AIRE

Summary Top Help

Gene Description:

autoimmune regulator; autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)

Synonyms:

APS1, AIRE1, PGA1, APSI, APECED, AIRE, Aire

Orthologs:

Human AIRE (protein-coding), Mouse Aire (protein-coding), Rat Aire (protein-coding)

Sources

Overlapping regions from T1DBase Curated Regions Top Help

Regions Overlapping this Feature: Human: 1 Mouse: 1 Rat: 1

Associated Regions: 1 Available

Region	Species	Chromosomal Location	Mb	Number of genes	Marker
21q22.3	Human	chr21:45673649..45763642	0.09	4	rs760426

Other Regions: 2 Available

Locus	Species	Chromosomal Location	Mb	Number of genes
Human 21q22.3 Orthologous Region	Mouse	chr10:77441232..77516767	0.08	4
Human 21q22.3 Orthologous Region	Rat	chr20:10967420..11041044	0.07	4

Gene Overview from Genome Browser Top Help

(Human) GRCh37 - chr21:45705721..45718531 (12.81 kb) View in Genome Browser

(Mouse) NCBIM37 - chr10:77492767..77506355 (13.59 kb) View in Genome Browser

(Rat) RGSC3.4 - chr20:10980031..10996102 (167 kb) View in Genome Browser

HaemAtlas Expression from HaemAtlas Top Help

HaemAtlas Expression Table for AIRE:

Beta Cell Expression from Beta Cell Gene Atlas Top Help

Cell Types Showing Expression: Available

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Human					Mouse			Rat
ductal cells	exocrine pancreas	pancreatic islets	primary beta cells	Pancreatic Islets MPSS	beta cell line	pancreatic islets	whole pancreas	alpha cell	beta cell line	pancreatic islets	primary beta cells	whole pancreas
								no data	no data	no data	no data	no data

Expression Legend

Tissue Expression from GNF Gene Atlas Top Help

Tissues Showing Expression: Available

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Expression Legend

Interactions Top Help

Interactions Table for AIRE:

The AIRE interactions are shown below. Each row lists the two interactors, the sources which document this as an interaction, a classification of the interaction as empirical or predicted, and Pubmed IDs (if any) for the interaction.

The table of interactions is downloadable as a text file. Please note that the text file will not include data from HPRD due to restrictions imposed by the HPRD funding sources.

Interactor	Interactor	Sources	Classification	Pubmed IDs
AIRE	RANBP9	IntAct, BioGRID	empirical	20085707
AIRE	TRIM28	IntAct, BioGRID	empirical	20085707
AIRE	MYBBP1A	IntAct, BioGRID	empirical	20085707
AIRE	DDX17	IntAct, BioGRID	empirical	20085707
AIRE	IPO7	IntAct, BioGRID	empirical	20085707
AIRE	NOP56	IntAct, BioGRID	empirical	20085707
AIRE	RUVBL2	IntAct, BioGRID	empirical	20085707
AIRE	GCN1L1	IntAct	empirical	20085707
AIRE	SUPT16H	IntAct	empirical	20085707
AIRE	XPOT	IntAct, BioGRID	empirical	20085707
AIRE	CREBBP	HPRD, BioGRID	empirical	10748110 12929931
AIRE	CRK	IntAct	empirical	17474147
AIRE	PARP1	IntAct, BioGRID	empirical	20085707
AIRE	DAXX	IntAct	empirical	20185822
AIRE	DDX5	IntAct, BioGRID	empirical	20085707
AIRE	ABL1	IntAct	empirical	17474147
AIRE	FYN	IntAct	empirical	17474147
AIRE	GEMIN5	IntAct, BioGRID	empirical	20085707
AIRE	PABPC1	IntAct, BioGRID	empirical	20085707
AIRE	GRB2	IntAct	empirical	17474147
AIRE	MSH6	IntAct, BioGRID	empirical	20085707
AIRE	H2AFX	IntAct	empirical	20085707
AIRE	AIRE	HPRD, IntAct, BioGRID	empirical	10748110 11533054 20185822 12929931
AIRE	HSPA4	BioGRID	empirical	15150263
AIRE	HSPA5	BioGRID	empirical	15150263
AIRE	KPNB1	IntAct, BioGRID	empirical	20085707
AIRE	LMNB1	IntAct, BioGRID	empirical	20085707
AIRE	MCM2	IntAct	empirical	20085707
AIRE	MCM5	IntAct, BioGRID	empirical	20085707
AIRE	MCM6	IntAct, BioGRID	empirical	20085707
AIRE	HIST2H2BF	IntAct	empirical	20085707
AIRE	MSH2	IntAct, BioGRID	empirical	20085707
AIRE	NASP	IntAct, BioGRID	empirical	20085707
AIRE	NCK1	IntAct	empirical	17474147
AIRE	PCNA	IntAct, BioGRID	empirical	20085707
AIRE	PIK3R1	IntAct	empirical	17474147
AIRE	PLCG1	IntAct	empirical	17474147
AIRE	POLR2A	IntAct, BioGRID	empirical	20085707
AIRE	POLR2B	IntAct, BioGRID	empirical	20085707
AIRE	CAND1	IntAct	empirical	20085707
AIRE	PRKDC	IntAct, BioGRID	empirical	20085707
AIRE	RAD21	IntAct, BioGRID	empirical	20085707
AIRE	RANBP2	IntAct	empirical	20085707
AIRE	SRSF1	IntAct, BioGRID	empirical	20085707
AIRE	SRSF2	IntAct, BioGRID	empirical	20085707
AIRE	SRSF3	IntAct, BioGRID	empirical	20085707
AIRE	SNRPB	IntAct, BioGRID	empirical	20085707
AIRE	SNRPD3	IntAct, BioGRID	empirical	20085707
AIRE	SRC	IntAct	empirical	17474147
AIRE	SSRP1	BioGRID	empirical	20085707
AIRE	C1QBP	IntAct	empirical	20085707
AIRE	TOP2A	IntAct, BioGRID	empirical	20085707
AIRE	XPO1	IntAct, BioGRID	empirical	20085707
AIRE	XRCC5	IntAct	empirical	20085707
AIRE	SMC1A	IntAct, BioGRID	empirical	20085707
AIRE	HIST3H3	IntAct	empirical	20085707
AIRE	HIST1H2AC	IntAct, BioGRID	empirical	20085707
AIRE	HIST1H2BO	IntAct, BioGRID	empirical	20085707
AIRE	HIST2H2BE	BioGRID	empirical	18292755
AIRE	HIST1H3A	BioGRID	empirical	18292755
AIRE	CHD6	IntAct	empirical	20085707
AIRE	SMC3	IntAct, BioGRID	empirical	20085707
AIRE	EFTUD2	IntAct, BioGRID	empirical	20085707
AIRE	NUP93	IntAct, BioGRID	empirical	20085707

