Property Summary

NCBI Gene PubMed Count 156
PubMed Score 885.53
PubTator Score 699.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -2.100 4.0e-32

 GO Component (2)

 GWAS Trait (1)

Gene RIF (143)

PMID Text
27264825 The rs2075876 and rs760426 loci of the AIRE gene are associated with increased risk for rheumatoid arthritis among ethnic Han Chinese from ShaanXi.
27072778 androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity.
27048654 This study supports the notion that AIRE mutation could specifically affect human insulin gene expression in thymic epithelial cells through INS-VNTR and subsequently induce either insulin tolerance or autoimmunity.
26999605 results indicate that in females, estrogen induces epigenetic changes in the AIRE gene, leading to reduced AIRE expression under a threshold that increases female susceptibility to autoimmune diseases.
26903062 The novel mutation of c.622G>T (p.G208W) in AIRE gene is associated autoimmune polyendocrinopathy syndrome type I.
26607109 In the current study, we demonstrate that AIRE activates the expression of transiently transfected luciferase reporters that lack defined promoter regions, as well as intron and poly(A) signal sequences.
26579596 Molecular characterization of the functional domains of Aire has revealed multiple binding partners that assist Aire's function in altering gene transcription and chromatin remodeling.
26503950 These results suggest that Aire expression is inherent to all medullary thymic epithelial cells (mTECs) but may occur at particular stage(s) and/or cellular states during their differentiation, thus accounting for the broad impact of Aire on the promiscuous gene expression of mTECs.
26168014 Data indicate that autoimmune regulator Aire mRNA transcripts are regulated in a keratin 17 (K17) dependent manner in skin tumor keratinocytes.
26114819 Keratopathy can be an early and severe manifestation of APS1, which contributes to the global prognosis of the disease. Its mechanisms remain to be elucidated.
26084028 disease-causing mutations are more common than previously appreciated and cause more variable autoimmune phenotypes
25978041 AIRE-655GAIRE-230T haplotype could dramatically alter AIRE transcription.
25842288 Deficiency of AIRE partner, PRKDC, can present as an inflammatory disease with organ-specific autoimmunity, suggesting a role for PRKDC in regulating autoimmune responses and maintaining AIRE-dependent tolerance in human subjects.
25637666 genetic polymorphism is associated with development and progression of rheumatoid arthritis in China
25367057 The disease is caused by a homozygous mutation in the AIRE gene mapped to chromosome 21q22.1.
25217160 The findings provide strong evidence for the fundamental role of AIRE and promiscuous gene expression, namely, central tolerance, in the predisposition to autoimmunity of Down syndrome individuals.
25158603 a model in which lysines acetylation increases the stability of AIRE in the nucleus.
25064028 study identified a novel AIRE mutation which alters the intracellular location and transcription activity of AIRE, and has implications in the pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
25038256 the increased AIRE gene dose in DS could contribute to an autoimmune phenotype through multiple AIRE-mediated effects on homeostasis and function of thymic epithelial cells that affect thymic selection processes.
24988226 The study reports a new homozygous splicing mutation in the AIRE intron 5 acceptor (c.653-1G>A, in two patients of a consanguineous Spanish family with different phenotypes of autoimmune polyendocrine syndrome type 1.
24945421 Mutations in the AIRE gene is associated with polyglandular autoimmune syndrome type I.
24708100 these findings implicate AIRE in the promiscuous expression of thyroid proteins in fibrocytes.
24703644 APECED was confirmed by molecular analysis of AIRE gene, which showed two mutations.
24464130 We demonstrated the importance of Aire's interaction with the ATF7ip-MBD1 protein complex in maintaining central tolerance
24275490 Studies indicate that the plant homeodomain 2(PHD2) of autoimmune regulator (AIRE) protein plays a critical role in the activation of gene transcription.
24170308 AIRE rs2075876 and rs760426 polymorphisms were involved in the genetic background of rheumatoid arthritis in the Chinese population.
23954874 it was concluded that miR-220b inhibited the AIRE gene translation through the 3'UTR region of AIRE gene, indicating that miR-220b could serve as a regulator for human AIRE gene translation.
23697860 There are a limited number of cases linking autoimmune retinopathy with a mutation in the AIRE gene.
23643663 in patients with autoimmune non-APECED polyendocrinopathies, heterozygous mutations of the AIRE gene were not detected; however a trend of association was observed, heterozygous polymorphisms S278R and IVS9+6G>A were detected in patients without statistically significant prevalence than in controls
23620608 Eight patients were identified with APECED and all patients were found to be homozygous for the c.964dell3 mutation. A wide clinical variation is apparent within APECED syndrome.
