1 | DEF6, IMD87
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| DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity
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| Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S.
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| J Allergy Clin Immunol. Feb;147(2):740-743.e9. doi: 10.1016/j.jaci.2020.05.052. Epub 2020 Jun 17. 2021
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2 | DEF6
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| Def6 regulates endogenous type-I interferon responses in osteoblasts and suppresses osteogenesis
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| Deng Z, Ng C, Inoue K, Chen Z, Xia Y, Hu X, Greenblatt M, Pernis A, Zhao B.
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| Elife Dec 29;9:e59659. doi: 10.7554/eLife.59659. 2020
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3 | DEF6
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| High expression levels of DEF6 predicts a poor prognosis for patients with clear cell renal cell carcinoma.
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| Zhu ZP, Lin LR, Lv TD, Xu CR, Cai TY, Lin J.
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| Oncol Rep. Nov;44(5):2056-2066. doi: 10.3892/or.2020.7736. Epub 2020 Aug 18. 2020
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4 | DEF6, SWAP70
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| Control of GM-CSF-Dependent Dendritic Cell Differentiation and Maturation by DEF6 and SWAP-70
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| Popović J, Wellstein I, Pernis A, Jessberger R, Ocańa-Morgner C.
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| J Immunol. Sep 1;205(5):1306-1317. doi: 10.4049/jimmunol.2000020. Epub 2020 Jul 24. 2020
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5 | DEF6, IMD87
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| Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasisv
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| Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.
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| Nat Commun. Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x. Erratum in: Nat Commun. 2019 Oct 2;10(1):4555. 2019
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6 | DEF6, SWAP70
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| Regulation of age-associated B cells by IRF5 in systemic autoimmunity.
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| Manni M, Gupta S, Ricker E, Chinenov Y, Park SH, Shi M, Pannellini T, Jessberger R, Ivashkiv LB, Pernis AB.
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| Nat Immunol. Apr;19(4):407-419. doi: 10.1038/s41590-018-0056-8. Epub 2018 Feb 26. 2018
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7 | DEF6
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| Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption.
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| Binder N, Miller C, Yoshida M, Inoue K, Nakano S, Hu X, Ivashkiv LB, Schett G, Pernis A, Goldring SR, Ross FP, Zhao B.
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| J Immunol. May 1;198(9):3436-3447. doi: 10.4049/jimmunol.1601716. Epub 2017 Mar 17. 2017
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8 | DEF6, SWAP70
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| SWEF Proteins Distinctly Control Maintenance and Differentiation of Hematopoietic Stem Cells
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| Ripich T, Chacón-Martínez CA, Fischer L, Pernis A, Kiessling N, Garbe AI, Jessberger R.
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| PLoS One Aug 25;11(8):e0161060. doi: 10.1371/journal.pone.0161060. 2016
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9 | DEF6, ITK
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| DEF6, a novel substrate for the Tec kinase ITK, contains a glutamine-rich aggregation-prone region and forms cytoplasmic granules that co-localize with P-bodies.
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| Hey F, Czyzewicz N, Jones P, Sablitzky F.
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| J Biol Chem 287(37):31073-84. doi: 10.1074/jbc.M112.346767. Epub 2012 Jul 24.
2012
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10 | DEF6, ITK
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| Itk controls the spatiotemporal organization of T cell activation.
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| Singleton KL, Gosh M, Dandekar RD, Au-Yeung BB, Ksionda O, Tybulewicz VL, Altman A, Fowell DJ, Wülfing C.
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| Sci Signal 4(193):ra66. doi: 10.1126/scisignal.2001821.
2011
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11 | DEF6
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| Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system.
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| Gupta,S., Lee,A., Hu,C., Fanzo,J., Goldberg,I., Cattoretti,G. and Pernis,A.B.
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| Hum. Immunol. In press 2003
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