Cross-Reference to Pathways and GO Terms Top Help

View all

KEGG Network: 2

Biocarta: None available

Reactome: None available

NCI-Nature Pathway Interaction Database: None available

Gene Ontology: 19

Publications from PubMed Top Help

Type 1 Diabetes Publications: 19

Age-related deregulation of Aire and peripheral tissue antigen genes in the thymic stroma of non-obese diabetic (NOD) mice is associated with autoimmune type 1 diabetes mellitus (DM-1).
Fornari TA, Donate PB, Macedo C, Marques MM, Magalhães DA, Passos GA
Mol Cell Biochem. 2010
PubMed ID: 20414703
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.
Zaidi G, Sahu R, Zhang L, George G, Bhavani N, Shah N, Bhatia V, Bhansali A, Jevalikar G, Jayakumar R, Eisenbarth G, Bhatia E
Clin Genet. 2009
PubMed ID: 19807739
Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes.
Nejentsev S, Walker N, Riches D, Egholm M, Todd JA
Science. 2009
PubMed ID: 19264985
The variable immunological self: genetic variation and nongenetic noise in Aire-regulated transcription.
Venanzi ES, Melamed R, Mathis D, Benoist C
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18838677
Novel homozygous AIRE mutation in a German patient with severe APECED.
von Schnurbein J, Lahr G, Posovszky C, Debatin KM, Wabitsch M
J Pediatr Endocrinol Metab. 2008
PubMed ID: 19209622
Transcriptional impact of Aire varies with cell type.
Guerau-de-Arellano M, Mathis D, Benoist C
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18780794
Aire deficiency causes increased susceptibility to streptozotocin-induced murine type 1 diabetes.
Hässler S, Peltonen L, Sandler S, Winqvist O
Scand J Immunol. 2008
PubMed ID: 18399912
Aire-ing self antigen variability and tolerance.
Holmdahl R
Eur J Immunol. 2007
PubMed ID: 17323409
Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
Turunen JA, Wessman M, Forsblom C, Kilpikari R, Parkkonen M, Pöntynen N, Ilmarinen T, Ulmanen I, Peltonen L, Groop PH
Immunogenetics. 2006
PubMed ID: 16552513
Alteration of intra-pancreatic target-organ specificity by abrogation of Aire in NOD mice.
Niki S, Oshikawa K, Mouri Y, Hirota F, Matsushima A, Yano M, Han H, Bando Y, Izumi K, Matsumoto M, Nakayama KI, Kuroda N, Matsumoto M
J Clin Invest. 2006
PubMed ID: 16628255
Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism.
Goswami R, Gupta N, Ray D, Rani R, Tomar N, Sarin R, Vupputuri MR
Int J Immunogenet. 2005
PubMed ID: 16313305
Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus.
Sabater L, Ferrer-Francesch X, Sospedra M, Caro P, Juan M, Pujol-Borrell R
J Autoimmun. 2005
PubMed ID: 16246524
Modifier loci condition autoimmunity provoked by Aire deficiency.
Jiang W, Anderson MS, Bronson R, Mathis D, Benoist C
J Exp Med. 2005
PubMed ID: 16172259
Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.
Liston A, Gray DH, Lesage S, Fletcher AL, Wilson J, Webster KE, Scott HS, Boyd RL, Peltonen L, Goodnow CC
J Exp Med. 2004
PubMed ID: 15492124
Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
Kogawa K, Kudoh J, Nagafuchi S, Ohga S, Katsuta H, Ishibashi H, Harada M, Hara T, Shimizu N
Clin Immunol. 2002
PubMed ID: 12173302
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, Kämpe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J
J Clin Endocrinol Metab. 2002
PubMed ID: 12050215
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K
Hum Mutat. 2001
PubMed ID: 11524731
Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.
Meyer G, Donner H, Herwig J, Böhles H, Usadel KH, Badenhoop K
Clin Endocrinol (Oxf). 2001
PubMed ID: 11298085
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
Heino M, Peterson P, Sillanpää N, Guérin S, Wu L, Anderson G, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Jenkinson EJ, Naquet P, Krohn KJ
Eur J Immunol. 2000
PubMed ID: 10940877