23589212 These findings reveal a mutual interdependence of miRNA and Aire in the regulation of promiscuous gene expression in purified mouse and human thymic epithelial cells
23456700 [review] The C terminus of AIRE does not share obvious homology with functional domains in other proteins but is highly conserved between human and mouse AIRE proteins, serving as a transcriptional activation domain.
23342054 functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1
23320549 Our findings suggest that the AIRE gene is associated with susceptibility to rheumatoid arthritis in the Spanish population
23319629 Data indicate that PHD2 domain is required for Aire to interact with a subset of its partners
23256763 Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model.
23083345 Mutations in AIRE result in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), a rare autosomal recessive disease. (Review)
23077531 Principal component analysis of the covariance matrix of free AIRE-PHD1 highlights the presence of a "flapping" movement, which is blocked in an open conformation upon binding to H3K4me0.
23074189 The results reveal the importance of AIRE-PHD domains in the interaction with chromatin-associated nuclear partners and gene regulation confirming the role of PHD fingers as versatile protein interaction hubs for multiple binding events.
22659170 The results suggest that the AIRE acetylation can influence the selection of AIRE activated genes.
22613203 AIRE-induced apoptosis pathway is associated with GAPDH nuclear translocation and induction of NO-induced cellular stress in AIRE-expressing cells.
22490868 Aire deficiency mediates central tolerance to myelin protein zero and initiates an autoimmune T helper (Th)1 cell effector response toward peripheral nerves.
22447927 polymorphisms within the NOD Ica1 core promoter may determine AIRE-mediated down-regulation of ICA69 expression in medullary thymic epithelial cells.
22377300 Medullary thymic epithelial cells expressing Aire, key mediators in the induction of T-cell tolerance.
22344197 longitudinal study of 22 Sardinian patients with autoimmune polyendocrine syndrome type 1: The major nonsense mutation in AIRE, R139X, was found in 93% of patients; 86.4% of patients are R139X homozygotes.
22310661 AIRE is recruited to tissue restricted antigens genes in chromatin via cooperative interactions with H3K4me0 and DNA-protein kinase
22104652 AIRE gene mutations are associated with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in patients from Apulia and Sicily.
22036612 found that in human AIRE-positive medullary and AIRE-negative cortical epithelium, the AIRE promoter is hypomethylated, whereas in thymocytes, the promoter had high level of CpG methylation
22024611 Mutations in heterozygosity of the AIRE gene are not associated with major findings of autoimmune polyendocrinopathy candidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1.
21962774 AIRE can participate in the Dectin-1 signaling pathway, indicating a novel extrathymic role for AIRE and a defect that likely contributes to fungal susceptibility in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
21856934 AIRE expression in down syndrome thymic medullary epithelial cells is significantly reduced
21740349 Autoimmune regulator (Aire) was found to drive expression of a multitude of peripheral tissue-restricted antigens in medullary thymic epithelial cells (Review)
21724609 AIRE requires P-TEFb to activate transcription elongation and co-transcriptional processing of target genes.
21508664 Mutations in heterozygosis in AIRE gene are not associated to major findings of APECED.
21505073 We identified two SNPs, rs2075876 and rs760426, in intron of the autoimmune regulator AIRE gene at chromosome 21q22 that showed strong associations with the Rheumatoid arthritis (RA).
21356351 AIRE expression in HaCaT epidermal keratinocytes, as well as its interaction with K17, was confirmed.
21197407 In patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)the AIRE homozygous mutation 845_846insC was found.
21102544 mutations of AIRE lead to the failure to eliminate autoreactive T cells, which can lead to clinical autoimmune syndromes.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20850570 Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20718774 Observational study of gene-disease association. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20494980 The AIRE promoter is activated by Trichostatin A (TSA) treatment and by serum depletion according to promoter reporter assays in HEK 293 cells.
20453472 genotypic and phenotypic studies of subjects with APS1 in north-western France: mutational analysis of AIRE gene in 19 subjects; correlation between one mutation/allele and alopecia
20407862 AIRE may function as a regulator in the phagocytic clearance of apoptotic cells by promoting the expression of Rac 1.
