An iPSC-based model of Jacob Syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with X aneuploid cells.
Veronica Astro, Kelly J. Cardona‐Londoño, Lorena V. Cortés-Medina, R. Alghamdi, Gustavo Ramírez-Calderón, Fotios Kefalas, Jair Dilmé-Capó, Santiago Radío, Antonio Adamo
This study uses iPSCs to analyze transcriptional dysregulation in Jacob Syndrome, finding shared gene expression patterns with Klinefelter Syndrome and a DNA methylation-independent mechanism.
bioRxiv · Jun 18, 2024 · PreprintCell Biology