Publications: 211

Aire unleashes stalled RNA polymerase to induce ectopic gene expression in thymic epithelial cells.
Giraud M, Yoshida H, Abramson J, Rahl PB, Young RA, Mathis D, Benoist C
Proc Natl Acad Sci U S A. 2012
PubMed ID: 22203960
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. 2011
PubMed ID: 22036612
Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence.
Nowell CS, Bredenkamp N, Tetélin S, Jin X, Tischner C, Vaidya H, Sheridan JM, Stenhouse FH, Heussen R, Smith AJ, Blackburn CC
PLoS Genet. 2011
PubMed ID: 22072979
Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.
Žumer K, Plemenitaš A, Saksela K, Peterlin BM
Nucleic Acids Res. 2011
PubMed ID: 21724609
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. 2011
PubMed ID: 21856934
Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance.
Hubert FX, Kinkel SA, Davey GM, Phipson B, Mueller SN, Liston A, Proietto AI, Cannon PZ, Forehan S, Smyth GK, Wu L, Goodnow CC, Carbone FR, Scott HS, Heath WR
Blood. 2011
PubMed ID: 21505196
Mouse thymic epithelial cell lines expressing "Aire" and peripheral tissue-specific antigens reproduce in vitro negative selection of T cells.
Yamaguchi Y, Takayanagi A, Chen J, Sakai K, Kudoh J, Shimizu N
Exp Cell Res. 2011
PubMed ID: 21683072
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. 2011
PubMed ID: 21819345
Autoimmune regulator (AIRE)-deficient CD8+CD28low regulatory T lymphocytes fail to control experimental colitis.
Pomié C, Vicente R, Vuddamalay Y, Lundgren BA, van der Hoek M, Enault G, Kagan J, Fazilleau N, Scott HS, Romagnoli P, van Meerwijk JP
Proc Natl Acad Sci U S A. 2011
PubMed ID: 21746930
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. 2011
PubMed ID: 21505073
Defective central tolerance in Aire-deficient mice is not sufficient to induce symptomatic autoimmunity during lymphopenia-induced T cell proliferation.
Kekäläinen E, Lehto MK, Smeds E, Miettinen A, Meri S, Jarva H, Arstila TP
Scand J Immunol. 2011
PubMed ID: 21352256
Lymphotoxin signal promotes thymic organogenesis by eliciting RANK expression in the embryonic thymic stroma.
Mouri Y, Yano M, Shinzawa M, Shimo Y, Hirota F, Nishikawa Y, Nii T, Kiyonari H, Abe T, Uehara H, Izumi K, Tamada K, Chen L, Penninger JM, Inoue J, Akiyama T, Matsumoto M
J Immunol. 2011
PubMed ID: 21441458
The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin
Kumar V, Pedroza LA, Mace EM, Seeholzer S, Cotsarelis G, Condino-Neto A, Payne AS, Orange JS
Am J Pathol. 2011
PubMed ID: 21356351
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. 2011
PubMed ID: 21300913
Aire-dependent thymic expression of desmoglein 3, the autoantigen in pemphigus vulgaris, and its role in T-cell tolerance.
Wada N, Nishifuji K, Yamada T, Kudoh J, Shimizu N, Matsumoto M, Peltonen L, Nagafuchi S, Amagai M
J Invest Dermatol. 2011
PubMed ID: 21048786
The susceptibility of Aire(-/-) mice to experimental myasthenia gravis involves alterations in regulatory T cells.
Aricha R, Feferman T, Scott HS, Souroujon MC, Berrih-Aknin S, Fuchs S
J Autoimmun. 2011
PubMed ID: 21035305
The contribution of thymic stromal abnormalities to autoimmune disease.
Fletcher AL, Calder A, Hince MN, Boyd RL, Chidgey AP
Crit Rev Immunol. 2011
PubMed ID: 21740349
Overexpressing autoimmune regulator regulates the expression of toll-like receptors by interacting with their promoters in RAW264.7 cells.
Zhu W, Yang W, He Z, Liao X, Wu J, Sun J, Yang Y, Li Y
Cell Immunol. 2011
PubMed ID: 21628060
A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A
PLoS Biol. 2011
PubMed ID: 21267068
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model.
Ahlgren KM, Moretti S, Lundgren BA, Karlsson I, Ahlin E, Norling A, Hallgren A, Perheentupa J, Gustafsson J, Rorsman F, Crewther PE, Rönnelid J, Bensing S, Scott HS, Kämpe O, Romani L, Lobell A
Eur J Immunol. 2011
PubMed ID: 21182094
The role of AIRE in human autoimmune disease.
Akirav EM, Ruddle NH, Herold KC
Nat Rev Endocrinol. 2011
PubMed ID: 21102544
Screening large numbers of expression patterns of transcription factors in late stages of the mouse thymus.
Chung YC, Tsai YJ, Shiu TY, Sun YY, Wang PF, Chen CL
Gene Expr Patterns. 2011
PubMed ID: 20932939
Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity.
Fierabracci A
Autoimmun Rev. 2011
PubMed ID: 20850570
Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Casabonne D, Reina O, Benavente Y, Becker N, Maynadie' M, Foretova L, Cocco P, Gonzalez-Neira A, Nieters A, Boffetta P, Middeldorp JM, de Sanjose S
Haematologica. 2010
PubMed ID: 21048031
A large-scale candidate gene association study of age at menarche and age at natural menopause.
He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ
Hum Genet. 2010
PubMed ID: 20734064
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.
Cervato S, Morlin L, Albergoni MP, Masiero S, Greggio N, Meossi C, Chen S, del Pilar Larosa M, Furmaniak J, Rees Smith B, Alimohammadi M, Kämpe O, Valenzise M, Betterle C
Clin Endocrinol (Oxf). 2010
PubMed ID: 20718774
Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
Warnatz HJ, Querfurth R, Guerasimova A, Cheng X, Haas SA, Hufton AL, Manke T, Vanhecke D, Nietfeld W, Vingron M, Janitz M, Lehrach H, Yaspo ML
Nucleic Acids Res. 2010
PubMed ID: 20494980
Interleukin-1 as a phenotypic immunomodulator in keratinizing squamous metaplasia of the ocular surface in Sjögren's syndrome.
Chen YT, Nikulina K, Lazarev S, Bahrami AF, Noble LB, Gallup M, McNamara NA
Am J Pathol. 2010
PubMed ID: 20696775
T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency.
Teh CE, Daley SR, Enders A, Goodnow CC
Proc Natl Acad Sci U S A. 2010
PubMed ID: 20668237
Global relevance of Aire binding to hypomethylated lysine-4 of histone-3.
Koh AS, Kingston RE, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2010
PubMed ID: 20615959
Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
Ruaño G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR, Wu AH
Pharmacogenomics. 2010
PubMed ID: 20602615
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. 2010
PubMed ID: 20363194
Diversity of TCRs on natural Foxp3+ T cells in mice lacking Aire expression.
Daniely D, Kern J, Cebula A, Ignatowicz L
J Immunol. 2010
PubMed ID: 20483761
Biphasic Aire expression in early embryos and in medullary thymic epithelial cells before end-stage terminal differentiation.
Nishikawa Y, Hirota F, Yano M, Kitajima H, Miyazaki J, Kawamoto H, Mouri Y, Matsumoto M
J Exp Med. 2010
PubMed ID: 20404099
Increased apoptosis after autoimmune regulator expression in epithelial cells revealed by a combined quantitative proteomics approach.
Colomé N, Collado J, Bech-Serra JJ, Liiv I, Antón LC, Peterson P, Canals F, Jaraquemada D, Alvarez I
J Proteome Res. 2010
PubMed ID: 20218732
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Tóth B, Wolff AS, Halász Z, Tar A, Szüts P, Ilyés I, Erdos M, Szegedi G, Husebye ES, Zeher M, Maródi L
Clin Endocrinol (Oxf). 2010
PubMed ID: 19863576
DAXX is a new AIRE-interacting protein.
Meloni A, Meloni A, Fiorillo E, Corda D, Incani F, Serra ML, Contini A, Cao A, Rosatelli MC
J Biol Chem. 2010
PubMed ID: 20185822
Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst.
Guo G, Huss M, Tong GQ, Wang C, Li Sun L, Clarke ND, Robson P
Dev Cell. 2010
