De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons
新发的MAP2K4变异会导致一种新的神经发育综合征,其特征是iPSC衍生神经元中的JNK信号传导受损。
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doi:10.64898/2025.12.23.25342932
Nomakuchi, Tomoki T; Rippert, Alyssa L; De León, Sabrina A Santos; Gonzalez, Elizabeth M; Li, Dong; Angireddy, Rajesh; Finoti, Livia Sertori; Faletra, Flavio; Musante, Luciana; Tuula, Rinne; Amor, David J; von Wintzingerode, Lydia; Jamra, Rami Abou; Stover, Samantha R; Buchan, Jillian G; Hayek, Jennifer; Leon, Eyby; Attie-Bitach, Tania; Rio, Marlene; Baujat, Genevieve; Wallach, Elisabeth; Smail, Amandine; Dias, Kerith-Rae; Pfeifer, Ulrich; Peterson, Amanda; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K