1 | FCGR3A, PRF1
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| High levels of FCγR3A and PRF1 expression in peripheral blood mononuclear cells from patients with primary biliary cirrhosis.
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| Li S, Ma D, Zhang L, Li X, Deng C, Qin X, Zhang T, Wang L, Shi Q, Wang Q, Wu Q, Zhang X, Zhang F, Li Y.
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| Dig Dis Sci 58(2):458-64. doi: 10.1007/s10620-012-2456-1. Epub 2012 Nov 23.
2013
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2 | PRF1
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| Human perforin employs different avenues to damage membranes.
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| Praper T, Sonnen A, Viero G, Kladnik A, Froelich CJ, Anderluh G, Dalla Serra M, Gilbert RJ.
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| J Biol Chem 286(4):2946-55. Epub 2010 Oct 2.
2011
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3 | HPLH2, PRF1
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| Perforin is a critical physiologic regulator of T-cell activation.
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| Lykens JE, Terrell CE, Zoller EE, Risma K, Jordan MB.
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| Blood 118(3):618-26. Epub 2011 May 23.
2011
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4 | PRF1
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| Perforin rapidly induces plasma membrane phospholipid flip-flop.
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| Metkar SS, Wang B, Catalan E, Anderluh G, Gilbert RJ, Pardo J, Froelich CJ.
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| PLoS One 6(9):e24286. Epub 2011 Sep 12.
2011
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5 | PRF1
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| Protection from endogenous perforin: glycans and the C terminus regulate exocytic trafficking in cytotoxic lymphocytes.
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| Brennan AJ, Chia J, Browne KA, Ciccone A, Ellis S, Lopez JA, Susanto O, Verschoor S, Yagita H, Whisstock JC, Trapani JA, Voskoboinik I.
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| Immunity 34(6):879-92. Epub 2011 Jun 9.
2011
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6 | HPLH2, HPLH3, HPLH5, PRF1, STXBP2, UNC13D
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| Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
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| Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH.
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| Blood 118(22):5794-8. doi: 10.1182/blood-2011-07-370148. Epub 2011 Aug 31. 2011
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7 | PRF1
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| The structural basis for membrane binding and pore formation by lymphocyte perforin.
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| Law RH, Lukoyanova N, Voskoboinik I, Caradoc-Davies TT, Baran K, Dunstone MA, D'Angelo ME, Orlova EV, Coulibaly F, Verschoor S, Browne KA, Ciccone A, Kuiper MJ, Bird PI, Trapani JA, Saibil HR, Whisstock JC.
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| Nature 468(7322):447-51. Epub 2010 Oct 31.
2010
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8 | PRF1
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| Human perforin permeabilizing activity, but not binding to lipid membranes, is affected by pH.
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| Praper T, Besenicar MP, Istinic H, Podlesek Z, Metkar SS, Froelich CJ, Anderluh G.
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| Mol Immunol 47(15):2492-504. Epub 2010 Jun 26.
2010
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9 | PRF1
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| Perforin level in CD4+ T cells from patients with systemic lupus erythematosus.
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| Kozłowska A, Hrycaj P, Łącki JK, Jagodziński PP.
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| Rheumatol Int 30(12):1627-33. Epub 2010 Jan 5.
2010
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10 | PRF1
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| Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.
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| Urrea Moreno R, Gil J, Rodriguez-Sainz C, Cela E, LaFay V, Oloizia B, Herr AB, Sumegi J, Jordan MB, Risma KA.
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| Blood 113(2):338-46. Epub 2008 Oct 16.
2009
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11 | PRF1
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| DNA demethylation of the perforin promoter in CD4(+) T cells from patients with subacute cutaneous lupus erythematosus.
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| Luo Y, Zhang X, Zhao M, Lu Q.
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| J Dermatol Sci 56(1):33-6. Epub 2009 Aug 3.
2009
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12 | PRF1
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| Novel function of perforin in negatively regulating CD4(+) T cell activation by affecting calcium signaling.
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| Bi E, Huang C, Hu Y, Wu X, Deng W, Lin G, Liu Z, Tian L, Sun S, Mao K, Zou J, Zheng Y, Sun B.
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| Cell Res 19(7):816-27.
2009
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13 | PRF1, HPLH2
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| Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
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| Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aric˜ M; Histiocyte Society HLH Study group.
