SH2D1A

SH2D1A

SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome), also known as SH2D1A, is a human gene.cite web | title = Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4068| accessdate = ]

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References

Further reading

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*cite journal | author=Sumegi J, Seemayer TA, Huang D, "et al." |title=A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses. |journal=Leuk. Lymphoma |volume=43 |issue= 6 |pages= 1189–201 |year= 2003 |pmid= 12152986 |doi=
*cite journal | author=Engel P, Eck MJ, Terhorst C |title=The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. |journal=Nat. Rev. Immunol. |volume=3 |issue= 10 |pages= 813–21 |year= 2003 |pmid= 14523387 |doi= 10.1038/nri1202
*cite journal | author=Stern MH, Soulier J, Rosenzwajg M, "et al." |title=MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations. |journal=Oncogene |volume=8 |issue= 9 |pages= 2475–83 |year= 1993 |pmid= 8361760 |doi=
*cite journal | author=Skare J, Wu BL, Madan S, "et al." |title=Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. |journal=Genomics |volume=16 |issue= 1 |pages= 254–5 |year= 1993 |pmid= 8387453 |doi=
*cite journal | author=Coffey AJ, Brooksbank RA, Brandau O, "et al." |title=Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. |journal=Nat. Genet. |volume=20 |issue= 2 |pages= 129–35 |year= 1998 |pmid= 9771704 |doi= 10.1038/2424
*cite journal | author=Sayos J, Wu C, Morra M, "et al." |title=The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. |journal=Nature |volume=395 |issue= 6701 |pages= 462–9 |year= 1998 |pmid= 9774102 |doi= 10.1038/26683
*cite journal | author=Nichols KE, Harkin DP, Levitz S, "et al." |title=Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 23 |pages= 13765–70 |year= 1998 |pmid= 9811875 |doi=
*cite journal | author=Poy F, Yaffe MB, Sayos J, "et al." |title=Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. |journal=Mol. Cell |volume=4 |issue= 4 |pages= 555–61 |year= 1999 |pmid= 10549287 |doi=
*cite journal | author=Li SC, Gish G, Yang D, "et al." |title=Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A. |journal=Curr. Biol. |volume=9 |issue= 23 |pages= 1355–62 |year= 2000 |pmid= 10607564 |doi=
*cite journal | author=Sylla BS, Murphy K, Cahir-McFarland E, "et al." |title=The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 13 |pages= 7470–5 |year= 2000 |pmid= 10852966 |doi= 10.1073/pnas.130193097
*cite journal | author=Benoit L, Wang X, Pabst HF, "et al." |title=Defective NK cell activation in X-linked lymphoproliferative disease. |journal=J. Immunol. |volume=165 |issue= 7 |pages= 3549–53 |year= 2000 |pmid= 11034354 |doi=
*cite journal | author=Nagy N, Cerboni C, Mattsson K, "et al." |title=SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines. |journal=Int. J. Cancer |volume=88 |issue= 3 |pages= 439–47 |year= 2000 |pmid= 11054674 |doi=
*cite journal | author=Shlapatska LM, Mikhalap SV, Berdova AG, "et al." |title=CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A. |journal=J. Immunol. |volume=166 |issue= 9 |pages= 5480–7 |year= 2001 |pmid= 11313386 |doi=
*cite journal | author=Sayós J, Martín M, Chen A, "et al." |title=Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP. |journal=Blood |volume=97 |issue= 12 |pages= 3867–74 |year= 2001 |pmid= 11389028 |doi=
*cite journal | author=Morra M, Simarro-Grande M, Martin M, "et al." |title=Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. |journal=J. Biol. Chem. |volume=276 |issue= 39 |pages= 36809–16 |year= 2001 |pmid= 11477068 |doi= 10.1074/jbc.M101305200
*cite journal | author=Latour S, Gish G, Helgason CD, "et al." |title=Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product. |journal=Nat. Immunol. |volume=2 |issue= 8 |pages= 681–90 |year= 2001 |pmid= 11477403 |doi= 10.1038/90615
*cite journal | author=Bottino C, Falco M, Parolini S, "et al." |title=NTB-A [correction of GNTB-A] , a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. |journal=J. Exp. Med. |volume=194 |issue= 3 |pages= 235–46 |year= 2001 |pmid= 11489943 |doi=
*cite journal | author=Liu A, Klein G, Bandobashi K, "et al." |title=SH2D1A expression reflects activation of T and NK cells in cord blood lymphocytes infected with EBV and treated with the immunomodulator PSK. |journal=Immunol. Lett. |volume=80 |issue= 3 |pages= 181–8 |year= 2002 |pmid= 11803050 |doi=
*cite journal | author=Howie D, Simarro M, Sayos J, "et al." |title=Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation. |journal=Blood |volume=99 |issue= 3 |pages= 957–65 |year= 2002 |pmid= 11806999 |doi=
*cite journal | author=Aoukaty A, Tan R |title=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. |journal=J. Biol. Chem. |volume=277 |issue= 15 |pages= 13331–7 |year= 2002 |pmid= 11815622 |doi= 10.1074/jbc.M112029200

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  • SH2D1A — Le SH2D1A est un gène localisé sur le chromosome X. Ce gène comprend environ 25 000 paires de base se répartissant en quatre exons. Ce gène code une protéine de 128 acides aminés nommée SAP (signalling lymphocyte activation molecular [SLAM]… …   Wikipédia en Français

  • DOK1 — Docking protein 1, 62kDa (downstream of tyrosine kinase 1) Identifiers Symbols DOK1; MGC117395; MGC138860; P62DOK External IDs …   Wikipedia

  • SLAMF1 — Signaling lymphocytic activation molecule family member 1, also known as SLAMF1, is a human gene.cite web | title = Entrez Gene: SLAMF1 signaling lymphocytic activation molecule family member 1| url =… …   Wikipedia

  • CD244 — Not to be confused with KIR2DL4. CD244 molecule, natural killer cell receptor 2B4 Identifiers Symbols CD244; 2B4; NAIL; NKR2B4; Nmrk; SLAMF4 …   Wikipedia

  • CD84 — (Cluster of Differentiation 84) is a human protein encoded by the gene|CD84 gene.cite web | title = Entrez Gene: CD84 CD84 molecule| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=8832| accessdate = ] PBB… …   Wikipedia

  • SLAMF6 — SLAM family member 6, also known as SLAMF6, is a human gene.cite web | title = Entrez Gene: SLAMF6 SLAM family member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=114836| accessdate = ] PBB Summary… …   Wikipedia

  • X-linked lymphoproliferative disease — Classification and external resources ICD 10 D82.3 OMIM 308240 300635 …   Wikipedia

  • Maladie Lymphoproliférative Liée À L'X — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Maladie lymphoproliferative liee a l'X — Maladie lymphoproliférative liée à l X Maladie lymphoproliférative liée à l X Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Maladie lymphoproliférative liée à l'X — Référence MIM 308240 Transmission Récessive à l X Chromosome Xq25 Gène SH2D1A Empreinte parentale …   Wikipédia en Français

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