20363194 AIRE single nucleotide polymorphisms rs1055311, rs1800520 and rs1800522 were significantly more frequent in healthy subjects than in melanoma patients, independently from sex, age and stages of melanoma.
20363194 Observational study of gene-disease association. (HuGE Navigator)
20226168 These results suggest that transcription factors such as Aire and Deaf1, which exert global transcriptional regulatory functions, may play important roles in self-renewal of ESCs and maintaining ESC in a transcriptionally hyperactive state.
20218732 The analysis of AIRE's effect on the cellular proteome was approached by the combination of two quantitative proteomics techniques, 2D-DIGE and ICPL.
20185822 DAXX exerts a strong repressive role on the transcriptional activity of AIRE.
20140861 Novel mutations, A19T and R257X, of AIRE were discovered in in a Chinese family with autoimmune polyendocrinopathy syndrome type I.
20093495 AIRE+ cells in human peripheral lymphoid tissues correspond to a subset of activated interdigitating dendritic cells.
19863576 Data show that a novel c.1344delC mutation in AIRE and anti-IFN-omega antibodies appear very early in life are helpful to differentiate APS I from other multi-organ autoimmune diseases.
19811436 The AIRE R257X and 13bpdel mutations were not observed in patients with polyglandular autoimmunity
19811436 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19807739 this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in-bred community
19758376 Arab Autoimmune polyendocrinopathy syndrome type 1 patients carry novel and recurrent mutations in the AIRE gene.
19744957 AIRE is able to promote ectopic gene expression from chromatin associated with histone modifications characteristic to inactive genes.
19446523 Here we report the three-dimensional solution structure of the first PHD finger of human AIRE bound to a histone H3 peptide
19328411 The loss of immunologic tolerance to tissue-restricted antigens consequent to an absence of AIRE expression in the thymus results in the thymic export of autoreactive T cells that initiate autoimmunity
19322061 Heterozygous AIRE gene mutation may represent a genetic predisposition to childhood autoimmune hepatitis type I.
19322061 Observational study of gene-disease association. (HuGE Navigator)
19265170 Many of the orthologous genes putatively controlled by autoimmune regulator AIRE in human thymus, which then become autoantigens in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), are also controlled by Aire in mice.
19264985 Observational study of gene-disease association. (HuGE Navigator)
19261265 gammadelta T cells develop independently of Aire and are unlikely to have a significant pathogenetic or protective role in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
19209622 This is a report of a novel homozygous AIRE mutation in a German girl with severe autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy.
19124002 AIRE and p63 are involved in the regulation of HLA class II; defects in the AIRE-p63 interaction may lead to malfunction of HLA-based selection of self-reactive helper CD4(+) T cells in the thymus.
18682433 AIRE mutation detection was valuable in the diagnostics of autoimmune polyglandular syndrome-1 in patients with atypical presentation
18616774 The link between vitiligo and AIRE raises the possibility that defective skin peripheral antigen selection in the thymus is involved in the changes that result in melanocyte destruction in this disorder.
18616774 Observational study of gene-disease association. (HuGE Navigator)
18616706 The heterozygosity for AIRE mutations do not produce autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Italian patients.
18616706 Observational study of gene-disease association. (HuGE Navigator)
18606876 These results argue that the breakdown of tolerance to IFNs in AIRE deficiency is associated with impaired responses to them in thymus, and highlight APECED as another autoimmune disease with associated dysregulation of IFN activity.
18600308 Data support a role for AIRE in peripheral tolerance and are the first ones to show that AIRE has a critical role in DC responses to microbial stimuli in humans.
18568643 The infrequent and low expression of AIRE mRNA may play a role the induction of autoimmune diseases but other factors also seem to be involved
18461357 Our cases represent the first report of an association between APECED and CIDP, in which peripheral nerve demyelination may represent a novel disease component in APECED.
18324482 expressed in thymus B cells and CD4+CD8+ cells at a low level and in peripheral blood B cells and CD14+ dendritic cells (DCs)/macrophages and granulocytes at higher levels. AIRE mRNA was expressed higher in B cells than in T cells.
18320920 First case study in the literature reports on the possibility of the Ala58Glycine mutation being associated with polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
18292755 The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.
18200029 Analysis of AIRE protein single nucleotide polymorphisms in autoimmune Addison's disease and autoimmune polyendocrine syndrome type II finds that the AIRE gene is not associated with either disease.
