| 1 | PDGFRB
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| Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
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| Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M Jr.
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| Am J Hum Genet 104(5):968-976. doi: 10.1016/j.ajhg.2019.03.014. Epub 2019 Apr 25.
2019
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| 2 | BGCI1, BGCI4, BGCI5, IBGC6, PDGFB, PDGFRB, SLC20A2, XPR1
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| Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
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| Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ.
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| Hum Mutat. Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15 2019
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| 3 | KOGS, PDGFRB
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| Expansion of the phenotype of Kosaki overgrowth syndrome.
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| Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ.
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| Am J Med Genet A 173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22.
2017
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| 4 | PDGFRB, PENTT
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| A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
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| Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG.
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| Am J Hum Genet 97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13.
2015
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| 5 | PDGFRA, PDGFRB
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| PDGF signalling in the dermis and in dermal condensates is dispensable for hair follicle induction and formation.
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| Rezza A, Sennett R, Tanguy M, Clavel C, Rendl M.
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| Exp Dermatol 24(6):468-70. doi: 10.1111/exd.12672. Epub 2015 Mar 25.
2015
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| 6 | PDGFRB, PTPN23
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| The catalytically inactive tyrosine phosphatase HD-PTP/PTPN23 is a novel regulator of SMN complex localization.
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| Husedzinovic A, Neumann B, Reymann J, Draeger-Meurer S, Chari A, Erfle H, Fischer U, Gruss OJ.
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| Mol Biol Cell 26(2):161-71. doi: 10.1091/mbc.E14-06-1151. Epub 2014 Nov 12.
2015
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| 7 | KOGS, PDGFRB
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| Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
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| Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki K.
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| J Pediatr 166(2):483-6. doi: 10.1016/j.jpeds.2014.10.015. Epub 2014 Nov 18.
2015
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| 8 | PDGFRB, SLC20A1
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| Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
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| Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.
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| Neurology 80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.
2013
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| 9 | IMF1, PDGFRB
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| A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis.
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| Cheung YH, Gayden T, Campeau PM, Leduc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.
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| Am J Hum Genet m J Hum Genet. 2013 May 22. doi:pii: S0002-9297(13)00213-9. 10.1016/j.ajhg.2013.04.026. [Epub ahead of print]
2013
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| 10 | IMF1, IMF2, NOTCH3, PDGFRB
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| Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis.
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| Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H.
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| Am J Hum Genet m J Hum Genet. 2013 May 22. doi:pii: S0002-9297(13)00211-5. 10.1016/j.ajhg.2013.04.024. [Epub ahead of print] 2013
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| 11 | BGCI4, PDGFRB
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| Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
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| Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.
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| Neurology 80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.
2013
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| 12 | IMF1, IMF2, NOTCH3, PDGFRB
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| Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.
|
| Lee JW.
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| Clin Genet 84(4):340-1. doi: 10.1111/cge.12238. Epub 2013 Jul 31. No abstract available.
2013
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| 13 | PDGFRB
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| PDGFRβ triggered by bFGF promotes the proliferation and migration of endothelial progenitor cells via p-ERK signalling.
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| Guo S, Yu L, Cheng Y, Li C, Zhang J, An J, Wang H, Yan B, Zhan T, Cao Y, Zheng H, Li Z.
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| Cell Biol Int 36(10):945-50. doi: 10.1042/CBI20110657.
2012
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| 14 | PDGFRB
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| Blockade of PDGFR-β activation eliminates morphine analgesic tolerance.
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| Wang Y, Barker K, Shi S, Diaz M, Mo B, Gutstein HB.
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| Nat Med 18(3):385-7. doi: 10.1038/nm.2633.
2012
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| 15 | PDGFRB
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| PDGFRβ expression and function in fibroblasts derived from pluripotent cells is linked to DNA demethylation.
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| Hewitt KJ, Shamis Y, Knight E, Smith A, Maione A, Alt-Holland A, Sheridan SD, Haggarty SJ, Garlick JA.
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| J Cell Sci 125(Pt 9):2276-87. doi: 10.1242/jcs.099192. Epub 2012 Feb 17.
2012
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| 16 | PDGFRB
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| PDGF receptor β signaling in pericytes following ischemic brain injury.
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| Arimura K, Ago T, Kamouchi M, Nakamura K, Ishitsuka K, Kuroda J, Sugimori H, Ooboshi H, Sasaki T, Kitazono T.
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| Curr Neurovasc Res 9(1):1-9.
2012
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| 17 | PDGFRB
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| Platelet-derived growth factor receptor-β-positive telocytes in skeletal muscle interstitium.
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| Suciu LC, Popescu BO, Kostin S, Popescu LM.
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| J Cell Mol Med 16(4):701-7. doi: 10.1111/j.1582-4934.2011.01505.x.
2012
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| 18 | PDGFRB
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| PDGFR-β as a positive regulator of tissue repair in a mouse model of focal cerebral ischemia.
