| 1 | KIT, SH3BP2
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| The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival.
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| Ainsua-Enrich E, Serrano-Candelas E, Álvarez-Errico D, Picado C, Sayós J, Rivera J, Martín M.
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| J Immunol 194(9):4309-18. doi: 10.4049/jimmunol.1402887. Epub 2015 Mar 25.
2015
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| 2 | CRBM, SH3BP2
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| Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism.
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| Yoshitaka T, Mukai T, Kittaka M, Alford LM, Masrani S, Ishida S, Yamaguchi K, Yamada M, Mizuno N, Olsen BR, Reichenberger EJ, Ueki Y.
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| Cell Rep 8(6):1752-66. doi: 10.1016/j.celrep.2014.08.023. Epub 2014 Sep 15.
2014
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| 3 | SH3BP2
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| SH3BP2 gain-of-function mutation exacerbates inflammation and bone loss in a murine collagen-induced arthritis model.
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| Mukai T, Gallant R, Ishida S, Yoshitaka T, Kittaka M, Nishida K, Fox DA, Morita Y, Ueki Y.
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| PLoS One 9(8):e105518. doi: 10.1371/journal.pone.0105518. eCollection 2014.
2014
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| 4 | SH3BP2
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| SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.
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| Mukai T, Ishida S, Ishikawa R, Yoshitaka T, Kittaka M, Gallant R, Lin YL, Rottapel R, Brotto M, Reichenberger EJ, Ueki Y.
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| J Bone Miner Res 29(12):2618-35. doi: 10.1002/jbmr.2295.
2014
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| 5 | SH3BP2
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| The adaptor 3BP2 is required for early and late events in FcεRI signaling in human mast cells.
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| Ainsua-Enrich E, Alvarez-Errico D, Gilfillan AM, Picado C, Sayós J, Rivera J, Martín M.
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| J Immunol 189(6):2727-34. doi: 10.4049/jimmunol.1200380. Epub 2012 Aug 15.
2012
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| 6 | PARP1, SH3BP2
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| Cloning and characterization of the human SH3BP2 promoter.
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| Fan C, Gaivin RJ, Marth TA, Willard B, Levine MA, Lietman SA.
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| Biochem Biophys Res Commun 425(1):25-32. doi: 10.1016/j.bbrc.2012.07.043. Epub 2012 Jul 17.
2012
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| 7 | SH3BP2
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| The 3BP2 adapter protein is required for chemoattractant-mediated neutrophil activation.
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| Chen G, Dimitriou I, Milne L, Lang KS, Lang PA, Fine N, Ohashi PS, Kubes P, Rottapel R.
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| J Immunol 189(5):2138-50. doi: 10.4049/jimmunol.1103184. Epub 2012 Jul 18.
2012
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| 8 | ADD1, FAM193A, GRK4, MFSD10, NOP14, SH3BP2, TNIP2
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| A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome
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| Hannes F, Hammond P, Quarrell O, Fryns JP, Devriendt K, Vermeesch JR.
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| Am J Med Genet A May;158A(5):996-1004. doi: 10.1002/ajmg.a.35299. Epub 2012 Mar 21. 2012
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| 9 | PTPN6, SH3BP2
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| Association of 3BP2 with SHP-1 regulates SHP-1-mediated production of TNF-α in RBL-2H3 cells.
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| Chihara K, Nakashima K, Takeuchi K, Sada K.
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| Genes Cells 16(12):1133-45. doi: 10.1111/j.1365-2443.2011.01557.x. Epub 2011 Nov 13.
2011
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| 10 | CRBM, RNF146, SH3BP2, TNKS, TNKS2
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| Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism.
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| Levaot N, Voytyuk O, Dimitriou I, Sircoulomb F, Chandrakumar A, Deckert M, Krzyzanowski PM, Scotter A, Gu S, Janmohamed S, Cong F, Simoncic PD, Ueki Y, La Rose J, Rottapel R.
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| Cell 147(6):1324-39. doi: 10.1016/j.cell.2011.10.045.
2011
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| 11 | SH3BP2
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| 3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions.
