| | VARIANT: 1493v1 | |
Entry |
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Name |
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Gene |
CTLA4 cytotoxic T-lymphocyte associated protein 4 [KO: K06538]
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
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Disease |
H00080 | Systemic lupus erythematosus |
H00108 | Autoimmune lymphoproliferative syndromes |
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Reference |
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Authors |
Jury EC, Flores-Borja F, Kalsi HS, Lazarus M, Isenberg DA, Mauri C, Ehrenstein MR |
Title |
Abnormal CTLA-4 function in T cells from patients with systemic lupus erythematosus. |
Journal |
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Reference |
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Authors |
Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC |
Title |
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. |
Journal |
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Reference |
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Authors |
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G |
Title |
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. |
Journal |
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LinkDB |
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