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Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1
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35 Vogel, A., Liermann, H., Harms, A., Strassburg, C.P., Manns, M.P., Obermayer-Straub, P., Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Hepatology 33 (2001), 1047–1052.
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Hepatology
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, pp. 1047-1052
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Vogel, A.1
Liermann, H.2
Harms, A.3
Strassburg, C.P.4
Manns, M.P.5
Obermayer-Straub, P.6
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36
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84937598338
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Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases
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This study reports families with mono-allelic mutations in the first plant homeodomain (PHD1) finger of AIRE which suppress gene expression of wild-type AIRE in a dominant-negative manner.
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36•• Oftedal, B.E., Hellesen, A., Erichsen, M.M., Bratland, E., Vardi, A., Perheentupa, J., Kemp, E.H., Fiskerstrand, T., Viken, M.K., Weetman, A.P., et al. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity 42 (2015), 1185–1196 This study reports families with mono-allelic mutations in the first plant homeodomain (PHD1) finger of AIRE which suppress gene expression of wild-type AIRE in a dominant-negative manner.
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(2015)
Immunity
, vol.42
, pp. 1185-1196
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Oftedal, B.E.1
Hellesen, A.2
Erichsen, M.M.3
Bratland, E.4
Vardi, A.5
Perheentupa, J.6
Kemp, E.H.7
Fiskerstrand, T.8
Viken, M.K.9
Weetman, A.P.10
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37
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40549116395
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AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I
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37 Boe Wolff, A.S., Oftedal, B., Johansson, S., Bruland, O., Lovas, K., Meager, A., Pedersen, C., Husebye, E.S., Knappskog, P.M., AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes Immun 9 (2008), 130–136.
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(2008)
Genes Immun
, vol.9
, pp. 130-136
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Boe Wolff, A.S.1
Oftedal, B.2
Johansson, S.3
Bruland, O.4
Lovas, K.5
Meager, A.6
Pedersen, C.7
Husebye, E.S.8
Knappskog, P.M.9
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38
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0034861436
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Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED
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38 Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, P., Tawfik, S., et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 18 (2001), 225–232.
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(2001)
Hum Mutat
, vol.18
, pp. 225-232
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Cihakova, D.1
Trebusak, K.2
Heino, M.3
Fadeyev, V.4
Tiulpakov, A.5
Battelino, T.6
Tar, A.7
Halasz, Z.8
Blumel, P.9
Tawfik, S.10
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39
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56749169403
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Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1
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39 Podkrajsek, K.T., Milenkovic, T., Odink, R.J., Claasen-van der Grinten, H.L., Bratanic, N., Hovnik, T., Battelino, T., Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. Eur J Endocrinol 159 (2008), 633–639.
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(2008)
Eur J Endocrinol
, vol.159
, pp. 633-639
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Podkrajsek, K.T.1
Milenkovic, T.2
Odink, R.J.3
Claasen-van der Grinten, H.L.4
Bratanic, N.5
Hovnik, T.6
Battelino, T.7
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40
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84903790445
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New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1
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40 Mora, M., Hanzu, F.A., Pradas-Juni, M., Aranda, G.B., Halperin, I., Puig-Domingo, M., Aguilo, S., Fernandez-Rebollo, E., New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. PLOS ONE, 9, 2014, e101616.
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(2014)
PLOS ONE
, vol.9
, pp. e101616
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Mora, M.1
Hanzu, F.A.2
Pradas-Juni, M.3
Aranda, G.B.4
Halperin, I.5
Puig-Domingo, M.6
Aguilo, S.7
Fernandez-Rebollo, E.8
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41
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84872192656
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A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1
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41 Zhang, J., Liu, H., Liu, Z., Liao, Y., Guo, L., Wang, H., He, L., Zhang, X., Xing, Q., A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. PLOS ONE, 8, 2013, e53981.
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(2013)
PLOS ONE
, vol.8
, pp. e53981
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Zhang, J.1
Liu, H.2
Liu, Z.3
Liao, Y.4
Guo, L.5
Wang, H.6
He, L.7
Zhang, X.8
Xing, Q.9
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42
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84929377689
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The AIRE −230Y polymorphism affects AIRE transcriptional activity: potential influence on AIRE function in the thymus
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This study describes two single nuclear polymorphisms in the promotor region of AIRE showing difference on luciferase activity using different AIRE promotor reporter constructs.