PubMed ID: 20412781
An autoimmune response to odorant binding protein 1a is associated with dry eye in the Aire-deficient mouse.
DeVoss JJ, LeClair NP, Hou Y, Grewal NK, Johannes KP, Lu W, Yang T, Meagher C, Fong L, Strauss EC, Anderson MS
J Immunol. 2010
PubMed ID: 20237294
Lymph node-resident lymphatic endothelial cells mediate peripheral tolerance via Aire-independent direct antigen presentation.
Cohen JN, Guidi CJ, Tewalt EF, Qiao H, Rouhani SJ, Ruddell A, Farr AG, Tung KS, Engelhard VH
J Exp Med. 2010
PubMed ID: 20308365
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. 2010
PubMed ID: 20226168
Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.
Poliani PL, Kisand K, Marrella V, Ravanini M, Notarangelo LD, Villa A, Peterson P, Facchetti F
Am J Pathol. 2010
PubMed ID: 20093495
[Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I]
Liu C, Shi Y, Yin H, Li H, Fan S, Wu S, Yuan P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010
PubMed ID: 20140861
Spatial (Tbata) expression in mature medullary thymic epithelial cells.
Saade M, Irla M, Yammine M, Boulanger N, Victorero G, Vincentelli R, Penninger JM, Holländer GA, Chauvet S, Nguyen C
Eur J Immunol. 2010
PubMed ID: 19918778
AIRE deficiency leads to impaired iNKT cell development.
Lindh E, Rosmaraki E, Berg L, Brauner H, Karlsson MC, Peltonen L, Höglund P, Winqvist O
J Autoimmun. 2010
PubMed ID: 19651488
Aire's partners in the molecular control of immunological tolerance.
Abramson J, Giraud M, Benoist C, Mathis D
Cell. 2010
PubMed ID: 20085707
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
Al-Owain M, Kaya N, Al-Zaidan H, Bin Hussain I, Al-Manea H, Al-Hindi H, Kennedy S, Iqbal MA, Al-Mojalli H, Al-Bakheet A, Puel A, Casanova JL, Al-Muhsen S
Clin Dev Immunol. 2010
PubMed ID: 21197407
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies.
Proust-Lemoine E, Saugier-Véber P, Lefranc D, Dubucquoi S, Ryndak A, Buob D, Lalau JD, Desailloud R, Weill J, Prin L, Lefebvre H, Wémeau JL
Horm Res Paediatr. 2010
PubMed ID: 20453472
Ultrastructure of medullary thymic epithelial cells of autoimmune regulator (Aire)-deficient mice.
Milićević Z, Milićević NM, Laan M, Peterson P, Kisand K, Scott HS, Westermann J
Immunol Cell Biol. 2010
PubMed ID: 19721455
Autoimmune regulator deficiency results in decreased expression of CCR4 and CCR7 ligands and in delayed migration of CD4+ thymocytes.
Laan M, Kisand K, Kont V, Möll K, Tserel L, Scott HS, Peterson P
J Immunol. 2009
PubMed ID: 19923453
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. 2009
PubMed ID: 19744957
Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance.
Shum AK, DeVoss J, Tan CL, Hou Y, Johannes K, O'Gorman CS, Jones KD, Sochett EB, Fong L, Anderson MS
Sci Transl Med. 2009
PubMed ID: 20368189
A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Yokoyama S, Ito Y, Ueno-Kudoh H, Shimizu H, Uchibe K, Albini S, Mitsuoka K, Miyaki S, Kiso M, Nagai A, Hikata T, Osada T, Fukuda N, Yamashita S, Harada D, Mezzano V, Kasai M, Puri PL, Hayashizaki Y, Okado H, Hashimoto M, Asahara H
Dev Cell. 2009
PubMed ID: 20059953
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
Faiyaz-Ul-Haque M, Bin-Abbas B, Al-Abdullatif A, Abdullah Abalkhail H, Toulimat M, Al-Gazlan S, Almutawa AM, Al-Sagheir A, Peltekova I, Al-Dayel F, Zaidi SH
Clin Genet. 2009
PubMed ID: 19758376
Lessons from thymic epithelial heterogeneity: FoxN1 and tissue-restricted gene expression by extrathymic, endodermally derived epithelium.
Dooley J, Erickson M, Farr AG
J Immunol. 2009
PubMed ID: 19786540
An aberrant prostate antigen-specific immune response causes prostatitis in mice and is associated with chronic prostatitis in humans.
Hou Y, DeVoss J, Dao V, Kwek S, Simko JP, McNeel DG, Anderson MS, Fong L
J Clin Invest. 2009
PubMed ID: 19603556
Neonatal tolerance revisited: a perinatal window for Aire control of autoimmunity.
Guerau-de-Arellano M, Martinic M, Benoist C, Mathis D
J Exp Med. 2009
PubMed ID: 19487417
Autoimmune regulator controls T cell help for pathogenetic autoantibody production in collagen-induced arthritis.
Campbell IK, Kinkel SA, Drake SF, van Nieuwenhuijze A, Hubert FX, Tarlinton DM, Heath WR, Scott HS, Wicks IP
Arthritis Rheum. 2009
PubMed ID: 19479827
Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
Shikama N, Nusspaumer G, Holländer GA
Endocrinol Metab Clin North Am. 2009
PubMed ID: 19328411
Studies in mice deficient for the autoimmune regulator (Aire) and transgenic for the thyrotropin receptor reveal a role for Aire in tolerance for thyroid autoantigens.
Misharin AV, Nagayama Y, Aliesky HA, Rapoport B, McLachlan SM
Endocrinology. 2009
PubMed ID: 19264867
Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.
Chakravarty S, Zeng L, Zhou MM
Structure. 2009
PubMed ID: 19446523
Lineage-specific biology revealed by a finished genome assembly of the mouse.
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP, Mouse Genome Sequencing Consortium
PLoS Biol. 2009
PubMed ID: 19468303
The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation.
Chignola F, Gaetani M, Rebane A, Org T, Mollica L, Zucchelli C, Spitaleri A, Mannella V, Peterson P, Musco G
Nucleic Acids Res. 2009
PubMed ID: 19293276
Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice.
Milićević NM, Milićević Z, Miljković MD, Labudović-Borović M, Laan M, Peterson P, Kisand K, Scott HS, Qu N, Westermann J
Histochem Cell Biol. 2009
PubMed ID: 19148669
AIRE gene analysis in children with autoimmune hepatitis type I or II.
Lankisch TO, Mourier O, Sokal EM, Habes D, Lacaille F, Bridoux-Henno L, Hermeziu B, Lenaerts C, Strassburg CP, Jacquemin E
J Pediatr Gastroenterol Nutr. 2009
PubMed ID: 19322061
Gene expression profile of the third pharyngeal pouch reveals role of mesenchymal MafB in embryonic thymus development.
Sultana DA, Tomita S, Hamada M, Iwanaga Y, Kitahama Y, Khang NV, Hirai S, Ohigashi I, Nitta S, Amagai T, Takahashi S, Takahama Y
Blood. 2009
PubMed ID: 19164599
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.
Hubert FX, Kinkel SA, Crewther PE, Cannon PZ, Webster KE, Link M, Uibo R, O'Bryan MK, Meager A, Forehan SP, Smyth GK, Mittaz L, Antonarakis SE, Peterson P, Heath WR, Scott HS
J Immunol. 2009
PubMed ID: 19265170
Reduced thymic Aire expression and abnormal NF-kappa B2 signaling in a model of systemic autoimmunity.
Fletcher AL, Seach N, Reiseger JJ, Lowen TE, Hammett MV, Scott HS, Boyd RL
J Immunol. 2009
PubMed ID: 19234163
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. 2009
PubMed ID: 19124002
Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy.
Valenzise M, Meloni A, Betterle C, Giometto B, Autunno M, Mazzeo A, Cao A, De Luca F
Eur J Pediatr. 2009
PubMed ID: 18461357
The proinflammatory cytokine TNF-alpha -308 AA genotype is associated with polyglandular autoimmunity.
Dittmar M, Kaczmarczyk A, Bischofs C, Kahaly GJ
Immunol Invest. 2009
PubMed ID: 19811436
Immune profile of squamous metaplasia development in autoimmune regulator-deficient dry eye.
Chen YT, Li S, Nikulina K, Porco T, Gallup M, McNamara N
Mol Vis. 2009
PubMed ID: 19365590
gammadelta T cells develop independently of Aire.
Tuovinen H, Pöntynen N, Gylling M, Kekäläinen E, Perheentupa J, Miettinen A, Arstila TP
Cell Immunol. 2009
