| 1 | LYP, SH2D1A
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| Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.
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| Liu J, Tian W, Wang F, Teng W, Zhang Y, Tong C, Zhang C, Ju Y, Zhang B, Zhao S, Liu H.
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| Mol Med Rep 11(5):3291-4. doi: 10.3892/mmr.2015.3173. Epub 2015 Jan 9.
2015
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| 2 | LCK, SH2D1A, SLAMF6
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| SAP facilitates recruitment and activation of LCK at NTB-A receptors during restimulation-induced cell death.
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| Katz G, Krummey SM, Larsen SE, Stinson JR, Snow AL.
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| J Immunol 192(9):4202-9. doi: 10.4049/jimmunol.1303070. Epub 2014 Mar 31.
2014
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| 3 | CD84, SH2D1A, SLAMF1, SLAMF6, SLAMF7, SLAMF8
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| Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance.
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| Menard L, Cantaert T, Chamberlain N, Tangye SG, Riminton S, Church JA, Klion A, Cunningham-Rundles C, Nichols KE, Meffre E.
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| J Allergy Clin Immunol 133(4):1149-61. doi: 10.1016/j.jaci.2013.10.051. Epub 2013 Dec 25.
2014
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| 4 | LYP, SH2D1A
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| Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.
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| Tóth B, Soltész B, Gyimesi E, Csorba G, Veres A, Lányi A, Kovács G, Maródi L, Erdős M.
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| J Clin Immunol Clin Immunol. 2014 Dec 10. [Epub ahead of print]
2014
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| 5 | SH2D1A
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| The adaptor protein SAP regulates type II NKT-cell development, cytokine production, and cytotoxicity against lymphoma.
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| Weng X, Liao CM, Bagchi S, Cardell SL, Stein PL, Wang CR.
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| Eur J Immunol 44(12):3646-57. doi: 10.1002/eji.201444848. Epub 2014 Oct 28.
2014
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| 6 | SH2D1A, XLP
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| XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP.
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| Tangye SG.
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| J Clin Immunol 34(7):772-9. doi: 10.1007/s10875-014-0083-7. Epub 2014 Aug 2. Review.
2014
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| 7 | PECAM1, SH2D1A
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| The adaptor protein SAP directly associates with PECAM-1 and regulates PECAM-1-mediated-cell adhesion in T-like cell lines.
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| Proust R, Crouin C, Gandji LY, Bertoglio J, Gesbert F.
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| Mol Immunol 58(2):206-13. doi: 10.1016/j.molimm.2013.12.002. Epub 2014 Jan 1.
2014
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| 8 | FYN, SH2D1A
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| The adaptor molecule signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) is essential in mechanisms involving the Fyn tyrosine kinase for induction and progression of collagen-induced arthritis.
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| Zhong MC, Veillette A.
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| J Biol Chem 288(44):31423-36. doi: 10.1074/jbc.M113.473736. Epub 2013 Sep 17.
2013
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| 9 | SH2D1A
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| Association of a single nucleotide polymorphism in the SH2D1A intronic region with systemic lupus erythematosus.
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| Furukawa H, Kawasaki A, Oka S, Shimada K, Matsui T, Ikenaka T, Hashimoto A, Okazaki Y, Takaoka H, Futami H, Komiya A, Kondo Y, Ito S, Hayashi T, Matsumoto I, Kusaoi M, Takasaki Y, Nagai T, Hirohata S, Setoguchi K, Suda A, Nagaoka S, Kono H, Okamoto A, Chiba N, Suematsu E, Fukui N, Hashimoto H, Sumida T, Ono M, Tsuchiya N, Tohma S.
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| Lupus 22(5):497-503. doi: 10.1177/0961203313479421.
2013
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| 10 | SH2D1A
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| The adaptor molecule SAP plays essential roles during invariant NKT cell cytotoxicity and lytic synapse formation.
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| Das R, Bassiri H, Guan P, Wiener S, Banerjee PP, Zhong MC, Veillette A, Orange JS, Nichols KE.
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| Blood 121(17):3386-95. doi: 10.1182/blood-2012-11-468868. Epub 2013 Feb 21.