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42• Lovewell, T.R., McDonagh, A.J., Messenger, A.G., Azzouz, M., Tazi-Ahnini, R., The AIRE −230Y polymorphism affects AIRE transcriptional activity: potential influence on AIRE function in the thymus. PLOS ONE, 10, 2015, e0127476 This study describes two single nuclear polymorphisms in the promotor region of AIRE showing difference on luciferase activity using different AIRE promotor reporter constructs.
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(2015)
PLOS ONE
, vol.10
, pp. e0127476
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Lovewell, T.R.1
McDonagh, A.J.2
Messenger, A.G.3
Azzouz, M.4
Tazi-Ahnini, R.5
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43
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84961281515
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Identification of a novel cis-regulatory element essential for immune tolerance
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In this study, the authors used transgenic mice for the identification of a NFKB-responsive element which seems essential for Aire expression.
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43• LaFlam, T.N., Seumois, G., Miller, C.N., Lwin, W., Fasano, K.J., Waterfield, M., Proekt, I., Vijayanand, P., Anderson, M.S., Identification of a novel cis-regulatory element essential for immune tolerance. J Exp Med 212 (2015), 1993–2002 In this study, the authors used transgenic mice for the identification of a NFKB-responsive element which seems essential for Aire expression.
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(2015)
J Exp Med
, vol.212
, pp. 1993-2002
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LaFlam, T.N.1
Seumois, G.2
Miller, C.N.3
Lwin, W.4
Fasano, K.J.5
Waterfield, M.6
Proekt, I.7
Vijayanand, P.8
Anderson, M.S.9
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44
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7244227646
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Gene dosage — limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity
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44 Liston, A., Gray, D.H., Lesage, S., Fletcher, A.L., Wilson, J., Webster, K.E., Scott, H.S., Boyd, R.L., Peltonen, L., Goodnow, C.C., Gene dosage — limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity. J Exp Med 200 (2004), 1015–1026.
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(2004)
J Exp Med
, vol.200
, pp. 1015-1026
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Liston, A.1
Gray, D.H.2
Lesage, S.3
Fletcher, A.L.4
Wilson, J.5
Webster, K.E.6
Scott, H.S.7
Boyd, R.L.8
Peltonen, L.9
Goodnow, C.C.10
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45
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84900829275
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Autoimmune regulator expression in thymomas with or without autoimmune disease
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45 Liu, Y., Zhang, H., Zhang, P., Meng, F., Chen, Y., Wang, Y., Yao, Y., Qi, B., Autoimmune regulator expression in thymomas with or without autoimmune disease. Immunol Lett 161 (2014), 50–56.
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(2014)
Immunol Lett
, vol.161
, pp. 50-56
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Liu, Y.1
Zhang, H.2
Zhang, P.3
Meng, F.4
Chen, Y.5
Wang, Y.6
Yao, Y.7
Qi, B.8
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46
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84907481828
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Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors
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46 Wolff, A.S., Karner, J., Owe, J.F., Oftedal, B.E., Gilhus, N.E., Erichsen, M.M., Kampe, O., Meager, A., Peterson, P., Kisand, K., et al. Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors. J Immunol 193 (2014), 3880–3890.
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J Immunol
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, pp. 3880-3890
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Wolff, A.S.1
Karner, J.2
Owe, J.F.3
Oftedal, B.E.4
Gilhus, N.E.5
Erichsen, M.M.6
Kampe, O.7
Meager, A.8
Peterson, P.9
Kisand, K.10
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47
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70449732278
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Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells
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47 Somech, R., Simon, A.J., Lev, A., Dalal, I., Spirer, Z., Goldstein, I., Nagar, M., Amariglio, N., Rechavi, G., Roifman, C.M., Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. J Allergy Clin Immunol 124 (2009), 793–800.
