September 2022
Happy to share our new preprint “An intragenic FAT1 regulatory element deleted in muscular dystrophy patients drives muscle and mesenchyme expression during development”.
This is a long due follow up of our past discovery of FSHD-associated Copy number variants deleting a putative FAT1 enhancer (Caruso et al., Plos Genetics 2013). We have explored this possibility by investigating the transcriptional activity of this putative enhancer in vivo.
- Nathalie Caruso, Angela K. Zimmermann, Tarana Nigam, Celine Becker, Karelia Lipson, Françoise Helmbacher. “An intragenic FAT1 regulatory element deleted in muscular dystrophy patients drives muscle and mesenchyme expression during development” Biorxiv (2022), September 17 | doi: 10.1101/2022.09.14.507898 | PDF
January 2022
I’m delighted to share that the manuscript “Astrocyte-intrinsic and extrinsic Fat1 activities regulate astrocyte development and angiogenesis in the retina” is now published in Development (2022) | doi:10.1242/dev.192047 | PDF |
This study uncovers astrocyte-intrinsic and extrinsic Fat1 activities that influence astrocyte migration polarity, proliferation and maturation, the disruption of which impacts retinal vascular development and maintenance of vascular architecture.
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