Transcriptomic and epigenomic consequences of heterozygous loss of function mutations in AKAP11, the first large-effect shared risk gene for bipolar disorder and schizophrenia
Nargess Farhangdoost, Calwing Liao, Yumin Liu, Martin Alda, Patrick A. Dion, Guy Armand Rouleau, Anouar Khayachi, Boris Chaumette
This study investigates transcriptomic and epigenomic changes in human neurons with heterozygous AKAP11 loss-of-function mutations, revealing dysregulation of enhancers and gene networks linked to bipolar disorder and schizophrenia.
bioRxiv · Mar 14, 2024 · PreprintGenomics