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Effect of SAND variant in Aire, R249C, on thymus epithelial gene expression.

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NIAID Data Ecosystem2026-05-10 收录
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The novel human AIRE variant, R247C, profoundly impairs transcription of AIRE-target genes, including tissue restricted antigens whose expression is essential for forming T cell central tolerance. The equivalent amino acid was similarly mutated in mice, resulting in Aire R249C mice. Overall design: RNA-seq profiling of thymus epithelial cells (epCAM+, CD45-) from 4 to 8 week old NOD.AireWT/WT, NOD.AireWT/R249C, NOD.AireR249C/R249C.

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2026-01-27
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