Nathalie P. Vroegindeweij-de Wagenaar

This study generates and characterizes induced pluripotent stem cell models with SMAD3 mutations to investigate LDS3 aneurysm formation mechanisms.

The paper investigates how the Restrictor complex suppresses non-coding RNA transcription by slowing RNA polymerase II elongation, preventing transcriptional interference at divergent promoters.

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.

This study investigates the roles of MBD2 and MBD3 isoforms in NuRD complex function during differentiation, showing that MBD2b can fully rescue MBD3 loss while MBD2t cannot.