CSMD1 regulates brain complement activity and circuit development
Baum, Matthew L., Wilton, Daniel K., Fox, Rachel G., Carey, Alanna, Hsu, Yu-Han H., Hu, Ruilong, Jäntti, Henna J., Fahey, Jaclyn B., Muthukumar, Allie K., Salla, Nikkita, Crotty, William, Scott-Hewitt, Nicole, Bien, Elizabeth, Sabatini, David A., Lanser, Toby B., Frouin, Arnaud, Gergits, Frederick, Håvik, Bjarte, Gialeli, Chrysostomi, Nacu, Eugene, Lage, Kasper, Blom, Anna M., Eggan, Kevin, McCarroll, Steven A., Johnson, Matthew B., Stevens, Beth
Published in Brain, behavior, and immunity (01.07.2024)
Published in Brain, behavior, and immunity (01.07.2024)
Get full text
Journal Article
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
Scala, Marcello, Khan, Kamal, Beneteau, Claire, Fox, Rachel G., von Hardenberg, Sandra, Khan, Ayaz, Joubert, Madeleine, Fievet, Lorraine, Musquer, Marie, Le Vaillant, Claudine, Holsclaw, Julie Korda, Lim, Derek, Berking, Ann-Cathrine, Accogli, Andrea, Giacomini, Thea, Nobili, Lino, Striano, Pasquale, Zara, Federico, Torella, Annalaura, Nigro, Vincenzo, Cogné, Benjamin, Salick, Max R., Kaykas, Ajamete, Eggan, Kevin, Capra, Valeria, Bézieau, Stéphane, Davis, Erica E., Wells, Michael F.
Published in Genetics in medicine (01.04.2024)
Published in Genetics in medicine (01.04.2024)
Get full text
Journal Article
CUB and Sushi Multiple Domains 1 (CSMD1) opposes the complement cascade in neural tissues
Baum, Matthew L, Wilton, Daniel K, Muthukumar, Allie, Fox, Rachel G, Carey, Alanna, Crotty, William, Scott-Hewitt, Nicole, Bien, Elizabeth, Sabatini, David A, Lanser, Toby, Frouin, Arnaud, Gergits, Frederick, Håvik, Bjarte, Gialeli, Chrysostomi, Nacu, Eugene, Blom, Anna M, Eggan, Kevin, Johnson, Matthew B, Mccarroll, Steven A, Stevens, Beth
Published in bioRxiv (12.09.2020)
Published in bioRxiv (12.09.2020)
Get full text
Paper