| 1 | AIRE, TOP2A
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| DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.
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| Guha M, Saare M, Maslovskaja J, Kisand K, Liiv I, Haljasorg U, Tasa T, Metspalu A, Milani L, Peterson P.
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| J Biol Chem 292(16):6542-6554. doi: 10.1074/jbc.M116.764704. Epub 2017 Feb 27.
2017
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| 2 | AIRE, CDK9
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| FBXO3 Protein Promotes Ubiquitylation and Transcriptional Activity of AIRE (Autoimmune Regulator).
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| Shao W, Zumer K, Fujinaga K, Peterlin BM.
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| J Biol Chem 291(34):17953-63. doi: 10.1074/jbc.M116.724401. Epub 2016 Jun 30.
2016
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| 3 | AIRE
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| Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
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| Sparks AE, Chen C, Breslin MB, Lan MS.
|
| J Biol Chem 291(21):11313-22. doi: 10.1074/jbc.M116.722488. Epub 2016 Apr 5.
2016
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| 4 | AIRE
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| Extended HSR/CARD domain mediates AIRE binding to DNA.
|
| Maslovskaja J, Saare M, Liiv I, Rebane A, Peterson P.
|
| Biochem Biophys Res Commun 468(4):913-20. doi: 10.1016/j.bbrc.2015.11.056. Epub 2015 Nov 27.
2015
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| 5 | AIRE, PGA1
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| Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
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| Couturier A, Saugier-Veber P, Carel JC, Bertherat J, Brézin AP.
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| Cornea 34(9):1086-91. doi: 10.1097/ICO.0000000000000513.
2015
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| 6 | AIRE, PGA1
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| Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
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| Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES.
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| Immunity 42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021.
2015
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| 7 | AIRE
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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.
|
| Giménez-Barcons M, Casteràs A, Armengol Mdel P, Porta E, Correa PA, Marín A, Pujol-Borrell R, Colobran R.
|
| J Immunol 193(8):3872-9. doi: 10.4049/jimmunol.1400223. Epub 2014 Sep 12.
2014
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| 8 | AIRE
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| AIRE acetylation and deacetylation: effect on protein stability and transactivation activity.
|
| Incani F, Serra M, Meloni A, Cossu C, Saba L, Cabras T, Messana I, Rosatelli MC.
|
| J Biomed Sci 21:85. doi: 10.1186/s12929-014-0085-z.
2014
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| 9 | AIRE, PGA1
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| New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.
|
| Mora M, Hanzu FA, Pradas-Juni M, Aranda GB, Halperin I, Puig-Domingo M, Aguiló S, Fernández-Rebollo E.
|
| PLoS One 9(7):e101616. doi: 10.1371/journal.pone.0101616. eCollection 2014.
2014
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| 10 | AIRE
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| The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein.
|
| Perniola R, Musco G.
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| Biochim Biophys Acta 1842(2):326-37. doi: 10.1016/j.bbadis.2013.11.020. Epub 2013 Nov 22. Review.
2014
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| 11 | AIRE
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| Aire's plant homeodomain(PHD)-2 is critical for induction of immunological tolerance.
|
| Yang S, Bansal K, Lopes J, Benoist C, Mathis D.
|
| Proc Natl Acad Sci U S A 110(5):1833-8. doi: 10.1073/pnas.1222023110. Epub 2013 Jan 14.
2013
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| 12 | AIRE
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| Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I.
|
| Breunig A, Lee MS, Miller BS, Binstadt BA, Anderson MS, Montezuma S.
|
| Ocul Immunol Inflamm 21(2):153-7. doi: 10.3109/09273948.2012.754906.
2013
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| 13 | AIRE, PGA1
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| A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
|
| Zhang J, Liu H, Liu Z, Liao Y, Guo L, Wang H, He L, Zhang X, Xing Q.
|
| PLoS One 8(1):e53981. doi: 10.1371/journal.pone.0053981. Epub 2013 Jan 8.
2013
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| 14 | AIRE, GAPDH
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| AIRE-induced apoptosis is associated with nuclear translocation of stress sensor protein GAPDH.
|
| Liiv I, Haljasorg U, Kisand K, Maslovskaja J, Laan M, Peterson P.
|
| Biochem Biophys Res Commun 423(1):32-7. doi: 10.1016/j.bbrc.2012.05.057. Epub 2012 May 18.
2012
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| 15 | AIRE
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| Autoimmune regulator is acetylated by transcription coactivator CBP/p300.
|
| Saare M, Rebane A, Rajashekar B, Vilo J, Peterson P.
|
| Exp Cell Res 318(14):1767-78. doi: 10.1016/j.yexcr.2012.04.013. Epub 2012 May 30.
