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

ABSTRACT: 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.

ORGANISM(S): Mus musculus

PROVIDER: GSE317273 | GEO | 2026/01/27

REPOSITORIES: GEO