GEO series
Effect of SAND variant in Aire, R249C, on thymus epithelial gene expression.
GSE317273
Mus musculus
Expression profiling by high throughput sequencing
11 samples
2026/01/27
GPL34328
Summary
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.
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