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J Allergy Clin Immunol
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, pp. 793-800
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Somech, R.1
Simon, A.J.2
Lev, A.3
Dalal, I.4
Spirer, Z.5
Goldstein, I.6
Nagar, M.7
Amariglio, N.8
Rechavi, G.9
Roifman, C.M.10
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48
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20044376279
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AIRE deficiency in thymus of 2 patients with Omenn syndrome
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48 Cavadini, P., Vermi, W., Facchetti, F., Fontana, S., Nagafuchi, S., Mazzolari, E., Sediva, A., Marrella, V., Villa, A., Fischer, A., et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 115 (2005), 728–732.
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J Clin Invest
, vol.115
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Cavadini, P.1
Vermi, W.2
Facchetti, F.3
Fontana, S.4
Nagafuchi, S.5
Mazzolari, E.6
Sediva, A.7
Marrella, V.8
Villa, A.9
Fischer, A.10
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49
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84946781804
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Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
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49 Walter, J.E., Rosen, L.B., Csomos, K., Rosenberg, J.M., Mathew, D., Keszei, M., Ujhazi, B., Chen, K., Lee, Y.N., Tirosh, I., et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest, 2015.
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J Clin Invest
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Walter, J.E.1
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Csomos, K.3
Rosenberg, J.M.4
Mathew, D.5
Keszei, M.6
Ujhazi, B.7
Chen, K.8
Lee, Y.N.9
Tirosh, I.10
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50
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85017227463
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22q11.2 deletion syndrome
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50 McDonald-McGinn, D.M., Sullivan, K.E., Marino, B., Philip, N., Swillen, A., Vorstman, J.A., Zackai, E.H., Emanuel, B.S., Vermeesch, J.R., Morrow, B.E., et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers, 1, 2015, 15071.
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Nat Rev Dis Primers
, vol.1
, pp. 15071
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McDonald-McGinn, D.M.1
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Zackai, E.H.7
Emanuel, B.S.8
Vermeesch, J.R.9
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51
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84907024548
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Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype
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51 Skogberg, G., Lundberg, V., Lindgren, S., Gudmundsdottir, J., Sandstrom, K., Kampe, O., Anneren, G., Gustafsson, J., Sunnegardh, J., van der Post, S., et al. Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype. J Immunol 193 (2014), 2187–2195.
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J Immunol
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, pp. 2187-2195
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Skogberg, G.1
Lundberg, V.2
Lindgren, S.3
Gudmundsdottir, J.4
Sandstrom, K.5
Kampe, O.6
Anneren, G.7
Gustafsson, J.8
Sunnegardh, J.9
van der Post, S.10
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52
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84907485548
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Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens
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52 Gimenez-Barcons, M., Casteras, A., Armengol Mdel, P., Porta, E., Correa, P.A., Marin, A., Pujol-Borrell, R., Colobran, R., Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol 193 (2014), 3872–3879.
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J Immunol
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Gimenez-Barcons, M.1
Casteras, A.2
Armengol Mdel, P.3
Porta, E.4
Correa, P.A.5
Marin, A.6
Pujol-Borrell, R.7
Colobran, R.8
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53
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33845252249
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Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome
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53 Soderbergh, A., Gustafsson, J., Ekwall, O., Hallgren, A., Nilsson, T., Kampe, O., Rorsman, F., Anneren, G., Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. Acta Paediatr 95 (2006), 1657–1660.
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Acta Paediatr
, vol.95
, pp. 1657-1660
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Soderbergh, A.1
Gustafsson, J.2
Ekwall, O.3
Hallgren, A.4
Nilsson, T.5
Kampe, O.6
Rorsman, F.7
Anneren, G.8
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54
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84991282566
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AIRE genetic variants and predisposition to polygenic autoimmune disease: the case of Graves’ disease and a systematic literature review
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This recent review reports a systematic literature search on genetics variants in AIRE and predisposition to polygenic disease.
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54• Colobran, R., Gimenez-Barcons, M., Marin-Sanchez, A., Porta-Pardo, E., Pujol-Borrell, R., AIRE genetic variants and predisposition to polygenic autoimmune disease: the case of Graves’ disease and a systematic literature review. Hum Immunol, 2016 This recent review reports a systematic literature search on genetics variants in AIRE and predisposition to polygenic disease.
