日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.

突触和膜兴奋性基因中的隐蔽剪接将 TDP-43 的缺失与神经元功能障碍联系起来

Guo Caiwei, Chen Kuchuan, Vatsavayai Sarat C, Akiyama Tetsuya, Zeng Yi, Liu Chang, Sianto Odilia, Yang Edith, Bombosch Juliane, Powell Rasheen, Zhen Shannon, Mekhoubad Shila, Morrie Ryan D, Miller Georgiana, Green Eric M, Petrucelli Leonard, Seeley William W, Gitler Aaron D

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

TDP-43 抑制 FTD-ALS 基因 UNC13A 中的隐秘外显子包含

X Rosa Ma #, Mercedes Prudencio #, Yuka Koike #, Sarat C Vatsavayai, Garam Kim, Fred Harbinski, Adam Briner, Caitlin M Rodriguez, Caiwei Guo, Tetsuya Akiyama, H Broder Schmidt, Beryl B Cummings, David W Wyatt, Katherine Kurylo, Georgiana Miller, Shila Mekhoubad, Nathan Sallee, Gemechu Mekonnen, Laur

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

人类多能干细胞反复获得并扩增显性负 P53 突变

Florian T Merkle #, Sulagna Ghosh #, Nolan Kamitaki, Jana Mitchell, Yishai Avior, Curtis Mello, Seva Kashin, Shila Mekhoubad, Dusko Ilic, Maura Charlton, Genevieve Saphier, Robert E Handsaker, Giulio Genovese, Shiran Bar, Nissim Benvenisty, Steven A McCarroll, Kevin Eggan

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

脊髓性肌萎缩症严重模型中的 SMN 缺乏会导致广泛的内含子保留和 DNA 损伤

Mohini Jangi, Christina Fleet, Patrick Cullen, Shipra V Gupta, Shila Mekhoubad, Eric Chiao, Norm Allaire, C Frank Bennett, Frank Rigo, Adrian R Krainer, Jessica A Hurt, John P Carulli, John F Staropoli

DNA methylation dynamics of the human preimplantation embryo

人类植入前胚胎的DNA甲基化动态

Smith, Zachary D; Chan, Michelle M; Humm, Kathryn C; Karnik, Rahul; Mekhoubad, Shila; Regev, Aviv; Eggan, Kevin; Meissner, Alexander

Erosion of dosage compensation impacts human iPSC disease modeling

剂量补偿机制的削弱会影响人类诱导多能干细胞疾病建模

Mekhoubad, Shila; Bock, Christoph; de Boer, A Sophie; Kiskinis, Evangelos; Meissner, Alexander; Eggan, Kevin

X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells

人类胚胎干细胞中的X染色体失活和表观遗传流动性

Silva, Susana S; Rowntree, Rebecca K; Mekhoubad, Shila; Lee, Jeannie T

Recombinant modified vaccinia virus Ankara expressing a soluble form of glycoprotein B causes durable immunity and neutralizing antibodies against multiple strains of human cytomegalovirus

表达可溶性糖蛋白 B 的重组修饰痘苗病毒安卡拉可产生持久免疫力和针对多种人类巨细胞病毒株的中和抗体

Zhongde Wang, Corinna La Rosa, Rebecca Maas, Heang Ly, John Brewer, Shahram Mekhoubad, Pirouz Daftarian, Jeff Longmate, William J Britt, Don J Diamond