2013
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| 11 | SH2D1A
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| Critical role of SAP in progression and reactivation but not maintenance of T cell-dependent humoral immunity.
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| Zhong MC, Veillette A.
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| Mol Cell Biol 33(6):1223-32. doi: 10.1128/MCB.01591-12. Epub 2013 Jan 14.
2013
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| 12 | SH2D1A, SLAMF6
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| The receptor Ly108 functions as a SAP adaptor-dependent on-off switch for T cell help to B cells and NKT cell development.
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| Kageyama R, Cannons JL, Zhao F, Yusuf I, Lao C, Locci M, Schwartzberg PL, Crotty S.
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| Immunity 36(6):986-1002. doi: 10.1016/j.immuni.2012.05.016. Epub 2012 Jun 7.
2012
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| 13 | SH2D1A, TP53
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| p53 contributes to T cell homeostasis through the induction of pro-apoptotic SAP.
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| Madapura HS, Salamon D, Wiman KG, Lain S, Klein G, Klein E, Nagy N.
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| Cell Cycle 11(24):4563-9. doi: 10.4161/cc.22810. Epub 2012 Nov 19.
2012
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| 14 | LYP, SH2D1A
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| Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
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| Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K, Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z.
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| Pediatrics 129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23.
2012
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| 15 | LYP, SH2D1A
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| X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
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| Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnick-Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB.
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| Blood 117(1):53-62. Epub 2010 Oct 6. 2011
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| 16 | LYP, SH2D1A, XIAP, XLP2
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| Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
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| Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S.
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| Blood 117(5):1522-9. Epub 2010 Nov 30.
2011
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| 17 | SH2D1A
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| SLAM receptors and SAP influence lymphocyte interactions, development and function.
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| Schwartzberg PL, Mueller KL, Qi H, Cannons JL.
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| Nat Rev Immunol 9(1):39-46. Review.
2009
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| 18 | CD22, SH2D1A
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| SAP binds to CD22 and regulates B cell inhibitory signaling and calcium flux.
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| Ostrakhovitch EA, Wang Y, Li SS.
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| Cell Signal 21(4):540-50. Epub 2008 Dec 24.
2009
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| 19 | LYP, SH2D1A
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| The XLP syndrome protein SAP interacts with SH3 proteins to regulate T cell signaling and proliferation.
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| Li C, Schibli D, Li SS.
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| Cell Signal 21(1):111-9. Epub 2008 Sep 30.PMID: 18951976 2009
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| 20 | LYP, SH2D1A
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| The X-linked lymphoproliferative syndrome gene product SAP regulates B cell function through the FcgammaRIIB receptor.
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| Li C, Chung B, Tao J, Iosef C, Aoukaty A, Wang Y, Tan R, Li SS.
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| Cell Signal 20(11):1960-7. Epub 2008 Jul 6.PMID: 18662772 2008
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| 21 | LYP, SH2D1A
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| SAP expression in T cells, not in B cells, is required for humoral immunity.
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| Veillette A, Zhang S, Shi X, Dong Z, Davidson D, Zhong MC.
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| Proc Natl Acad Sci U S A 105(4):1273-8. Epub 2008 Jan 22.PMID: 18212118 2008
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| 22 | SH2D1A, SLAMF1
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| Consequence of the SLAM-SAP signaling pathway in innate-like and conventional lymphocytes.
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| Veillette A, Dong Z, Latour S.
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| Immunity 27(5):698-710. Review.PMID: 18031694 2007
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| 23 | SH2D1A, ARHGEF6, ARHGEF7
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| The X-linked lymphoproliferative disease gene product SAP associates with PAK-interacting exchange factor and participates in T cell activation.
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| Gu C, Tangye SG, Sun X, Luo Y, Lin Z, Wu J.
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| Proc Natl Acad Sci U S A 103(39):14447-52. Epub 2006 Sep 18. 2006
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| 24 | SH2D1A, LYP, FYN
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| Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.
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| Hare NJ, Ma CS, Alvaro F, Nichols KE, Tangye SG.
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| Int Immunol 18(7):1055-65. Epub 2006 May 23. 2006
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| 25 | SH2D1A, NTRK1, NTRK2, NTRK3
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| SLAM-associated protein as a potential negative regulator in Trk signaling.
