Article
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Nature communications - 17 Nov 2023
Zhao Shujuan, Mekbib Kedous Y, van der Ent Martijn A, Allington Garrett, Prendergast Andrew, Chau Jocelyn E, Smith Hannah, Shohfi John, Ocken Jack, Duran Daniel, Furey Charuta G, Hao Le Thi, Duy Phan Q, Reeves Benjamin C, Zhang Junhui, Nelson-Williams Carol, Chen Di, Li Boyang, Nottoli Timothy, Bai Suxia, Rolle Myron, Zeng Xue, Dong Weilai, Fu Po-Ying, Wang Yung-Chun, Mane Shrikant, Piwowarczyk Paulina, Fehnel Katie Pricola, See Alfred Pokmeng, Iskandar Bermans J, Aagaard-Kienitz Beverly, Moyer Quentin J, Dennis Evan, Kiziltug Emre, Kundishora Adam J, DeSpenza Tyrone, Greenberg Ana B W, Kidanemariam Seblewengel M, Hale Andrew T, Johnston James M, Jackson Eric M, Storm Phillip B, Lang Shih-Shan, Butler William E, Carter Bob S, Chapman Paul, Stapleton Christopher J, Patel Aman B, Rodesch Georges, Smajda Stanislas, Berenstein Alejandro, Barak Tanyeri, Erson-Omay E Zeynep, Zhao Hongyu, Moreno-De-Luca Andres, Proctor Mark R, Smith Edward R, Orbach Darren B, Alper Seth L, Nicoli Stefania, Boggon Titus J, Lifton Richard P, Gunel Murat, King Philip D, Jin Sheng Chih, Kahle Kristopher T
Abstract excerpt
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants...
Topics
- Humans
- Animals
- Mice