18200029 Observational study of gene-disease association. (HuGE Navigator)
18194361 AIRE risk haplotypes identified in this study potentially account for a major component of the genetic risk of developing alopecia areata.
18194361 Observational study of gene-disease association. (HuGE Navigator)
18083234 These data suggest that AIRE and PIAS1 interact functionally to regulate the activities of the target genes of AIRE.
17997173 phosphorylation of the AIRE protein at Thr68 and Ser156 by DNA-Dependent Protein Kinase influences AIRE transactivation ability and might have impact on other aspects of the functional regulation of the AIRE protein
17974569 Combined homology modeling and in vitro data now show how APECED mutations influence the activity of this transcriptional regulator.
17938200 These findings reveal critical steps by which AIRE regulates the transcription of genes that control central tolerance in the thymus.
17928069 study describes three patients with rare thymoma-related autoimmune graft-versus-host-like disease and shows that the neoplastic compartment of their thymomas lack expression of AIRE
17850514 genetic variation in AIRE does not appear to play a role in vitiligo-associated multiple autoimmune disease
17697502 sequence in promoter differentially methylated between peripheral blood and placental tissue
17687331 findings reveal a critical function of AIRE and the interferon signalling pathway in regulating quantitative expression of this auto-antigen in the thymus, suggesting that together they set the threshold for self-tolerance versus autoimmunity
17675238 a new transactivation domain of the AIRE protein localized in the COOH terminal region
17323409 Review discusses the expression of AIRE in medullary thymus epithelial cells and its control of promiscuous expression of sets of self antigens.
17220063 We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.
17118990 six new mutations were identified in the Norwegian APS I patients
17101293 Observational study of gene-disease association. (HuGE Navigator)
16890195 Ets transcription factor family members Ets-1, Ets-2, and ESE-1 have positive effect on AIRE transcription.
16774540 Observational study of gene-disease association. (HuGE Navigator)
16774540 The study results do not support the hypothesis that the p.SER278Arg polymorphism of the AIRE gene is associated with an increased risk for alopecia areata.
16552513 Observational study of gene-disease association. (HuGE Navigator)
16552513 The AIRE gene does not seem to contribute to disease susceptibility in Finnish type 1 diabetic patients, whereas the insulin gene represents a notable risk factor for disease in this population.
16313305 Observational study of gene-disease association. (HuGE Navigator)
16310047 AIRE regulates gene expression by recruiting components of the transcription complex to specific regions of the genome via interactions with nuclear matrix.
16246524 Levels of autoimmune transcription regulator AIRE expression in the thymus may exert a stronger influence than does the expression of the insulin gene IDDM2 alleles themselves.
16114041 Our results indicate that the c.682T>G (p.G228W) mutant AIRE protein acts with a dominant negative effect by binding to the wild-type AIRE, thus preventing the protein from forming the complexes needed for transactivation.
15964547 AIRE activates transcription of the target genes, i.e., autoantigens in collaboration with CBP
15894121 AIRE gene expression is regulated by mitogen-activated protein kinase pathway
15886230 Three novel AIRE gene mutations were identified
15712268 2 novel mutations, c.230T>C (p.F77S) & c.64_69del (p.V22_D23del) within the HSR domain were found in autoimmune polyendocrinopathy-candidasis ectodermal dystrophy. Both negatively affected homodimerization.
15696198 Results demonstrate that deficiency of AIRE expression is observed in severe immunodeficiencies characterized by abnormal T cell development.
15482854 identified candidates for AIRE-regulated genes by using cDNA microarray technology to analyse the changes in the gene expression profile brought about by overexpressing the AIRE protein in the monocytic U937 cells
15157567 The 545-amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator.
15150263 results suggest that the transcriptional regulating activities of Autoimmune regulator (AIRE) within a cell are controlled and organized in a spatiotemporal ma
14734522 disease-causing missense mutations in the PHD1 plant homeodomain (C311Y and P326Q) abolished its E3 ligase activity
12651856 characterization of regulatory elements and methylation pattern of promoter
12625412 The AIRE gene was analyzed in a 39-year old female with autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED). Direct sequencing revealed a novel missense mutation at exon 1 (R15C)
12542742 Observational study of gene-disease association. (HuGE Navigator)
12542742 The change from serine to arginine in the SAND domain of AIRE protein may have a significant effect on AIRE DNA-binding activity.
