Recombinant Human Autoimmune regulator (AIRE)

1. this review shows the role of AIRE in peripheral tolerance PMID: 30255105
2. AIRE contributes to autoimmunity in more common organ-specific autoimmune disorders than autoimmune polyendocrine syndrome type-1 (Review) PMID: 27504588
3. Rs3761389 variant is associated with the susceptibility of myasthenia gravis in Chinese patients. PMID: 28262400
4. Our findings suggest that AIRE does not have a role in the induction and function of monocyte-derived tolerogenic DC in humans, but these findings do not exclude a role for AIRE in peripheral tolerance mediated by other cell types. PMID: 26912174
5. Estrogen induces decreased thymic AIRE expression by epigenetic modifications through increased number of methylation sites within the AIRE promoter.[review] PMID: 28240208
6. Whole exome sequencing followed by Sanger sequencing revealed that all three subjects affected by hypoparathyroidism were compound heterozygous for two previously reported mutations, c.967_979delCTGTCCCCTCCGC:p.(L323SfsX51) and c.995+(3_5)delGAGinsTAT, in AIRE, which encodes the autoimmune regulator protein that is defective in autoimmune polyglandular syndrome type 1 (APS-1). PMID: 28323927
7. Aire exerts multi-faceted autoimmune control that extends to a population of innate-like T cells. PMID: 27851927
8. Homozygote Mutation in the AIRE gene is associated with APECED syndrome. PMID: 28222032
9. the presence of AIRE can trigger molecular events leading to an altered chromatin landscape and the enhanced transcription of low-expressed genes PMID: 28242760
10. These data are the first to identify AIRE expression in breast cancer and an association with prognosis. PMID: 27753538
11. AIRE, which is phosphorylated on two specific residues near its N terminus, then binds to the F-box protein 3 (FBXO3) E3 ubiquitin ligase. In turn, this SCF(FBXO3) (SKP1-CUL1-F box) complex ubiquitylates AIRE, increases its binding to the positive transcription elongation factor b (P-TEFb), and potentiates its transcriptional activity. PMID: 27365398
12. this paper shows that genetic polymorphisms in AIRE do not contribute to the Graves' disease in Spain PMID: 27266815
13. 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. PMID: 27048654
14. androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity. PMID: 27072778
15. 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. PMID: 26999605
16. The rs2075876 and rs760426 loci of the AIRE gene are associated with increased risk for rheumatoid arthritis among ethnic Han Chinese from ShaanXi. PMID: 27264825
17. The novel mutation of c.622G>T (p.G208W) in AIRE gene is associated autoimmune polyendocrinopathy syndrome type I. PMID: 26903062
18. AIRE-655GAIRE-230T haplotype could dramatically alter AIRE transcription. PMID: 25978041
19. 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. PMID: 26607109
20. 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. PMID: 26503950
21. 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. PMID: 26114819
22. 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. PMID: 26579596
23. 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 PMID: 25064028
24. genetic polymorphism is associated with development and progression of rheumatoid arthritis in China PMID: 25637666
25. Data indicate that autoimmune regulator Aire mRNA transcripts are regulated in a keratin 17 (K17) dependent manner in skin tumor keratinocytes. PMID: 26168014
26. 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. PMID: 24988226
27. disease-causing mutations are more common than previously appreciated and cause more variable autoimmune phenotypes PMID: 26084028
28. 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. PMID: 25842288
29. The disease is caused by a homozygous mutation in the AIRE gene mapped to chromosome 21q22.1. PMID: 25367057
30. Our findings suggest that the AIRE gene is associated with susceptibility to rheumatoid arthritis in the Spanish population PMID: 23320549
31. a model in which lysines acetylation increases the stability of AIRE in the nucleus. PMID: 25158603
32. Mutations in the AIRE gene is associated with polyglandular autoimmune syndrome type I. PMID: 24945421
33. APECED was confirmed by molecular analysis of AIRE gene, which showed two mutations. PMID: 24703644
34. 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. PMID: 25217160
35. 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. PMID: 25038256
36. AIRE rs2075876 and rs760426 polymorphisms were involved in the genetic background of rheumatoid arthritis in the Chinese population. PMID: 24170308
37. these findings implicate AIRE in the promiscuous expression of thyroid proteins in fibrocytes. PMID: 24708100
38. We demonstrated the importance of Aire's interaction with the ATF7ip-MBD1 protein complex in maintaining central tolerance PMID: 24464130
39. Studies indicate that the plant homeodomain 2(PHD2) of autoimmune regulator (AIRE) protein plays a critical role in the activation of gene transcription. PMID: 24275490
40. 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. PMID: 23620608
41. 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 PMID: 23643663
42. 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. PMID: 23954874
43. There are a limited number of cases linking autoimmune retinopathy with a mutation in the AIRE gene. PMID: 23697860
44. 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 PMID: 23589212
45. functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1 PMID: 23342054
46. Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model. PMID: 23256763
47. AIRE gene mutations are associated with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in patients from Apulia and Sicily. PMID: 22104652
48. [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. PMID: 23456700
49. Data indicate that PHD2 domain is required for Aire to interact with a subset of its partners PMID: 23319629
50. 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. PMID: 22024611

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HGNC: 360

OMIM: 109100

KEGG: hsa:326

STRING: 9606.ENSP00000291582

UniGene: Hs.129829