2012
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| 16 | AIRE
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| DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues.
|
| Kont V, Murumägi A, Tykocinski LO, Kinkel SA, Webster KE, Kisand K, Tserel L, Pihlap M, Ströbel P, Scott HS, Marx A, Kyewski B, Peterson P.
|
| Mol Immunol 49(3):518-26. Epub 2011 Oct 27.
2011
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| 17 | AIRE
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| Decreased AIRE expression and global thymic hypofunction in Down syndrome.
|
| Lima FA, Moreira-Filho CA, Ramos PL, Brentani H, Lima Lde A, Arrais M, Bento-de-Souza LC, Bento-de-Souza L, Duarte MI, Coutinho A, Carneiro-Sampaio M.
|
| J Immunol 187(6):3422-30. Epub 2011 Aug 19.
2011
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| 18 | AIRE, CDK9
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| Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.
|
| Žumer K, Plemenitaš A, Saksela K, Peterlin BM.
|
| Nucleic Acids Res 39(18):7908-19. Epub 2011 Jun 30.
2011
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| 19 | AIRE
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| The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
|
| Terao C, Yamada R, Ohmura K, Takahashi M, Kawaguchi T, Kochi Y; Human Disease Genomics Working Group; RA Clinical and Genetic Study Consortium, Okada Y, Nakamura Y, Yamamoto K, Melchers I, Lathrop M, Mimori T, Matsuda F.
|
| Hum Mol Genet 20(13):2680-5. Epub 2011 Apr 19.
2011
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| 20 | AIRE
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| The role of AIRE in human autoimmune disease.
|
| Akirav EM, Ruddle NH, Herold KC.
|
| Nat Rev Endocrinol 7(1):25-33. Epub 2010 Nov 23. Review.
2011
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| 21 | AIRE, PGA1
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| Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity.
|
| Fierabracci A.
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| Autoimmun Rev 10(3):137-43. Epub 2010 Sep 17. Review.
2011
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| 22 | AIRE, CCNB2
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| AIRE1A might be involved in cyclin B2 degradation in testicular lysates.
|
| Brahmaraju M, Bhagya KP, Titus S, Sebastian A, Devi AN, Laloraya M, Kumar PG.
|
| Biochem Cell Biol 89(4):411-22. doi: 10.1139/O11-029.
2011
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| 23 | AIRE, XCL1
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| Aire-dependent production of XCL1 mediates medullary accumulation of thymic dendritic cells and contributes to regulatory T cell development.
|
| Lei Y, Ripen AM, Ishimaru N, Ohigashi I, Nagasawa T, Jeker LT, Bösl MR, Holländer GA, Hayashi Y, Malefyt Rde W, Nitta T, Takahama Y.
|
| J Exp Med 208(2):383-94. doi: 10.1084/jem.20102327. Epub 2011 Feb 7.
2011
|
| 24 | AIRE, DAXX
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| DAXX is a new AIRE-interacting protein.
|
| Meloni A, Fiorillo E, Corda D, Incani F, Serra ML, Contini A, Cao A, Rosatelli MC.
|
| J Biol Chem 285(17):13012-21. Epub 2010 Feb 25.PMID: 20185822 2010
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| 25 | AIRE
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| The role of AIRE polymorphisms in melanoma.
|
| Conteduca G, Ferrera F, Pastorino L, Fenoglio D, Negrini S, Sormani MP, Indiveri F, Scarrà GB, Filaci G.
|
| Clin Immunol 136(1):96-104. Epub 2010 Apr 2.
2010
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| 26 | AIRE, DEAF1
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| Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells.
|
| Gu B, Zhang J, Chen Q, Tao B, Wang W, Zhou Y, Chen L, Liu Y, Zhang M.
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| Biochem Biophys Res Commun 394(2):418-23. Epub 2010 Mar 10. 2010
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| 27 | AIRE, TP63
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| Wild-type AIRE cooperates with p63 in HLA class II expression of medullary thymic stromal cells.
|
| Tonooka A, Kubo T, Ichimiya S, Tamura Y, Ilmarinen T, Ulmanen I, Kimura S, Yokoyama S, Takano Y, Kikuchi T, Sato N.
|
| Biochem Biophys Res Commun 379(3):765-70. Epub 2009 Jan 3.