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| Lo KY, Chin WH, Ng YP, Cheng AW, Cheung ZH, Ip NY.
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| J Biol Chem 280(50):41744-52. Epub 2005 Oct 13. 2005
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| 26 | SLAMF1, SH2D1A
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| The adaptor protein SH2D1A regulates signaling through CD150 (SLAM) in B cells.
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| Mikhalap SV, Shlapatska LM, Yurchenko OV, Yurchenko MY, Berdova GG, Nichols KE, Clark EA, Sidorenko SP.
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| Blood 104(13):4063-70. Epub 2004 Aug 17. 2004
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| 27 | SH2D1A
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| Association of the X-linked lymphoproliferative disease gene product SAP/SH2D1A with 2B4, a natural killer cell-activating molecule, is dependent on phosphoinositide 3-kinase.
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| Aoukaty A, Tan R.
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| J Biol Chem 277(15):13331-7. 2002
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| 28 | SH2D1A
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| The X-linked lymphoproliferative disease gene product SAP is expressed in activated T and NK cells.
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| Nagy N, Mattsson K, Maeda A, Liu A, Szekely L, Klein E.
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| Immunol Lett 82(1-2):141-7. 2002
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| 29 | SH2D1A, LYP
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| Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
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| Parolini O, Kagerbauer B, Simonitsch-Klupp I, Ambros P, Jaeger U, Mann G, Haas OA, Morra M, Gadner H, Terhorst C, Knapp W, Holter W.
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| Ann Hematol 81(8):441-7. Epub 2002 Jul 20. 2002
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| 30 | SH2D1A
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| Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.
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| Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C.
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| J Biol Chem 276(39):36809-16. 2001
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| 31 | LYP, SH2D1A
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| Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
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| Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, Danesino C, Haber DA, Nichols KE.
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| Blood 97(4):1131-3. 2001
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| 32 | SH2D1A, SLAMF1
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| Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
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| Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M.
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| Biochem Biophys Res Commun 269(1):124-30. 2000
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| 33 | LYP, SH2D1A
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| Large deletion of the X-linked lymphoproliferative disease gene detected by fluorescence in situ hybridization.
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| Honda K, Kanegane H, Eguchi M, Kimura H, Morishima T, Masaki K, Tosato G, Miyawaki T, Ishii E.
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| Am J Hematol 64(2):128-32. 2000
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| 34 | DOK1, SH2D1A
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| The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B.
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| Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E.
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| Proc Natl Acad Sci U S A 97(13):7470-5. 2000
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| 35 | LYP, SH2D1A
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| Epstein-barr virus-negative boys with non-hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease.
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| Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A.
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| Hum Mol Genet 8(13):2407-13 1999
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| 36 | LYP, SH2D1A
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| SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
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| Yin L, Ferrand V, Lavoue MF, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla BS, Romeo G.
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| Hum Genet 105(5):501-5 1999
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| 37 | SH2D1A
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| Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition.
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| Poy F, Yaffe MB, Sayos J, Saxena K, Morra M, Sumegi J, Cantley LC, Terhorst C, Eck MJ.
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| Mol Cell 4(4):555-61. 1999
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| 38 | LYP, SH2D1A
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| The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
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| Sayos J, et al.
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| Nature 395 : 462-469. 1998
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| 39 | LYP, SH2D1A
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| Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
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| Nichols KE, et al.
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| Proc Natl Acad Sci U S A 95 : 13765-13770. 1998
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| 40 | SH2D1A
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| DSHP : a power bar for sustained immune responses?
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| Satterthwaite AB, Rawlings DJ, Witte ON.
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| Proc Natl Acad Sci U S A 95 : 13355-13357. 1998
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| 41 | LYP, SH2D1A
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| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
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| Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP,Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E,Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, SyllaB, Zollo M, Franco B, Bentley
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| Nat Genet 20(2):129-35. 1998
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| 42 | SH2D1A
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| MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations.
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| Stern MH, Soulier J, Rosenzwajg M, Nakahara K, Canki-Klain N, Aurias A, Sigaux F, Kirsch IR.
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| Oncogene 8(9):2475-83. 1993
|