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| Levaot N, Simoncic PD, Dimitriou ID, Scotter A, La Rose J, Ng AH, Willett TL, Wang CJ, Janmohamed S, Grynpas M, Reichenberger E, Rottapel R.
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| J Clin Invest 121(8):3244-57. doi: 10.1172/JCI45843. Epub 2011 Jul 18.
2011
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| 12 | SH3BP2
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| Decreased SH3BP2 inhibits osteoclast differentiation and function.
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| Kawamoto T, Fan C, Gaivin RJ, Levine MA, Lietman SA.
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| J Orthop Res 29(10):1521-7. doi: 10.1002/jor.21408. Epub 2011 Mar 29.
2011
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| 13 | SH3BP2
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| Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function.
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| Mukherjee PM, Wang CJ, Chen IP, Jafarov T, Olsen BR, Ueki Y, Reichenberger EJ.
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| Am J Orthod Dentofacial Orthop 138(2):140.e1-140.e11; discussion 140-1. doi: 10.1016/j.ajodo.2009.05.021.
2010
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| 14 | NFATC1, SH3BP2
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| Tyrosine phosphorylation of 3BP2 regulates B cell receptor-mediated activation of NFAT.
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| Shukla U, Hatani T, Nakashima K, Ogi K, Sada K.
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| J Biol Chem 284(49):33719-28. doi: 10.1074/jbc.M109.049999. Epub 2009 Oct 15.
2009
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| 15 | CRBM, SH3BP2
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| Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism.
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| Carvalho VM, Perdigão PF, Amaral FR, de Souza PE, De Marco L, Gomez RS.
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| Oral Dis 15(1):106-10. doi: 10.1111/j.1601-0825.2008.01499.x. Epub 2008 Nov 11.
2009
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| 16 | SH3BP2, CRBM
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| SH3BP2 is an activator of NFAT activity and osteoclastogenesis.
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| Lietman SA, Yin L, Levine MA.
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| Biochem Biophys Res Commun 371(4):644-8. Epub 2008 Apr 25. 2008
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| 17 | DBNL, SH3BP2
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| Abl-SH3 binding protein 2, 3BP2, interacts with CIN85 and HIP-55.
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| Le Bras S, Moon C, Foucault I, Breittmayer JP, Deckert M.
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| FEBS Lett 581(5):967-74. Epub 2007 Feb 8.
2007
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| 18 | CRBM, SH3BP2
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| Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
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| Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS.
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| Am J Med Genet 121A(1):37-40. 2003
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| 19 | CRBM, SH3BP2
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| Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
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| Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E.
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| Nat Genet 28(2):125-6. 2001
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| 20 | CRBM, SH3BP2
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| The Gene for Cherubism Maps to Chromosome 4p16.
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| Tiziani V, et al.
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| Am J Hum Genet 65(1):158-166. 1999
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| 21 | CRBM, SH3BP2
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| The gene for cherubism maps to chromosome 4p16.3.
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| Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, Sigurdsson A, Townend JV, Fitzpatrick DR, Flanagan AM, Stratton MR.
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| Am J Hum Genet 65(1):151-7. 1999
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| 22 | C4orf10, FAM193A, NOP14, RNF4, SH3BP2
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| The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3.
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| Hadano S, Ishida Y, Ikeda JE.
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| DNA Res 5(3):177-86. 1998
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| 23 | SH3BP2
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| Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in Bladder cancer.
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| Bell SM, Shaw M, Jou YS, Myers RM, Knowles MA.
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| Genomics 44(2):163-70. 1997
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| 24 | ADD1, HGFAC, LRPAP1, SH3BP2
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| Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.
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| Pribill I, Barnes GT, Chen J, Church D, Buckler A, Baxendale S, Bates GP, Lehrach H, Gusella MJ, Duyao MP, Ambrose CM, Gusella JF, MacDonald ME.
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| Somat Cell Mol Genet 23 : 413-427. 1997
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| 25 | LRPAP1, SH3BP2
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| Localization of the alpha2-macroglobulin receptor-associated protein 1 gene (LRPAP1) and other gene fragments to human chromosome 4p16.3 by direct cDNA selection.
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| Jou YS, et al.
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| Genomics 24 : 410-413. 1994
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