Single-Cell Multimodal Profiling Reveals Maternal Diabetes-Nkx2-5 Interaction in Congenital Heart Disease in a Genetic Model Recapitulating Human Embryopathies
Stéphanie Ibrahim, Julien Maurizio, Nikita Ved, Thibault Brunet, Camille Humbert, Damien Conrozier, Sofian Ameur, Gwenaelle Collod, Dorota Szumska, Jack J. J. J. Miller, Frances Mary Ashcroft, Bernard Thienpont, Anne-Karin Kahlert, Duncan Burnaby Sparrow, Sonia Stefanovic
The paper shows that maternal diabetes and Nkx2-5 haploinsufficiency together cause severe cardiac defects in mice, with single-cell multiomic data revealing transcriptional and chromatin changes.
bioRxiv · Oct 13, 2026 · PreprintDevelopmental Biology