Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
有害的ZNRF3种系变异通过对Wnt/β-catenin信号通路的特定结构域影响,导致具有镜像脑表型的神经发育障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.07.016
Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anaïs; Joset, Pascal; Bhoj, Elizabeth J; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Palomares Bralo, María; Rikeros Orozco, Emi; Hao, Qin; Schlott Kristiansen, Britta; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H C; Sticht, Heinrich; Rauch, Anita
信号转导
发育与干细胞
Wnt/β-Catenin
神经科学