PubMed ID: 19261265
Aire and Foxp3 expression in a particular microenvironment for T cell differentiation.
Hansenne I, Louis C, Martens H, Dorban G, Charlet-Renard C, Peterson P, Geenen V
Neuroimmunomodulation. 2009
PubMed ID: 19077444
AIRE regulates T-cell-independent B-cell responses through BAFF.
Lindh E, Lind SM, Lindmark E, Hässler S, Perheentupa J, Peltonen L, Winqvist O, Karlsson MC
Proc Natl Acad Sci U S A. 2008
PubMed ID: 19011083
Aire controls the differentiation program of thymic epithelial cells in the medulla for the establishment of self-tolerance.
Yano M, Kuroda N, Han H, Meguro-Horike M, Nishikawa Y, Kiyonari H, Maemura K, Yanagawa Y, Obata K, Takahashi S, Ikawa T, Satoh R, Kawamoto H, Mouri Y, Matsumoto M
J Exp Med. 2008
PubMed ID: 19015306
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.
Podkrajsek KT, Milenković T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T, Battelino T
Eur J Endocrinol. 2008
PubMed ID: 18682433
Alterations of the medullary epithelial compartment in the Aire-deficient thymus: implications for programs of thymic epithelial differentiation.
Dooley J, Erickson M, Farr AG
J Immunol. 2008
PubMed ID: 18832676
Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity.
Koh AS, Kuo AJ, Park SY, Cheung P, Abramson J, Bua D, Carney D, Shoelson SE, Gozani O, Kingston RE, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18840680
Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated.
Villaseñor J, Besse W, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18836079
NKT cell development in the absence of the autoimmune regulator gene (Aire).
Pitt LA, Hubert FX, Scott HS, Godfrey DI, Berzins SP
Eur J Immunol. 2008
PubMed ID: 18828139
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Hansen GM, Markesich DC, Burnett MB, Zhu Q, Dionne KM, Richter LJ, Finnell RH, Sands AT, Zambrowicz BP, Abuin A
Genome Res. 2008
PubMed ID: 18799693
Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes.
Kisand K, Link M, Wolff AS, Meager A, Tserel L, Org T, Murumägi A, Uibo R, Willcox N, Trebusak Podkrajsek K, Battelino T, Lobell A, Kämpe O, Lima K, Meloni A, Ergun-Longmire B, Maclaren NK, Perheentupa J, Krohn KJ, Scott HS, Husebye ES, Peterson P
Blood. 2008
PubMed ID: 18606876
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. 2008
PubMed ID: 18600308
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1.
Devoss JJ, Shum AK, Johannes KP, Lu W, Krawisz AK, Wang P, Yang T, Leclair NP, Austin C, Strauss EC, Anderson MS
J Immunol. 2008
PubMed ID: 18768863
B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: A therapeutic approach for APECED patients.
Gavanescu I, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18755889
The tumor necrosis factor family receptors RANK and CD40 cooperatively establish the thymic medullary microenvironment and self-tolerance.
Akiyama T, Shimo Y, Yanai H, Qin J, Ohshima D, Maruyama Y, Asaumi Y, Kitazawa J, Takayanagi H, Penninger JM, Matsumoto M, Nitta T, Takahama Y, Inoue J
Immunity. 2008
PubMed ID: 18799149
Deletional tolerance mediated by extrathymic Aire-expressing cells.
Gardner JM, Devoss JJ, Friedman RS, Wong DJ, Tan YX, Zhou X, Johannes KP, Su MA, Chang HY, Krummel MF, Anderson MS
Science. 2008
PubMed ID: 18687966
Infrequent and low AIRE expression in thymoma: difference in AIRE expression among WHO subtypes does not correlate with association of MG.
Suzuki E, Kobayashi Y, Yano M, Fujii Y
Autoimmunity. 2008
PubMed ID: 18568643
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. 2008
PubMed ID: 18616774
Ltbetar signaling does not regulate Aire-dependent transcripts in medullary thymic epithelial cells.
Martins VC, Boehm T, Bleul CC
J Immunol. 2008
PubMed ID: 18566406
Evaluation of the AIRE gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, De Luca F, Valenzise M, Giordano R, Rizzo D, Giordano C, Betterle C
Clin Endocrinol (Oxf). 2008
PubMed ID: 18616706
Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire.
Su MA, Giang K, Zumer K, Jiang H, Oven I, Rinn JL, Devoss JJ, Johannes KP, Lu W, Gardner J, Chang A, Bubulya P, Chang HY, Peterlin BM, Anderson MS
J Clin Invest. 2008
PubMed ID: 18414681
Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input.
White AJ, Withers DR, Parnell SM, Scott HS, Finke D, Lane PJ, Jenkinson EJ, Anderson G
Eur J Immunol. 2008
PubMed ID: 18350550
The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.
Org T, Chignola F, Hetényi C, Gaetani M, Rebane A, Liiv I, Maran U, Mollica L, Bottomley MJ, Musco G, Peterson P
EMBO Rep. 2008
PubMed ID: 18292755
GUDMAP: the genitourinary developmental molecular anatomy project.
McMahon AP, Aronow BJ, Davidson DR, Davies JA, Gaido KW, Grimmond S, Lessard JL, Little MH, Potter SS, Wilder EL, Zhang P, GUDMAP project
J Am Soc Nephrol. 2008
PubMed ID: 18287559
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. 2008
PubMed ID: 18083234
A specific anti-Aire antibody reveals aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery.
Hubert FX, Kinkel SA, Webster KE, Cannon P, Crewther PE, Proeitto AI, Wu L, Heath WR, Scott HS
J Immunol. 2008
PubMed ID: 18322189
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. 2008
PubMed ID: 18324482
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.
Bøe Wolff AS, Oftedal B, Johansson S, Bruland O, Løvås K, Meager A, Pedersen C, Husebye ES, Knappskog PM
Genes Immun. 2008
PubMed ID: 18200029
Genetic analysis of autoimmune regulator haplotypes in alopecia areata.
Wengraf DA, McDonagh AJ, Lovewell TR, Vasilopoulos Y, Macdonald-Hull SP, Cork MJ, Messenger AG, Tazi-Ahnini R
Tissue Antigens. 2008
PubMed ID: 18194361
Toward a confocal subcellular atlas of the human proteome.
Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H
Mol Cell Proteomics. 2008
PubMed ID: 18029348
A novel mutation associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Bhui RD, Lewis DB, Nadeau KC
Ann Allergy Asthma Immunol. 2008
PubMed ID: 18320920
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. 2008
PubMed ID: 18209027
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
Meloni A, Incani F, Corda D, Cao A, Rosatelli MC
Mol Immunol. 2008
PubMed ID: 17675238
AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.
Ferguson BJ, Alexander C, Rossi SW, Liiv I, Rebane A, Worth CL, Wong J, Laan M, Peterson P, Jenkinson EJ, Anderson G, Scott HS, Cooke A, Rich T
J Biol Chem. 2008
PubMed ID: 17974569
Small proline-rich protein 1B (SPRR1B) is a biomarker for squamous metaplasia in dry eye disease.
Li S, Nikulina K, DeVoss J, Wu AJ, Strauss EC, Anderson MS, McNamara NA
Invest Ophthalmol Vis Sci. 2008
PubMed ID: 18172072
DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activity.
Liiv I, Rebane A, Org T, Saare M, Maslovskaja J, Kisand K, Juronen E, Valmu L, Bottomley MJ, Kalkkinen N, Peterson P
Biochim Biophys Acta. 2008
PubMed ID: 17997173
Modulation of Aire regulates the expression of tissue-restricted antigens.
Kont V, Laan M, Kisand K, Merits A, Scott HS, Peterson P
Mol Immunol. 2008
PubMed ID: 17599412
Lymphotoxin beta receptor is required for the migration and selection of autoreactive T cells in thymic medulla.
Zhu M, Chin RK, Tumanov AV, Liu X, Fu YX
J Immunol. 2007
PubMed ID: 18056347
AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells.
