Citations for
1AIRE, TOP2A
DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.
Guha M, Saare M, Maslovskaja J, Kisand K, Liiv I, Haljasorg U, Tasa T, Metspalu A, Milani L, Peterson P.
J Biol Chem 292(16):6542-6554. doi: 10.1074/jbc.M116.764704. Epub 2017 Feb 27. 2017
2AIRE, CDK9
FBXO3 Protein Promotes Ubiquitylation and Transcriptional Activity of AIRE (Autoimmune Regulator).
Shao W, Zumer K, Fujinaga K, Peterlin BM.
J Biol Chem 291(34):17953-63. doi: 10.1074/jbc.M116.724401. Epub 2016 Jun 30. 2016
3AIRE
Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
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
4AIRE
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
5AIRE, PGA1
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
Couturier A, Saugier-Veber P, Carel JC, Bertherat J, Brézin AP.
Cornea 34(9):1086-91. doi: 10.1097/ICO.0000000000000513. 2015
6AIRE, PGA1
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
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.
Immunity 42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. 2015
7AIRE
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
8AIRE
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
9AIRE, PGA1
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
10AIRE
The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein.
Perniola R, Musco G.
Biochim Biophys Acta 1842(2):326-37. doi: 10.1016/j.bbadis.2013.11.020. Epub 2013 Nov 22. Review. 2014
11AIRE
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
12AIRE
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
13AIRE, PGA1
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
14AIRE, GAPDH
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
15AIRE
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
16AIRE
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
17AIRE
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
18AIRE, CDK9
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
19AIRE
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
20AIRE
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
21AIRE, PGA1
Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity.
Fierabracci A.
Autoimmun Rev 10(3):137-43. Epub 2010 Sep 17. Review. 2011
22AIRE, CCNB2
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
23AIRE, XCL1
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
24AIRE, DAXX
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
25AIRE
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
26AIRE, DEAF1
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.
Biochem Biophys Res Commun 394(2):418-23. Epub 2010 Mar 10. 2010
27AIRE, TP63
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
28AIRE, PGA1
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
29AIRE
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
30AIRE, 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
31AIRE
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
32AIRE
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
33AIRE
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
34AIRE, 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
35AIRE
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
36IRF8, AIRE, CHRNA1
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
37AIRE
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
38AIRE, 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
39AIRE, 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
40AIRE, 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
41AIRE
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
42AIRE, 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
43PGA1, 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
44AIRE, 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
45AIRE
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
46PGA1, 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
47AIRE, 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
48AIRE, 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
49AIRE, 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
50AIRE, GATA3, GCM2
Genetic developments in hypoparathyroidism.
Thakker RV.
Lancet 357(9261):974-6. No abstract available. 2001
51AIRE, 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
52AIRE, 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
53AIRE
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
54AIRE, 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
55AIRE
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
56AIRE, 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
57AIRE, PGA1
Localization of the APECED protein in distinct nuclear structures.
Bjšrses P, et al.
Hum Mol Genet 8 : 259-266. 1999
58AIRE
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
59AIRE
Identification of a potential transcription regulator mutated in autoimmune polyglandular disease 1. (abstr)
Antonarakis SE, et al.
Eur J Hum Genet 6 : C202. 1998
60AIRE, PGA1
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott HS, et al.
Mol Endocrinol 12 : 1112-1119. 1998
61AIRE, 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
62AIRE, 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
63AIRE
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
64AIRE, 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
65AIRE, 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