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| J Med Genet 45(1):15-21. Epub 2007 Sep 14. 2008
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14 | CX3CR1, GZMB, IGFBP7, IL2RB, KIR3DL2, PAM, PRF1, S1PR5, SH2D1B, SPON2, ZBTB16
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| Gene expression changes in children with autism.
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| Gregg JP, Lit L, Baron CA, Hertz-Picciotto I, Walker W, Davis RA, Croen LA, Ozonoff S, Hansen R, Pessah IN, Sharp FR.
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| Genomics 91(1):22-9. Epub 2007 Nov 14. 2008
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15 | HPLH2, HPLH3, HPLH4, PRF1, STX11, UNC13D
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| Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
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| Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI.
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| Br J Haematol 143(1):75-83. Epub 2008 Aug 15.
2008
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16 | PRF1
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| Variations of the perforin gene in patients with multiple sclerosis.
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| Cappellano G, Orilieri E, Comi C, Chiocchetti A, Bocca S, Boggio E, Bernardone IS, Cometa A, Clementi R, Barizzone N, D'Alfonso S, Corrado L, Galimberti D, Scarpini E, Guerini FR, Caputo D, Paolicelli D, Trojano M, Figà-Talamanca L, Salvetti M, Perla F, Leone M, Monaco F, Dianzani U.
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| Genes Immun 9(5):438-44. Epub 2008 May 22.
2008
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17 | HPLH2, PRF1
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| Perforin gene mutations in patients with acquired aplastic anemia.
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| Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS.
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| Blood 109(12):5234-7. Epub 2007 Feb 20. 2007
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18 | PRF1
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| Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function.
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| Voskoboinik I, Sutton VR, Ciccone A, House CM, Chia J, Darcy PK, Yagita H, Trapani JA.
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| Blood 110(4):1184-90. Epub 2007 May 2.
2007
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19 | HPLH2, PRF1
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| Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
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| Nagafuji K, Nonami A, Kumano T, Kikushige Y, Yoshimoto G, Takenaka K, Shimoda K, Ohga S, Yasukawa M, Horiuchi H, Ishii E, Harada M.
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| Haematologica 92(7):978-81.
2007
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20 | PRF1, HPLH2, UNC13D, HPLH3, RAB27A, VCIPD2, STX11, HPLH4
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| Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
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| Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC.
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| Hum Mutat 27(1):62-8. 2006
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21 | PRF1, HPLH2
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| An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression.
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| Muralitharan S, Al Lamki Z, Dennison D, Christie BS, Wali YA, Zachariah M, Romana M, Bayoumi R, Krishnamoorthy R.
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| Am J Hematol 78(1):59-63. 2005
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22 | PRF1, HPLH2
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| Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
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| Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH.
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| J Med Genet 41(2):137-44. No abstract available. 2004
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23 | PRF1, PTPRC
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| Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.
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| McCormick J, Flower DR, Strobel S, Wallace DL, Beverley PC, Tchilian EZ.
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| Am J Med Genet 117A(3):255-60. 2003
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24 | PRF1
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| DNA methylation and chromatin structure regulate T cell perforin gene expression.
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| Lu Q, Wu A, Ray D, Deng C, Attwood J, Hanash S, Pipkin M, Lichtenheld M, Richardson B.
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| J Immunol 170(10):5124-32. 2003
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25 | PRF1, HPLH2
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| Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
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| Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, Ohshima K, Hara T.
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| Br J Haematol 116(2):346-9. 2002
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26 | PRF1, STAT4
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| The human perforin gene is a direct target of STAT4 activated by IL-12 in NK cells.
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| Yamamoto K, Shibata F, Miyasaka N, Miura O.
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| Biochem Biophys Res Commun 297(5):1245-52. 2002
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27 | HPLH2, PRF1
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| Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
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| Goransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Soderhall C, Samuelsson A, Janka G, Schneider M, Gurgey A, Yalman N, Revesz T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjold M, Henter J.
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| Am J Hum Genet 68(3):590-7. 2001
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28 | HPLH2, PRF1
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| Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
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| Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Arico M.
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| J Med Genet 38(9):643-6. No abstract available. 2001
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29 | HPLH2, PRF1
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| Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
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| Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V.
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| Science 286(5446):1957-9. 1999
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30 | PRF1
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| Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10.
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| Fink TM, et al.
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| Genomics 13 : 1300-1302. 1992
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31 | PRF1
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| Molecular cloning and chromosomal assignment of a human perforin (PFP) gene.
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| Shinkai Y, et al.
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| Immunogenetics 30 : 452-457. 1989
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