Oven I, Brdicková N, Kohoutek J, Vaupotic T, Narat M, Peterlin BM
Mol Cell Biol. 2007
PubMed ID: 17938200
Graft-versus-host-like disease complicating thymoma: lack of AIRE expression as a cause of non-hereditary autoimmunity?
Offerhaus GJ, Schipper ME, Lazenby AJ, Montgomery E, Morsink FH, Bende RJ, Musler AR, van Lier RA, van Noesel CJ
Immunol Lett. 2007
PubMed ID: 17928069
Danger-free autoimmune disease in Aire-deficient mice.
Gray DH, Gavanescu I, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2007
PubMed ID: 17991771
Developmental pathway of CD4+CD8- medullary thymocytes during mouse ontogeny and its defect in Aire-/- mice.
Li J, Li Y, Yao JY, Jin R, Zhu MZ, Qian XP, Zhang J, Fu YX, Wu L, Zhang Y, Chen WF
Proc Natl Acad Sci U S A. 2007
PubMed ID: 17984055
Lymphotoxin pathway and Aire influences on thymic medullary epithelial cells are unconnected.
Venanzi ES, Gray DH, Benoist C, Mathis D
J Immunol. 2007
PubMed ID: 17947641
Proliferative arrest and rapid turnover of thymic epithelial cells expressing Aire.
Gray D, Abramson J, Benoist C, Mathis D
J Exp Med. 2007
PubMed ID: 17908938
Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE.
Jin Y, Bennett DC, Amadi-Myers A, Holland P, Riccardi SL, Gowan K, Fain PR, Spritz RA
Pigment Cell Res. 2007
PubMed ID: 17850514
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
Giraud M, Taubert R, Vandiedonck C, Ke X, Lévi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ
Nature. 2007
PubMed ID: 17687331
Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome.
Old RW, Crea F, Puszyk W, Hultén MA
Reprod Biomed Online. 2007
PubMed ID: 17697502
The autoimmune regulator directly controls the expression of genes critical for thymic epithelial function.
Ruan QG, Tung K, Eisenman D, Setiady Y, Eckenrode S, Yi B, Purohit S, Zheng WP, Zhang Y, Peltonen L, She JX
J Immunol. 2007
PubMed ID: 17513766
Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
Wu C, Ma MH, Brown KR, Geisler M, Li L, Tzeng E, Jia CY, Jurisica I, Li SS
Proteomics. 2007
PubMed ID: 17474147
Limited peripheral T cell anergy predisposes to retinal autoimmunity.
Lambe T, Leung JC, Ferry H, Bouriez-Jones T, Makinen K, Crockford TL, Jiang HR, Nickerson JM, Peltonen L, Forrester JV, Cornall RJ
J Immunol. 2007
PubMed ID: 17371984
Selection of Foxp3+ regulatory T cells specific for self antigen expressed and presented by Aire+ medullary thymic epithelial cells.
Aschenbrenner K, D'Cruz LM, Vollmann EH, Hinterberger M, Emmerich J, Swee LK, Rolink A, Klein L
Nat Immunol. 2007
PubMed ID: 17322887
Loss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity.
Gavanescu I, Kessler B, Ploegh H, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2007
PubMed ID: 17360567
Aire-dependent alterations in medullary thymic epithelium indicate a role for Aire in thymic epithelial differentiation.
Gillard GO, Dooley J, Erickson M, Peltonen L, Farr AG
J Immunol. 2007
PubMed ID: 17312146
Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin.
Hamazaki Y, Fujita H, Kobayashi T, Choi Y, Scott HS, Matsumoto M, Minato N
Nat Immunol. 2007
PubMed ID: 17277780
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.
Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, Fougner KJ, Lima K, Knappskog PM, Husebye ES
J Clin Endocrinol Metab. 2007
PubMed ID: 17118990
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.
Ferrera F, Rizzi M, Sprecacenere B, Balestra P, Sessarego M, Di Carlo A, Filaci G, Gabrielli A, Ravazzolo R, Indiveri F
Clin Immunol. 2007
PubMed ID: 17101293
Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens.
Brännström J, Hässler S, Peltonen L, Herrmann B, Winqvist O
Clin Immunol. 2006
PubMed ID: 16982213
Spontaneous autoimmunity prevented by thymic expression of a single self-antigen.
DeVoss J, Hou Y, Johannes K, Lu W, Liou GI, Rinn J, Chang H, Caspi RR, Caspi R, Fong L, Anderson MS
J Exp Med. 2006
PubMed ID: 17116738
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.
Dominguez M, Crushell E, Ilmarinen T, McGovern E, Collins S, Chang B, Fleming P, Irvine AD, Brosnahan D, Ulmanen I, Murphy N, Costigan C
J Pediatr Endocrinol Metab. 2006
PubMed ID: 17220063
NF-kappaB2 is required for the establishment of central tolerance through an Aire-dependent pathway.
Zhu M, Chin RK, Christiansen PA, Lo JC, Liu X, Ware C, Siebenlist U, Fu YX
J Clin Invest. 2006
PubMed ID: 17039258
Ets transcription factors regulate AIRE gene promoter.
Murumägi A, Silvennoinen O, Peterson P
Biochem Biophys Res Commun. 2006
PubMed ID: 16890195
Aire-deficient mice develop hematopoetic irregularities and marginal zone B-cell lymphoma.
Hässler S, Ramsey C, Karlsson MC, Larsson D, Herrmann B, Rozell B, Backheden M, Peltonen L, Kämpe O, Winqvist O
Blood. 2006
PubMed ID: 16709926
Aire deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients.
Pöntynen N, Miettinen A, Arstila TP, Kämpe O, Alimohammadi M, Vaarala O, Peltonen L, Ulmanen I
J Autoimmun. 2006
PubMed ID: 16820279
Lymphotoxin pathway-directed, autoimmune regulator-independent central tolerance to arthritogenic collagen.
Chin RK, Zhu M, Christiansen PA, Liu W, Ware C, Peltonen L, Zhang X, Guo L, Han S, Zheng B, Fu YX
J Immunol. 2006
PubMed ID: 16785524
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, Nöthen MM, Betz RC
Tissue Antigens. 2006
PubMed ID: 16774540
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Magdaleno S, Jensen P, Brumwell CL, Seal A, Lehman K, Asbury A, Cheung T, Cornelius T, Batten DM, Eden C, Norland SM, Rice DS, Dosooye N, Shakya S, Mehta P, Curran T
PLoS Biol. 2006
PubMed ID: 16602821
Increased antigen presenting cell-mediated T cell activation in mice and patients without the autoimmune regulator.
Ramsey C, Hässler S, Marits P, Kämpe O, Surh CD, Peltonen L, Winqvist O
Eur J Immunol. 2006
PubMed ID: 16421949
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. 2006
PubMed ID: 16310047
How defects in central tolerance impinge on a deficiency in regulatory T cells.
Chen Z, Benoist C, Mathis D
Proc Natl Acad Sci U S A. 2005
PubMed ID: 16203996
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
Ilmarinen T, Eskelin P, Halonen M, Rüppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I
Hum Mutat. 2005
PubMed ID: 16114041
Antisense transcription in the mammalian transcriptome.
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C, RIKEN Genome Exploration Research Group, Genome Science Group (Genome Network Project Core Group), FANTOM Consortium
Science. 2005
PubMed ID: 16141073
The transcriptional landscape of the mammalian genome.
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Science. 2005
PubMed ID: 16141072
Cooperative activation of transcription by autoimmune regulator AIRE and CBP.
Pitkänen J, Rebane A, Rowell J, Murumägi A, Ströbel P, Möll K, Saare M, Heikkilä J, Doucas V, Marx A, Peterson P
Biochem Biophys Res Commun. 2005
PubMed ID: 15964547
The cellular mechanism of Aire control of T cell tolerance.
Anderson MS, Venanzi ES, Chen Z, Berzins SP, Benoist C, Mathis D
Immunity. 2005
PubMed ID: 16111640
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. 2005
PubMed ID: 15886230
Mitogen-activated protein kinase pathway controls autoimmune regulator (AIRE) gene expression in granulo-monocyte colony stimulating factor (GM-CSF)-stimulated myelomonocytic leukemia OTC-4 cells.