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| Shen J, Ishii Y, Xu G, Dang TC, Hamashima T, Matsushima T, Yamamoto S, Hattori Y, Takatsuru Y, Nabekura J, Sasahara M.
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| J Cereb Blood Flow Metab 32(2):353-67. doi: 10.1038/jcbfm.2011.136. Epub 2011 Sep 28.
2012
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| 19 | PDGFRB, TGM2
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| Tissue transglutaminase promotes PDGF/PDGFR-mediated signaling and responses in vascular smooth muscle cells.
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| Zemskov EA, Mikhailenko I, Smith EP, Belkin AM.
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| J Cell Physiol 227(5):2089-96. doi: 10.1002/jcp.22938.
2012
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| 20 | ETV6, HDAC3, IRF8, PDGFRB, PTPN13
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| The leukemia-associated fusion protein Tel-platelet-derived growth factor receptor β (Tel-PdgfRβ) inhibits transcriptional repression of PTPN13 gene by interferon consensus sequence binding protein (Icsbp).
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| Huang W, Hu L, Bei L, Hjort E, Eklund EA.
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| J Biol Chem 287(11):8110-25. doi: 10.1074/jbc.M111.294884. Epub 2012 Jan 18.
2012
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| 21 | LRP6, PDGFRB
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| Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation.
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| Keramati AR, Singh R, Lin A, Faramarzi S, Ye ZJ, Mane S, Tellides G, Lifton RP, Mani A.
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| Proc Natl Acad Sci U S A 108(5):1914-8. Epub 2011 Jan 18.
2011
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| 22 | CDKN2A, EZH2, PDGFA, PDGFRA, PDGFRB
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| PDGF signalling controls age-dependent proliferation in pancreatic β-cells.
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| Chen H, Gu X, Liu Y, Wang J, Wirt SE, Bottino R, Schorle H, Sage J, Kim SK.
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| Nature 478(7369):349-55. doi: 10.1038/nature10502.
2011
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| 23 | PDGFRB, SH2B3
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| Adaptor protein Lnk binds to PDGF receptor and inhibits PDGF-dependent signaling.
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| Gueller S, Hehn S, Nowak V, Gery S, Serve H, Brandts CH, Koeffler HP.
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| Exp Hematol 39(5):591-600. doi: 10.1016/j.exphem.2011.02.001. Epub 2011 Mar 1.
2011
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| 24 | PDGFRB, SLC6A4
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| Serotonin transporter interacts with the PDGFβ receptor in PDGF-BB-induced signaling and mitogenesis in pulmonary artery smooth muscle cells.
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| Ren W, Watts SW, Fanburg BL.
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| Am J Physiol Lung Cell Mol Physiol 300(3):L486-97. doi: 10.1152/ajplung.00237.2010. Epub 2010 Dec 24.
2011
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| 25 | PDGFRB
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| Molecular cloning of the human platelet-derived growth factor receptor beta (PDGFR-beta) promoter and drug targeting of the G-quadruplex-forming region to repress PDGFR-beta expression.
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| Qin Y, Fortin JS, Tye D, Gleason-Guzman M, Brooks TA, Hurley LH.
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| Biochemistry 49(19):4208-19.PMID: 20377208 2010
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| 26 | NRP1, PDGFRA, PDGFRB
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| Neuropilin-1 regulates platelet-derived growth factor receptor signalling in mesenchymal stem cells.
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| Ball SG, Bayley C, Shuttleworth CA, Kielty CM.
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| Biochem J 427(1):29-40. 2010
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| 27 | PDGFRB, ZNF24
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| The transcriptional repression of platelet-derived growth factor receptor-beta by the zinc finger transcription factor ZNF24.
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| Li J, Chen X, Liu Y, Ding L, Qiu L, Hu Z, Zhang J.
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| Biochem Biophys Res Commun 397(2):318-22. Epub 2010 May 26.PMID: 20510677 2010
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| 28 | MYO18A, PDGFRB
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| Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2).
|
| Walz C, Haferlach C, Hänel A, Metzgeroth G, Erben P, Gosenca D, Hochhaus A, Cross NC, Reiter A.
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| Genes Chromosomes Cancer 48(2):179-83.
2009
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| 29 | PDGFRB
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| Kinetics of repression by modified p53 on the PDGF beta-receptor promoter.
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| Yang W, Wetterskog D, Matsumoto Y, Funa K.
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| Int J Cancer 123(9):2020-30.
2008
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| 30 | PDGFA, PDGFB, PDGFRA, PDGFRB
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| Platelet-derived growth factors (PDGF-A and -B) and their receptors in human fetal and adult ovaries.
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| Pinkas H, Fisch B, Rozansky G, Felz C, Kessler-Icekson G, Krissi H, Nitke S, Ao A, Abir R.
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| Mol Hum Reprod 14(4):199-206. Epub 2008 Mar 7.PMID: 18326546 2008
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| 31 | PDGFRB, SPTBN1
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| Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders.
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| Gallagher G, Horsman DE, Tsang P, Forrest DL.