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(2016)
Hum Immunol
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Colobran, R.1
Gimenez-Barcons, M.2
Marin-Sanchez, A.3
Porta-Pardo, E.4
Pujol-Borrell, R.5
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55
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33745125038
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Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata
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55 Pforr, J., Blaumeiser, B., Becker, T., Freudenberg-Hua, Y., Hanneken, S., Eigelshoven, S., Cuyt, I., De Weert, J., Lambert, J., Kruse, R., et al. Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata. Tissue Antigens 68 (2006), 58–61.
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Tissue Antigens
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, pp. 58-61
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Pforr, J.1
Blaumeiser, B.2
Becker, T.3
Freudenberg-Hua, Y.4
Hanneken, S.5
Eigelshoven, S.6
Cuyt, I.7
De Weert, J.8
Lambert, J.9
Kruse, R.10
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56
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38849167508
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Genetic analysis of autoimmune regulator haplotypes in alopecia areata
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56 Wengraf, D.A., McDonagh, A.J., Lovewell, T.R., Vasilopoulos, Y., Macdonald-Hull, S.P., Cork, M.J., Messenger, A.G., Tazi-Ahnini, R., Genetic analysis of autoimmune regulator haplotypes in alopecia areata. Tissue Antigens 71 (2008), 206–212.
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Tissue Antigens
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Wengraf, D.A.1
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Lovewell, T.R.3
Vasilopoulos, Y.4
Macdonald-Hull, S.P.5
Cork, M.J.6
Messenger, A.G.7
Tazi-Ahnini, R.8
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57
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49749101709
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The autoimmune regulator gene (AIRE) is strongly associated with vitiligo
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57 Tazi-Ahnini, R., McDonagh, A.J., Wengraf, D.A., Lovewell, T.R., Vasilopoulos, Y., Messenger, A.G., Cork, M.J., Gawkrodger, D.J., The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. Br J Dermatol 159 (2008), 591–596.
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Br J Dermatol
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Tazi-Ahnini, R.1
McDonagh, A.J.2
Wengraf, D.A.3
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Vasilopoulos, Y.5
Messenger, A.G.6
Cork, M.J.7
Gawkrodger, D.J.8
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58
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34548576969
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Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE
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58 Jin, Y., Bennett, D.C., Amadi-Myers, A., Holland, P., Riccardi, S.L., Gowan, K., Fain, P.R., Spritz, R.A., Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE. Pigment Cell Res 20 (2007), 402–404.
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Pigment Cell Res
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, pp. 402-404
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Jin, Y.1
Bennett, D.C.2
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Holland, P.4
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Gowan, K.6
Fain, P.R.7
Spritz, R.A.8
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59
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77952888454
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Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
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59 Stahl, E.A., Raychaudhuri, S., Remmers, E.F., Xie, G., Eyre, S., Thomson, B.P., Li, Y., Kurreeman, F.A., Zhernakova, A., Hinks, A., et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 42 (2010), 508–514.
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Nat Genet
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Stahl, E.A.1
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Li, Y.7
Kurreeman, F.A.8
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60
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0034454508
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A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association
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60 Nithiyananthan, R., Heward, J.M., Allahabadia, A., Barnett, A.H., Franklyn, J.A., Gough, S.C., A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. J Clin Endocrinol Metab 85 (2000), 1320–1322.
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Nithiyananthan, R.1
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61
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84872169700
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Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study
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61 Garcia-Lozano, J.R., Torres-Agrela, B., Montes-Cano, M.A., Ortiz-Fernandez, L., Conde-Jaldon, M., Teruel, M., Garcia, A., Nunez-Roldan, A., Martin, J., Gonzalez-Escribano, M.F., Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study. Arthritis Res Ther, 15, 2013, R11.
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Garcia-Lozano, J.R.1
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62
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AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis
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62 Ferrera, F., Rizzi, M., Sprecacenere, B., Balestra, P., Sessarego, M., Di Carlo, A., Filaci, G., Gabrielli, A., Ravazzolo, R., Indiveri, F., AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. Clin Immunol 122 (2007), 13–17.
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Clin Immunol
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Ferrera, F.1
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