Article
Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution.
eLife - 3 Nov 2020
Orsenigo Fabrizio, Conze Lei Liu, Jauhiainen Suvi, Corada Monica, Lazzaroni Francesca, Malinverno Matteo, Sundell Veronica, Cunha Sara Isabel, Brännström Johan, Globisch Maria Ascención, Maderna Claudio, Lampugnani Maria Grazia, Magnusson Peetra Ulrica, Dejana Elisabetta
Abstract excerpt
Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage. Loss-of-function mutations to any of three genes results in CCM lesion formation; namely, KRIT1, CCM2, and PDCD10 (CCM3). Here, we report for the first time in-depth single-cell RNA sequencing, combined with spatial transcriptomics and...
Topics
- Animals
- Apoptosis Regulatory Proteins
- Arteries
- Brain
- Cell Differentiation
- Disease Models, Animal
- Endothelial Cells
- Gene Deletion
- Hemangioma, Cavernous, Central Nervous System