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| Cancer Genet Cytogenet 181(1):46-51.
2008
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| 32 | PDGFRB, TPM3
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| TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia.
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| Rosati R, La Starza R, Luciano L, Gorello P, Matteucci C, Pierini V, Romoli S, Crescenzi B, Rotoli B, Martelli MF, Pane F, Mecucci C.
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| Leukemia 20(9):1623-4. Epub 2006 Jul 13. No abstract available.
2006
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| 33 | PDGFRB
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| The platelet-derived growth factor receptor-beta phosphorylates and activates G protein-coupled receptor kinase-2. A mechanism for feedback inhibition.
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| Wu JH, Goswami R, Kim LK, Miller WE, Peppel K, Freedman NJ.
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| J Biol Chem 280(35):31027-35. Epub 2005 Jul 1.
2005
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| 34 | PDGFRB
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| A gain of function mutation in the activation loop of platelet-derived growth factor beta-receptor deregulates its kinase activity.
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| Chiara F, Goumans MJ, Forsberg H, Ahgren A, Rasola A, Aspenstrom P, Wernstedt C, Hellberg C, Heldin CH, Heuchel R.
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| J Biol Chem 279(41):42516-27. Epub 2004 Jul 28. 2004
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| 35 | NIN, PDGFRB
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| NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder.
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| Vizmanos JL, Novo FJ, Roman JP, Baxter EJ, Lahortiga I, Larrayoz MJ, Odero MD, Giraldo P, Calasanz MJ, Cross NC.
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| Cancer Res 64(8):2673-6. 2004
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| 36 | ETV6, PDGFRB
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| Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta.
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| Steer EJ, Cross NC.
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| Acta Haematol 107(2):113-22. Review. 2002
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| 37 | PDGFRB, PTPN11
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| SHP-2 is involved in heterodimer specific loss of phosphorylation of Tyr771 in the PDGF beta-receptor.
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| Ekman S, Kallin A, Engstrom U, Heldin CH, Ronnstrand L.
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| Oncogene 21(12):1870-5. 2002
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| 38 | APBB1, APBB2, APBB3, MAGI1, BAIAP2, NEDD4, PDGFRB, PIN1
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| Function of WW domains as phosphoserine- or phosphothreonine-binding modules.
|
| Lu PJ, et al.
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| Science 283(5406):1325-8. 1999
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| 39 | PDGFRA, PDGFRB
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| Chimaeric analysis reveals role of Pdgf receptors in all muscle lineages.
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| Crosby JR, Seifert RA, Soriano P, Bowen-Pope DF.
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| Nat Genet 18(4):385-8. 1998
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| 40 | HIP1, PDGFRB
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| Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).
|
| Ross TS, Bernard OA, Berger R, Gilliland DG.
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| Blood 91(12):4419-26. 1998
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| 41 | PDGFRB
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| A single amino acid substitution in a WW-like domain of diverse members of the PDGF receptor subfamily of tyrosine kinases causes constitutive receptor activation.
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| Irusta PM, DiMaio D.
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| EMBO J 17(23):6912-23. 1998
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| 42 | ETV6, PDGFRB
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| The TEL/platelet-derived growth factor beta receptor (PDGFbetaR) fusion in chronic myelomonocytic leukemia is a tranforming protein that self-associates and activates PDGFbetaR kinase-dependent signaling pathways.
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| Carroll M, Tomasson MH, Barker GF, Golub TR, Gilliland DG.
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| Proc Natl Acad Sci U S A 93(25):14845-50. 1996
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| 43 | APBB1, APBB2, APBB3, MAGI1, BAIAP2, NEDD4, PDGFRB, PIN1
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| Characterization of a novel protein-binding module--the WW domain.
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| Sudol M, Chen HI, Bougeret C, Einbond A, Bork P.
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| FEBS Lett 369(1):67-71. Review. 1995
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| 44 | ETV6, PDGFRB
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| Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.
|
| Golub TR, Barker GF, Lovett M, Gilliland DG.
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| Cell 77(2):307-16. 1994
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| 45 | PDGFRB
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| Dinucleotide repeat polymorphism at the human PDGF RB gene.
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| Yaraghi Z, Kang X, Ikeda JE, MacKenzie A.
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| Hum Mol Genet 3(11):2082. 1994
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| 46 | PDGFRA, PDGFRB
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| Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes.
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| Matsui T, Heidaran M, Miki T, Popescu N, La Rochelle W, Kraus M, Pierce J, Aaronson S.
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| Science 243(4892):800-4. 1989
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| 47 | CSF1R, PDGFRB
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| Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes.
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| Roberts WM, Look AT, Roussel MF, Sherr CJ.
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| Cell 55(4):655-61. 1988
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| 48 | PDGFRB
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| Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors.
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| Yarden Y, Escobedo JA, Kuang WJ, Yang-Feng TL, Daniel TO, Tremble PM, Chen EY, Ando ME, Harkins RN, Francke U, et al.
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| Nature 323(6085):226-32. 1986
|