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Estrogen induces decreased thymic AIRE expression by epigenetic modifications through increased number of methylation sites within the AIRE promoter.[review]
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).
Aire exerts multi-faceted autoimmune control that extends to a population of innate-like T cells.
Homozygote Mutation in the AIRE gene is associated with APECED syndrome.
the presence of AIRE can trigger molecular events leading to an altered chromatin landscape and the enhanced transcription of low-expressed genes
These data are the first to identify AIRE expression in breast cancer and an association with prognosis.
AIRE, which is phosphorylated on two specific residues near its N terminus, then binds to the F-box protein 3 (FBXO3 (show FBXO3 ELISA Kits)) E3 ubiquitin ligase. In turn, this SCF (show KITLG ELISA Kits)(FBXO3 (show FBXO3 ELISA Kits)) (SKP1 (show SKP1 ELISA Kits)-CUL1 (show CUL1 ELISA Kits)-F box) complex ubiquitylates AIRE, increases its binding to the positive transcription elongation factor b (P-TEFb (show CDK9 ELISA Kits)), and potentiates its transcriptional activity.
this paper shows that genetic polymorphisms in AIRE do not contribute to the Graves' disease in Spain
This study supports the notion that AIRE mutation could specifically affect human insulin (show INS ELISA Kits) gene expression in thymic epithelial cells through INS (show INS ELISA Kits)-VNTR and subsequently induce either insulin (show INS ELISA Kits) tolerance or autoimmunity.
androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity.
the maternal microbiome influences Treg differentiation in the thymus of offspring through GPR41 (show FFAR3 ELISA Kits)-mediated Aire expression
A mutation in LYN (show LYN ELISA Kits), an inhibitory protein tyrosine kinase (show YES1 ELISA Kits) that is implicated in systemic autoimmunity, combines with an Aire mutation to provoke organ-specific autoimmunity.
this study shows that Aire enforces immune tolerance by ensuring that distinct autoreactive T cell specificities differentiate into the Treg cell lineage
This finding is the first direct evidence that Aire also plays a role in controlling medullary thymic epithelial cells-thymocyte adhesion.
findings identified two novel stages in the differentiation program of Aire(+) Medullary thymic epithelial cells.
this study shows that Aire and some of its partners, notably those implicated in the DNA-damage response, preferentially localize to and activate long chromatin stretches that are overloaded with transcriptional regulators, known as super-enhancers
Results indicated that AIRE influenced gene expression in germ cell 1 spermatogonial (GC1-spg) cells by acting at multiple levels, including transcription, translation, RNA processing, protein transport, protein localization, and protein degradation, thus setting the foundation in understanding the functional role of AIRE in germ cell biology.
this study provides insight into the complex molecular mechanisms that control the medullary thymic epithelial cells-specific expression of Aire
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED).
, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
, autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
, APECED protein homolog
, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog
, autoimmune regulator AIRE1a