12050215 Observational study of gene-disease association. (HuGE Navigator)
12050215 AIRE mutations as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
11803052 Expression of AIRE gene in peripheral monocyte/dendritic cell lineage
11298085 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQD      1 - 70
STAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARA     71 - 140
AAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGIL    141 - 210
IQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVP    211 - 280
APLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQP    281 - 350
RAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV    351 - 420
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAP    421 - 490
SPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS                   491 - 545
//

Text Mined References (159)

PMID Year Title
27264825 2016 [Association of AIRE gene polymorphisms with susceptibility to rheumatoid arthritis among ethnic Han Chinese from Shaanxi].
27072778 2016 Sex bias in CNS autoimmune disease mediated by androgen control of autoimmune regulator.
27048654 2016 Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells.
26999605 2016 Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases.
26903062 2016 [Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case].
26607109 2015 Extended HSR/CARD domain mediates AIRE binding to DNA.
26579596 2015 Central tolerance to self revealed by the autoimmune regulator.
26503950 2015 Aire Expression Is Inherent to Most Medullary Thymic Epithelial Cells during Their Differentiation Program.
26168014 2015 Keratin-dependent regulation of Aire and gene expression in skin tumor keratinocytes.
26114819 2015 Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
26084028 2015 Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
25978041 2015 The AIRE -230Y Polymorphism Affects AIRE Transcriptional Activity: Potential Influence on AIRE Function in the Thymus.
25842288 2015 PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
25637666 2015 Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk.
25367057 2014 Hypoparathyroidism and central diabetes insipidus: in search of the link.
25217160 2014 Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.
25158603 2014 AIRE acetylation and deacetylation: effect on protein stability and transactivation activity.
25064028 2014 A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
25038256 2014 Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype.
24988226 2014 New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.
24945421 2014 Polyglandular autoimmune syndrome type I - a novel AIRE mutation in a North American patient.
24708100 2014 Expression of thyrotropin receptor, thyroglobulin, sodium-iodide symporter, and thyroperoxidase by fibrocytes depends on AIRE.
24703644 2014 [The challenge for dermatologists of early APECED diagnosis].
24464130 2014 The transcriptional regulator Aire coopts the repressive ATF7ip-MBD1 complex for the induction of immunotolerance.
24275490 2014 The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein.
24170308 2014 Association of AIRE polymorphisms with genetic susceptibility to rheumatoid arthritis in a Chinese population.
23954874 2013 Regulation of human autoimmune regulator (AIRE) gene translation by miR-220b.
23697860 2013 Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I.
23643663 2013 Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.
23620608 2012 Clinical phenotypes of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy seen in the Northern Ireland paediatric population over the last 30 years.
23589212 2013 An evolutionarily conserved mutual interdependence between Aire and microRNAs in promiscuous gene expression.
23456700 2013 The mechanism of tissue-restricted antigen gene expression by AIRE.
23342054 2013 A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
23320549 2013 Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study.
23319629 2013 Aire's plant homeodomain(PHD)-2 is critical for induction of immunological tolerance.
23256763 2013 Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model.
23083345 2012 Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations.
23077531 2012 Exploring PHD fingers and H3K4me0 interactions with molecular dynamics simulations and binding free energy calculations: AIRE-PHD1, a comparative study.
23074189 2012 AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome.
22659170 2012 Autoimmune regulator is acetylated by transcription coactivator CBP/p300.
22613203 2012 AIRE-induced apoptosis is associated with nuclear translocation of stress sensor protein GAPDH.
22490868 2012 Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy.
22447927 2012 Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.
22377300 2012 [Medullary thymic epithelial cells expressing Aire, key mediators in the induction of T-cell tolerance].
22344197 2012 Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.
22310661 2012 Unmodified histone H3K4 and DNA-dependent protein kinase recruit autoimmune regulator to target genes.
22104652 2012 Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.
22036612 2011 DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues.
22024611 2012 Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
21962774 2012 Autoimmune regulator (AIRE) contributes to Dectin-1-induced TNF-? production and complexes with caspase recruitment domain-containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1.
21856934 2011 Decreased AIRE expression and global thymic hypofunction in Down syndrome.
21740349 2011 The contribution of thymic stromal abnormalities to autoimmune disease.
21724609 2011 Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.
21508664 2012 Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
21505073 2011 The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
21356351 2011 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 17.
21197407 2010 Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
21102544 2011 The role of AIRE in human autoimmune disease.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20850570 2011 Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20718774 2010 AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20494980 2010 Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
20453472 2010 Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies.