2009
|
| 28 | AIRE, PGA1
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| Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.
|
| Zaidi G, Sahu RP, Zhang L, George G, Bhavani N, Shah N, Bhatia V, Bhansali A, Jevalikar G, Jayakumar RV, Eisenbarth GS, Bhatia E.
|
| Clin Genet 76(5):441-8. Epub 2009 Oct 6.PMID: 19807739 2009
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| 29 | AIRE
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| AIRE activated tissue specific genes have histone modifications associated with inactive chromatin.
|
| Org T, Rebane A, Kisand K, Laan M, Haljasorg U, Andreson R, Peterson P.
|
| Hum Mol Genet 18(24):4699-710. Epub 2009 Sep 10.PMID: 19744957 2009
|
| 30 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
|
| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
|
| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
|
| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
|
| 31 | AIRE
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| Expression of AIRE in thymocytes and peripheral lymphocytes.
|
| Suzuki E, Kobayashi Y, Kawano O, Endo K, Haneda H, Yukiue H, Sasaki H, Yano M, Maeda M, Fujii Y.
|
| Autoimmunity 41(2):133-9. Review.
2008
|
| 32 | AIRE
|
| The autoimmune regulator gene (AIRE) is strongly associated with vitiligo.
|
| Tazi-Ahnini R, McDonagh AJ, Wengraf DA, Lovewell TR, Vasilopoulos Y, Messenger AG, Cork MJ, Gawkrodger DJ.
|
| Br J Dermatol 159(3):591-6. Epub 2008 Jul 4.
2008
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| 33 | AIRE
|
| Expression of Aire and the early wave of apoptosis in spermatogenesis.
|
| Schaller CE, Wang CL, Beck-Engeser G, Goss L, Scott HS, Anderson MS, Wabl M.
|
| J Immunol 180(3):1338-43.
2008
|
| 34 | AIRE, PIAS1
|
| Functional interaction of AIRE with PIAS1 in transcriptional regulation.
|
| Ilmarinen T, Kangas H, Kytömaa T, Eskelin P, Saharinen J, Seeler JS, Tanhuanpää K, Chan FY, Slattery RM, Alakurtti K, Palvimo JJ, Ulmanen I.
|
| Mol Immunol 45(7):1847-62.PMID: 18083234 2008
|
| 35 | AIRE
|
| Critical immunological pathways are downregulated in APECED patient dendritic cells.
|
| Pöntynen N, Strengell M, Sillanpää N, Saharinen J, Ulmanen I, Julkunen I, Peltonen L.
|
| J Mol Med 86(10):1139-52. Epub 2008 Jul 4.
2008
|
| 36 | IRF8, AIRE, CHRNA1
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| An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
|
| Giraud M, Taubert R, Vandiedonck C, Ke X, Levi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ.
|
| Nature 448(7156):934-7. Epub 2007 Aug 8. 2007
|
| 37 | AIRE
|
| Ets transcription factors regulate AIRE gene promoter.
|
| Murumagi A, Silvennoinen O, Peterson P.
|
| Biochem Biophys Res Commun 348(2):768-74. Epub 2006 Jul 31. 2006
|
| 38 | AIRE, PGA1
|
| Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.
|
| Pforr J, Blaumeiser B, Becker T, Freudenberg-Hua Y, Hanneken S, Eigelshoven S, Cuyt I, De Weert J, Lambert J, Kruse R, Nothen MM, Betz RC.
|
| Tissue Antigens 68(1):58-61. 2006
|
| 39 | AIRE, PGA1
|
| Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
|
| Turunen JA, Wessman M, Forsblom C, Kilpikari R, Parkkonen M, Pontynen N, Ilmarinen T, Ulmanen I, Peltonen L, Groop PH.
|
| Immunogenetics 58(5-6):331-8. Epub 2006 Mar 22. 2006
|
| 40 | AIRE, PGA1
|
| Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
|
| Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowinska E, Wlodarski P, Skorka A, Gremida M, Krajewski P, Ploski R.
|
| Clin Genet 70(4):348-54. 2006
|
| 41 | AIRE, UBAC1
|
| AIRE recruits multiple transcriptional components to specific genomic regions through tethering to nuclear matrix
|
| Tao Y, Kupfer R, Stewart BJ, Williams-Skipp C, Crowell CK, Patel DD, Sain S, Scheinman RI.
|
| Mol Immunol. Feb;43(4):335-45. doi: 10.1016/j.molimm.2005.02.018. Epub 2005 Mar 23. 2006
|
| 42 | AIRE
|
| Mapping DNA-binding domains of the autoimmune regulator protein.
|
| Purohit S, Kumar PG, Laloraya M, She JX.
|
| Biochem Biophys Res Commun 327(3):939-44. 2005
|
| 43 | AIRE, PGA1
|
| Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
|
| Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I.
|
| Hum Mutat 26(4):322-31. 2005
|
| 44 | PGA1, AIRE
|
| Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
|
| Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T.
