Miguel Casanova

This study uses stem cell-derived cerebellar organoids to model Angelman syndrome, revealing impaired development and neuronal dysfunction in cerebellar cells.

The paper shows XIST reduces X chromosome activity through SPEN-dependent mechanisms before XCI in human embryos, while XACT does not significantly affect XIST function.

This study shows XCI erosion in female hiPSCs is common, heterogeneous, and persists during differentiation, affecting X-linked gene expression without altering DNA methylation levels.

The paper identifies a primate-specific retroviral enhancer that integrates the XACT lncRNA into the human pluripotency network through evolutionary adaptation.

The paper investigates the mechanistic differences in XIST regulatory networks between humans and mice, showing that JPX regulates XIST expression through distinct mechanisms in each species.