol ester transfer protein, plasma; CIITA, class II, major histocompatibility complex, transactivator; FGG, fibrinogen gamma chain; GPX1, glutathione peroxidase 1; LPL, lipoprotein lipase; MBL2, mannose-binding lectin (protein C)2,soluble; MVK, mevalonate kinase; PITX2, paired like homeodomain 2; TNFRSF1A, tumor necrosis factor receptor superfamily, member 1A; UCP2, uncoupling protein 2 (mitochondrial, protein carrier).
Initial cytogenetic analysis revealed a t(5;12)(q31~33;p13) in 17 of 20 cells (Figure 1(c)) and a presumptive diagnosis of myeloid neoplasm with eosinophilia and translocation t(5;12) suggestive of PDGFRB rearrangement was made.
Koster et al., "PDGFRB promotes liver metastasis formation of mesenchymal-like colorectal tumor cells," Neoplasia (United States), vol.
The underlying mechanism is likely that CF whole extract up-regulated expression of certain genes for angiogenesis and associated growth factors and receptors, including IGF1, CTGF, NRP2, VEGFR3, HIF1A, MMP2, MMP9, TIMP2, PLG, PLAU, ITGAV, 1TGB3, beta-catenin, PECAM1, ANGPT1, TIE-2, PDGFRB, CDH5, S1PR1, FGF2, Shh, TGFRB1, and Ephrin B2.
La OMS, establecio una clasificacion semimolecular que a la fecha no ha sido actualizada, en la que incluyen los subtipos de la enfermedad eosinofilica como las neoplasias mieloides y linfoides con eosinofilia y anomalias geneticas, como las mutaciones de PDGFRA (de sus siglas en ingles: Platelet Derived Growth Factor Receptor Alpha), PDGFRB (Platelet Derived Growth Factor Receptor Beta), o FGFR1 (Fibroblast Growth Factor Receptor 1), la leucemia eosinofilica cronica sin otra especificacion (CEL, NOS), la hipereosinofilia variante linfocitica y el sindrome hipereosinofilico idiopatico con los criterios clasicos de Chusid (18).
MYB is predicted to suppress the expressions of key components in cancer-related signal transduction pathways, such as cell cycle, p53, PDGFRB, ERBB2 and VEGF (Figures S6.1-S6.3 and S6.5-S6.6).
Synthesized cDNA was used as a template for quantitative polymerase chain reaction (PCR) assays using TaqMan Universal PCR Master Mix (Life Technologies), AmpErase UNG (Life Technologies), and TaqMan probes [FGFR1 (Hs 00241111), FGFR2 (Hs 01552926), FGFR3 (Hs 00179829), FGFR4 (Hs 00242558), VEGFR1 (Hs 01904119), VEGFR2 (Hs 00176676), VEGFR3 (Hs 01047687), KIT (Hs 00174029), EGFR (Hs 00193306), PDGFRA (Hs 00183486), PDGFRB (Hs 00182163), MET (Hs 01565580), RET (Hs 01120032), 18S rRNA (Hs 99999901)] (Life Technologies, Carlsbad, CA) in an ABI 7900 PCR system (Life Technologies).
[115] report on another study which observed markedly upregulated genes including the growth factor/cytokine receptors MET (the hepatocyte growth factor receptor), FGFR3 (fibroblast growth factor receptor 3), LTBR (lymphotoxin b receptor), and PDGFRB (platelet-derived growth factor receptor b) in 11 patients with follicular lymphoma.