|
| J Clin Endocrinol Metab 90(8):4930-5. Epub 2005 May 10. 2005
|
| 45 | AIRE, PGA1
|
| APECED-causing mutations in AIRE reveal the functional domains of the protein.
|
| Halonen M, Kangas H, Ruppell T, Ilmarinen T, Ollila J, Kolmer M, Vihinen M, Palvimo J, Saarela J, Ulmanen I, Eskelin P.
|
| Hum Mutat 23(3):245-57. 2004
|
| 46 | AIRE
|
| Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting.
|
| Ramsey C, Bukrinsky A, Peltonen L.
|
| Hum Mol Genet 11(26):3299-308. 2002
|
| 47 | PGA1, AIRE
|
| AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
|
| Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J.
|
| J Clin Endocrinol Metab 87(6):2568-74. 2002
|
| 48 | AIRE, PGA1
|
| Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
|
| Meyer G, Badenhoop K.
|
| J Endocrinol Invest 25(9):804-11. Review. 2002
|
| 49 | AIRE, PGA1
|
| Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
|
| Boe AS, Knappskog PM, Myhre AG, Sorheim JI, Husebye ES.
|
| Eur J Endocrinol 146(4):519-22. 2002
|
| 50 | AIRE, PGA1
|
| Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I.
|
| Hogenauer C, Meyer RL, Netto GJ, Bell D, Little KH, Ferries L, Santa Ana CA, Porter JL, Fordtran JS.
|
| N Engl J Med 344(4):270-4. No abstract available. 2001
|
| 51 | AIRE, GATA3, GCM2
|
| Genetic developments in hypoparathyroidism.
|
| Thakker RV.
|
| Lancet 357(9261):974-6. No abstract available. 2001
|
| 52 | AIRE, PGA1
|
| Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
|
| Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halasz Z, Blumel P, Tawfik S, Krohn K, Lebl J, Peterson P.
|
| Hum Mutat 18(3):225-32. 2001
|
| 53 | AIRE, PGA1
|
| APECED mutations in the autoimmune regulator (AIRE) gene.
|
| Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K.
|
| Hum Mutat 18(3):205-11. Review. 2001
|
| 54 | AIRE
|
| Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
|
| Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frebourg T, Lefebvre H.
|
| Eur J Endocrinol 144(4):347-51. 2001
|
| 55 | AIRE, PGA1
|
| Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
|
| Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L.
|
| Am J Hum Genet 66(2):378-92. 2000
|
| 56 | AIRE
|
| Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
|
| Zuklys S, Balciunaite G, Agarwal A, Fasler-Kan E, Palmer E, Hollander GA.
|
| J Immunol 165(4):1976-83. 2000
|
| 57 | AIRE, PGA1
|
| AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments : altered sub-cellular distribution of mutants lacking the PHD zinc fingers.
|
| Rinderle C, et al.
|
| Hum Mol Genet 8 : 277-290. 1999
|
| 58 | AIRE, PGA1
|
| Localization of the APECED protein in distinct nuclear structures.
|
| Bjšrses P, et al.
|
| Hum Mol Genet 8 : 259-266. 1999
|
| 59 | AIRE
|
| Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (APS1)
|
| Wang CY, et al.
|
| Genomics 55 : 322-326. 1999
|
| 60 | AIRE
|
| Identification of a potential transcription regulator mutated in autoimmune polyglandular disease 1. (abstr)
|
| Antonarakis SE, et al.
|
| Eur J Hum Genet 6 : C202. 1998
|
| 61 | AIRE, PGA1
|
| Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
|
| Scott HS, et al.
|
| Mol Endocrinol 12 : 1112-1119. 1998
|
| 62 | AIRE, PGA1
|
| A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
|
| Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P.
|
| Am J Hum Genet 63 : 1675-1684. 1998
|
| 63 | AIRE, PFKL
|
| Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3.
|
| Kudoh J, Nagamine K, Asakawa S, Abe I, Kawasaki K, Maeda H, Tsujimoto S, Minoshima S, Ito F, Shimizu N.
|
| DNA Res 4(1):45-52. 1997
|
| 64 | AIRE
|
| A signature motif in transcriptional co-activators mediates binding to nuclear receptors.
|
| Heery DM, Kalkhoven E, Hoare S, Parker MG.
|
| Nature 387(6634):733-6. 1997
|
| 65 | AIRE, PGA1
|
| An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
|
| The Finnish-German APECED Consortium.
|
| Nat Genet 17(4):399-403. 1997
|
| 66 | AIRE, PGA1
|
| Positional cloning of the APECED gene.
|
| Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N.
|
| Nat Genet 17(4):393-8. 1997
|