High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys
Amund Holte Berger, Bergithe Eikeland Oftedal, Anette S. B. Wolff, Eystein S. Husebye, Per Morten Knappskog, Eirik Bratland, Stefan Johansson
The paper evaluates the transcriptional impact of three AIRE variants using a cell system, showing different functional effects on gene expression.
Frontiers in Immunology · Apr 22, 2025Peer-reviewedGenomics