20407862 2010 Upregulation of phagocytic clearance of apoptotic cells by autoimmune regulator.
20363194 2010 The role of AIRE polymorphisms in melanoma.
20226168 2010 Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells.
20218732 2010 Increased apoptosis after autoimmune regulator expression in epithelial cells revealed by a combined quantitative proteomics approach.
20185822 2010 DAXX is a new AIRE-interacting protein.
20140861 2010 [Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I].
20093495 2010 Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.
20085707 2010 Aire's partners in the molecular control of immunological tolerance.
19863576 2010 Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
19811436 2009 The proinflammatory cytokine TNF-alpha -308 AA genotype is associated with polyglandular autoimmunity.
19807739 2009 Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.
19758376 2009 Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
19744957 2009 AIRE activated tissue specific genes have histone modifications associated with inactive chromatin.
19446523 2009 Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.
19328411 2009 Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
19322061 2009 AIRE gene analysis in children with autoimmune hepatitis type I or II.
19293276 2009 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.
19265170 2009 Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.
19264985 2009 Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
19261265 2009 gammadelta T cells develop independently of Aire.
19209622 2008 Novel homozygous AIRE mutation in a German patient with severe APECED.
19124002 2009 Wild-type AIRE cooperates with p63 in HLA class II expression of medullary thymic stromal cells.
18682433 2008 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.
18616774 2008 The autoimmune regulator gene (AIRE) is strongly associated with vitiligo.
18616706 2009 Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
18606876 2008 Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes.
18600308 2008 Critical immunological pathways are downregulated in APECED patient dendritic cells.
18568643 2008 Infrequent and low AIRE expression in thymoma: difference in AIRE expression among WHO subtypes does not correlate with association of MG.
18461357 2009 Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy.
18324482 2008 Expression of AIRE in thymocytes and peripheral lymphocytes.
18320920 2008 A novel mutation associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
18292755 2008 The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.
18200029 2008 AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.
18194361 2008 Genetic analysis of autoimmune regulator haplotypes in alopecia areata.
18083234 2008 Functional interaction of AIRE with PIAS1 in transcriptional regulation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17997173 2008 DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activity.
17974569 2008 AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.
17938200 2007 AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells.
17928069 2007 Graft-versus-host-like disease complicating thymoma: lack of AIRE expression as a cause of non-hereditary autoimmunity?
17850514 2007 Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE.
17697502 2007 Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome.
17687331 2007 An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
17675238 2008 Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17323409 2007 Aire-ing self antigen variability and tolerance.
17220063 2006 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.
17118990 2007 Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.
17101293 2007 AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.
16890195 2006 Ets transcription factors regulate AIRE gene promoter.
16774540 2006 Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.
16552513 2006 Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
16313305 2005 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.
16310047 2006 AIRE recruits multiple transcriptional components to specific genomic regions through tethering to nuclear matrix.
16246524 2005 Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus.
16114041 2005 Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
15964547 2005 Cooperative activation of transcription by autoimmune regulator AIRE and CBP.
15894121 2005 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.
15886230 2005 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.
15712268 2005 Two novel mutations of the AIRE protein affecting its homodimerization properties.
15696198 2005 AIRE deficiency in thymus of 2 patients with Omenn syndrome.
15649886 2005 NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15482854 2004 Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage.
15157567 2004 Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.
15150263 2004 Subcellular expression of autoimmune regulator is organized in a spatiotemporal manner.
14974083 2004 APECED-causing mutations in AIRE reveal the functional domains of the protein.
14734522 2004 AIRE functions as an E3 ubiquitin ligase.
12651856 2003 Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter.
12625412 2002 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.
12542742 2002 Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12173302 2002 Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.
12050215 2002 AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
11836330 2002 Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
11600535 2001 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.
11533054 2001 The autoimmune regulator (AIRE) is a DNA-binding protein.
11524733 2001 Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
11524731 2001 APECED mutations in the autoimmune regulator (AIRE) gene.
11298085 2001 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.
11275943 2001 Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
11274163 2001 Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.
10830953 2000 The DNA sequence of human chromosome 21.
10748110 2000 The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
10677297 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
9931335 1999 AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.
9931333 1999 Localization of the APECED protein in distinct nuclear structures.
9888391 1999 Mutation analyses of North American APS-1 patients.
9735375 1998 Gene defect behind APECED: a new clue to autoimmunity.
9717837 1998 Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
9398840 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
9398839 1997 Positional cloning of the APECED gene.
9267805 1997 High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.
7987397 1994 An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.