Nagafuchi S, Katsuta H, Ohno Y, Inoue Y, Shimoda K, Kogawa K, Ikeda Y, Koyanagi-Katsuta R, Yamasaki S, Tominaga H, Tamiya S, Umemura T, Otsuka T, Miyamoto T, Otsuka T, Harada M, Kudoh J, Shimizu N
Immunol Lett. 2005
PubMed ID: 15894121
Dependence of self-tolerance on TRAF6-directed development of thymic stroma.
Akiyama T, Maeda S, Yamane S, Ogino K, Kasai M, Kajiura F, Matsumoto M, Inoue J
Science. 2005
PubMed ID: 15705807
A genetic contamination in MHC-congenic mouse strains reveals a locus on chromosome 10 that determines autoimmunity and arthritis susceptibility.
Nandakumar KS, Holmdahl R
Eur J Immunol. 2005
PubMed ID: 15761851
NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.
Bottomley MJ, Stier G, Pennacchini D, Legube G, Simon B, Akhtar A, Sattler M, Musco G
J Biol Chem. 2005
PubMed ID: 15649886
Two novel mutations of the AIRE protein affecting its homodimerization properties.
Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC
Hum Mutat. 2005
PubMed ID: 15712268
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R
J Clin Invest. 2005
PubMed ID: 15696198
Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice.
Kuroda N, Mitani T, Takeda N, Ishimaru N, Arakaki R, Hayashi Y, Bando Y, Izumi K, Takahashi T, Nomura T, Sakaguchi S, Ueno T, Takahama Y, Uchida D, Sun S, Kajiura F, Mouri Y, Han H, Matsushima A, Yamada G, Matsumoto M
J Immunol. 2005
PubMed ID: 15699112
Mouse brain organization revealed through direct genome-scale TF expression analysis.
Gray PA, Fu H, Luo P, Zhao Q, Yu J, Ferrari A, Tenzen T, Yuk DI, Tsung EF, Cai Z, Alberta JA, Cheng LP, Liu Y, Stenman JM, Valerius MT, Billings N, Kim HA, Greenberg ME, McMahon AP, Rowitch DH, Stiles CD, Ma Q
Science. 2004
PubMed ID: 15618518
Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage.
Sillanpää N, Magureanu CG, Murumägi A, Reinikainen A, West A, Manninen A, Lahti M, Ranki A, Saksela K, Krohn K, Lahesmaa R, Peterson P
Mol Immunol. 2004
PubMed ID: 15482854
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
Genome Res. 2004
PubMed ID: 15489334
Subcellular expression of autoimmune regulator is organized in a spatiotemporal manner.
Akiyoshi H, Hatakeyama S, Pitkänen J, Mouri Y, Doucas V, Kudoh J, Tsurugaya K, Uchida D, Matsushima A, Oshikawa K, Nakayama KI, Shimizu N, Peterson P, Matsumoto M
J Biol Chem. 2004
PubMed ID: 15150263
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
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Nature. 2004
PubMed ID: 15057822
Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.
Ruan QG, She JX
Clin Lab Med. 2004
PubMed ID: 15157567
APECED-causing mutations in AIRE reveal the functional domains of the protein.
Halonen M, Kangas H, Rüppell T, Ilmarinen T, Ollila J, Kolmer M, Vihinen M, Palvimo J, Saarela J, Ulmanen I, Eskelin P
Hum Mutat. 2004
PubMed ID: 14974083
AIRE functions as an E3 ubiquitin ligase.
Uchida D, Hatakeyama S, Matsushima A, Han H, Ishido S, Hotta H, Kudoh J, Shimizu N, Doucas V, Nakayama KI, Kuroda N, Matsumoto M
J Exp Med. 2004
PubMed ID: 14734522
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT
Proc Natl Acad Sci U S A. 2003
PubMed ID: 14610273
P300/CBP acts as a coactivator to cartilage homeoprotein-1 (Cart1), paired-like homeoprotein, through acetylation of the conserved lysine residue adjacent to the homeodomain.
Iioka T, Furukawa K, Yamaguchi A, Shindo H, Yamashita S, Tsukazaki T
J Bone Miner Res. 2003
PubMed ID: 12929931
Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter.
Murumägi A, Vähämurto P, Peterson P
J Biol Chem. 2003
PubMed ID: 12651856
Aire regulates negative selection of organ-specific T cells.
Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC
Nat Immunol. 2003
PubMed ID: 12612579
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC, Ferrin TE
Nucleic Acids Res. 2003
PubMed ID: 12520002
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA, Mammalian Gene Collection Program Team
Proc Natl Acad Sci U S A. 2002
PubMed ID: 12477932
A gene expression map of human chromosome 21 orthologues in the mouse.
Gitton Y, Dahmane N, Baik S, Ruiz i Altaba A, Neidhardt L, Scholze M, Herrmann BG, Kahlem P, Benkahla A, Schrinner S, Yildirimman R, Herwig R, Lehrach H, Yaspo ML, HSA21 expression map initiative
Nature. 2002
PubMed ID: 12466855
Human chromosome 21 gene expression atlas in the mouse.
Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A
Nature. 2002
PubMed ID: 12466854
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Okazaki Y, Furuno M, Kasukawa T, Adachi J, Bono H, Kondo S, Nikaido I, Osato N, Saito R, Suzuki H, Yamanaka I, Kiyosawa H, Yagi K, Tomaru Y, Hasegawa Y, Nogami A, Schönbach C, Gojobori T, Baldarelli R, Hill DP, Bult C, Hume DA, Quackenbush J, Schriml LM, Kanapin A, Matsuda H, Batalov S, Beisel KW, Blake JA, Bradt D, Brusic V, Chothia C, Corbani LE, Cousins S, Dalla E, Dragani TA, Fletcher CF, Forrest A, Frazer KS, Gaasterland T, Gariboldi M, Gissi C, Godzik A, Gough J, Grimmond S, Gustincich S, Hirokawa N, Jackson IJ, Jarvis ED, Kanai A, Kawaji H, Kawasawa Y, Kedzierski RM, King BL, Konagaya A, Kurochkin IV, Lee Y, Lenhard B, Lyons PA, Maglott DR, Maltais L, Marchionni L, McKenzie L, Miki H, Nagashima T, Numata K, Okido T, Pavan WJ, Pertea G, Pesole G, Petrovsky N, Pillai R, Pontius JU, Qi D, Ramachandran S, Ravasi T, Reed JC, Reed DJ, Reid J, Ring BZ, Ringwald M, Sandelin A, Schneider C, Semple CA, Setou M, Shimada K, Sultana R, Takenaka Y, Taylor MS, Teasdale RD, Tomita M, Verardo R, Wagner L, Wahlestedt C, Wang Y, Watanabe Y, Wells C, Wilming LG, Wynshaw-Boris A, Yanagisawa M, Yang I, Yang L, Yuan Z, Zavolan M, Zhu Y, Zimmer A, Carninci P, Hayatsu N, Hirozane-Kishikawa T, Konno H, Nakamura M, Sakazume N, Sato K, Shiraki T, Waki K, Kawai J, Aizawa K, Arakawa T, Fukuda S, Hara A, Hashizume W, Imotani K, Ishii Y, Itoh M, Kagawa I, Miyazaki A, Sakai K, Sasaki D, Shibata K, Shinagawa A, Yasunishi A, Yoshino M, Waterston R, Lander ES, Rogers J, Birney E, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group Phase I & II Team
Nature. 2002
PubMed ID: 12466851
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.
Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K
Endocr J. 2002
PubMed ID: 12625412
Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis.
Tazi-Ahnini R, Cork MJ, Gawkrodger DJ, Birch MP, Wengraf D, McDonagh AJ, Messenger AG
Tissue Antigens. 2002
PubMed ID: 12542742
Projection of an immunological self shadow within the thymus by the aire protein.
Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C, Mathis D
Science. 2002
PubMed ID: 12376594
Expression of AIRE gene in peripheral monocyte/dendritic cell lineage.
Kogawa K, Nagafuchi S, Katsuta H, Kudoh J, Tamiya S, Sakai Y, Shimizu N, Harada M
Immunol Lett. 2002
PubMed ID: 11803052
Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.
Ramsey C, Winqvist O, Puhakka L, Halonen M, Moro A, Kämpe O, Eskelin P, Pelto-Huikko M, Peltonen L
Hum Mol Genet. 2002
PubMed ID: 11854172
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC
J Clin Endocrinol Metab. 2002
PubMed ID: 11836330
The autoimmune regulator (AIRE) is a DNA-binding protein.
Kumar PG, Laloraya M, Wang CY, Ruan QG, Davoodi-Semiromi A, Kao KJ, She JX
J Biol Chem. 2001
PubMed ID: 11533054
A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.
Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C
J Clin Endocrinol Metab. 2001
PubMed ID: 11600535
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, Halász Z, Blümel P, Tawfik S, Krohn K, Lebl J, Peterson P
Hum Mutat. 2001
PubMed ID: 11524733
Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.
Pitkänen J, Vähämurto P, Krohn K, Peterson P
J Biol Chem. 2001
PubMed ID: 11274163
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, Frébourg T, Lefebvre H
Eur J Endocrinol. 2001
PubMed ID: 11275943
The sequence of the human genome.
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Science. 2001
PubMed ID: 11181995
Functional annotation of a full-length mouse cDNA collection.
Kawai J, Shinagawa A, Shibata K, Yoshino M, Itoh M, Ishii Y, Arakawa T, Hara A, Fukunishi Y, Konno H, Adachi J, Fukuda S, Aizawa K, Izawa M, Nishi K, Kiyosawa H, Kondo S, Yamanaka I, Saito T, Okazaki Y, Gojobori T, Bono H, Kasukawa T, Saito R, Kadota K, Matsuda H, Ashburner M, Batalov S, Casavant T, Fleischmann W, Gaasterland T, Gissi C, King B, Kochiwa H, Kuehl P, Lewis S, Matsuo Y, Nikaido I, Pesole G, Quackenbush J, Schriml LM, Staubli F, Suzuki R, Tomita M, Wagner L, Washio T, Sakai K, Okido T, Furuno M, Aono H, Baldarelli R, Barsh G, Blake J, Boffelli D, Bojunga N, Carninci P, de Bonaldo MF, Brownstein MJ, Bult C, Fletcher C, Fujita M, Gariboldi M, Gustincich S, Hill D, Hofmann M, Hume DA, Kamiya M, Lee NH, Lyons P, Marchionni L, Mashima J, Mazzarelli J, Mombaerts P, Nordone P, Ring B, Ringwald M, Rodriguez I, Sakamoto N, Sasaki H, Sato K, Schönbach C, Seya T, Shibata Y, Storch KF, Suzuki H, Toyo-oka K, Wang KH, Weitz C, Whittaker C, Wilming L, Wynshaw-Boris A, Yoshida K, Hasegawa Y, Kawaji H, Kohtsuki S, Hayashizaki Y, RIKEN Genome Exploration Research Group Phase II Team and the FANTOM Consortium
Nature. 2001
PubMed ID: 11217851
Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).
Halonen M, Pelto-Huikko M, Eskelin P, Peltonen L, Ulmanen I, Kolmer M
J Histochem Cytochem. 2001
PubMed ID: 11156688
RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Shibata K, Itoh M, Aizawa K, Nagaoka S, Sasaki N, Carninci P, Konno H, Akiyama J, Nishi K, Kitsunai T, Tashiro H, Itoh M, Sumi N, Ishii Y, Nakamura S, Hazama M, Nishine T, Harada A, Yamamoto R, Matsumoto H, Sakaguchi S, Ikegami T, Kashiwagi K, Fujiwake S, Inoue K, Togawa Y
Genome Res. 2000
PubMed ID: 11076861
Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Carninci P, Shibata Y, Hayatsu N, Sugahara Y, Shibata K, Itoh M, Konno H, Okazaki Y, Muramatsu M, Hayashizaki Y
Genome Res. 2000
PubMed ID: 11042159
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, Holländer GA
J Immunol. 2000
PubMed ID: 10925280
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
Pitkänen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vähämurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn K, Peterson P
J Biol Chem. 2000
PubMed ID: 10748110
The DNA sequence of human chromosome 21.
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML, Chromosome 21 mapping and sequencing consortium
Nature. 2000
PubMed ID: 10830953
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family.
Aapola U, Kawasaki K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE, Shimizu N, Kudoh J, Peterson P
Genomics. 2000
PubMed ID: 10857753
Genetic analysis of the influence of pertussis toxin on experimental allergic encephalomyelitis susceptibility: an environmental agent can override genetic checkpoints.
Blankenhorn EP, Butterfield RJ, Rigby R, Cort L, Giambrone D, McDermott P, McEntee K, Solowski N, Meeker ND, Zachary JF, Doerge RW, Teuscher C
J Immunol. 2000
PubMed ID: 10706738
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L
Am J Hum Genet. 2000
PubMed ID: 10677297
Targeting genes and proteins in the analysis of learning and memory: caveats and future directions.
Gerlai R
Rev Neurosci. 2000
PubMed ID: 10716651
Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.
Wiltshire T, Pletcher M, Cole SE, Villanueva M, Birren B, Lehoczky J, Dewar K, Reeves RH
Genome Res. 1999
PubMed ID: 10613844
Expression and alternative splicing of the mouse autoimmune regulator gene (Aire).
Ruan QG, Wang CY, Shi JD, She JX
J Autoimmun. 1999
PubMed ID: 10550218
Isolation and characterization of the mouse Aire gene.
Mittaz L, Rossier C, Heino M, Peterson P, Krohn KJ, Gos A, Morris MA, Kudoh J, Shimizu N, Antonarakis SE, Scott HS
Biochem Biophys Res Commun. 1999
PubMed ID: 10049735
AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.
Rinderle C, Christensen HM, Schweiger S, Lehrach H, Yaspo ML
Hum Mol Genet. 1999
PubMed ID: 9931335
Localization of the APECED protein in distinct nuclear structures.
Björses P, Pelto-Huikko M, Kaukonen J, Aaltonen J, Peltonen L, Ulmanen I
Hum Mol Genet. 1999
PubMed ID: 9931333
Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1).
Wang CY, Shi JD, Davoodi-Semiromi A, She JX
Genomics. 1999
PubMed ID: 10049587
The mouse Aire gene: comparative genomic sequencing, gene organization, and expression.
Blechschmidt K, Schweiger M, Wertz K, Poulson R, Christensen HM, Rosenthal A, Lehrach H, Yaspo ML
Genome Res. 1999
PubMed ID: 10022980
Mutation analyses of North American APS-1 patients.
Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K
Hum Mutat. 1999
PubMed ID: 9888391
Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire).
Shi JD, Wang CY, Marron MP, Ruan QG, Huang YQ, Detter JC, She JX
Autoimmunity. 1999
PubMed ID: 10593569
High-efficiency full-length cDNA cloning.
Carninci P, Hayashizaki Y
Methods Enzymol. 1999
PubMed ID: 10349636
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).
Wang CY, Davoodi-Semiromi A, Huang W, Connor E, Shi JD, She JX
Hum Genet. 1998
PubMed ID: 9921903
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJ, Antonarakis SE
Mol Endocrinol. 1998
PubMed ID: 9717837
Gene defect behind APECED: a new clue to autoimmunity.
Björses P, Aaltonen J, Horelli-Kuitunen N, Yaspo ML, Peltonen L
Hum Mol Genet. 1998
PubMed ID: 9735375
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
Finnish-German APECED Consortium
Nat Genet. 1997
PubMed ID: 9398840
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. 1997
PubMed ID: 9398839
High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.
Aaltonen J, Horelli-Kuitunen N, Fan JB, Björses P, Perheentupa J, Myers R, Palotie A, Peltonen L
Genome Res. 1997
PubMed ID: 9267805
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.
Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L
Nat Genet. 1994
PubMed ID: 7987397

Model Organism Phenotype Links from MGI Top Help

Model Organism Phenotype Links

External Links Top Help

	Human	Mouse	Rat
Entrez Gene	326	11634	294328
EnsEMBL Gene(s)	ENSG00000160224 LRG_18	ENSMUSG00000000731	ENSRNOG00000001213
Unigene	Hs.129829	Mm.35300	Rn.218492
Homologene	AIRE	Aire	Aire
OMIM	607358	N/A	N/A
GeneCards	AIRE	N/A	N/A
Beta Cell Genomics	DT.410658 DT.410659 DT.91753522	DT.101310619 DT.110596681 DT.484103 DT.55263294 DT.87051928 DT.87051929	N/A
Reactome	N/A	N/A	N/A
Plasma Peptide Atlas	N/A	N/A	N/A
WikiGenes	326	11634	294328

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