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

Human microglia in brain assembloids display region-specific diversity and respond to hyperexcitable neurons carrying SCN2A mutation.

脑集合体中的人类小胶质细胞表现出区域特异性多样性,并对携带 SCN2A 突变的过度兴奋神经元做出反应。

Wu Jiaxiang, Chen Xiaoling, Zhang Jingliang, Wettschurack Kyle, Robinson Morgan, Li Weihao, Zhao Yuanrui, Yoo Ye-Eun, Deming Brody A, Shu Yue, Abeyaratna Akila D, Que Zhefu, Du Dongshu, Tegtmeyer Matthew, Yuan Chongli, Skarnes William C, Zhang Zhong-Yin, Rochet Jean-Christophe, Wu Long-Jun, Yang Yang

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

BCAT1基因的双等位基因变异会损害线粒体功能,并与一种候选神经代谢疾病相关。

Brianna L DiSanza,Giulia S Porcari,Livia Sertori Finoti,Leonardo Ramos-Rodriguez,Devin M Burris,Justin A McDonough,Gang Ning,Grace Fagan,Guy T Helman,Erin Weiss,Ryan J Taft,Amy Pizzino,Matthew T Whitehead,Amy Waldman,Cas Simons,Xilma Ortiz-Gonzalez,William C Skarnes,Adeline Vanderver,Elizabeth J Bhoj,Rebecca C Ahrens-Nicklas

Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation

神经退行性疾病风险变异促进溶酶体TMEM106B原纤维的积累。

Replogle, John Michael; Marks, Jordan D; Fernandez, Martin G; Yuan, Hebao; Yu, Dahyun; Winters, Elizabeth; Jawahar, Vidhya Maheswari; Deshmukh, Rishi; Sutanto, Renaldo; Kowal, Isabelle; Frankenfield, Ashley; Shi, Rachel; Carlomagno, Yari; Jansen-West, Karen; Todd, Tiffany W; Kopach, Andrii; Sandra Ndayambaje, Iradukunda; Qi, Yue A; Shantaraman, Ananth; Pozo-Cabanell, Ignacio; Sheth, Udit; Yue, Mei; Duong, Duc; Ferguson, Shawn M; Bennett, David A; Damme, Markus; Boeve, Brad F; Day, Gregory S; Kellman, Benjamin; Skarnes, William C; Petersen, Ronald C; Josephs, Keith A; Graff-Radford, Neill R; McDonough, Justin A; Prudencio, Mercedes; Barmada, Sami J; Zhang, Yongjie; Hao, Ling; DeTure, Michael; Rawlinson, Bailey; Engelberg-Cook, Erica; Casey, Monica Castanedes; Perez, Nathan; Dickson, Dennis W; Wingo, Aliza; Liu, Yue; Seyfried, Nicholas T; Wingo, Thomas S; Mosalaganti, Shyamal; Petrucelli, Leonard; Ward, Michael E

MorPhiC Consortium: towards functional characterization of all human genes

MorPhiC联盟:迈向所有人类基因的功能表征

Adli, Mazhar; Przybyla, Laralynne; Burdett, Tony; Burridge, Paul W; Cacheiro, Pilar; Chang, Howard Y; Engreitz, Jesse M; Gilbert, Luke A; Greenleaf, William J; Hsu, Li; Huangfu, Danwei; Hung, Ling-Hong; Kundaje, Anshul; Li, Sheng; Parkinson, Helen; Qiu, Xiaojie; Robson, Paul; Schürer, Stephan C; Shojaie, Ali; Skarnes, William C; Smedley, Damian; Studer, Lorenz; Sun, Wei; Vidović, Dušica; Vierbuchen, Thomas; White, Brian S; Yeung, Ka Yee; Yue, Feng; Zhou, Ting

Triglyceride metabolism controls inflammation and microglial phenotypes associated with APOE4

甘油三酯代谢控制与 APOE4 相关的炎症和微胶质细胞表型

Roxan A Stephenson ,Jordy Sepulveda ,Kory R Johnson ,Adrian Lita ,Jaanam Gopalakrishnan ,Dominic J Acri ,Alexandra Beilina ,Linling Cheng ,Linda G Yang ,Jessica T Root ,Michael E Ward ,Christian Combs ,William C Skarnes ,Mark R Cookson ,Han-Yu Shih ,Mioara Larion ,G William Rebeck ,Priyanka S Narayan

HAND1, partially mediated through ape-specific LTR binding, is essential for human extra-embryonic mesenchyme derivation from iPSCs.

HAND1 部分通过猿类特异性 LTR 结合介导,对于从 iPSC 衍生出人类胚外间充质至关重要

Liu Zukai, Tan Yuliana, Flynn William F, Sun Lili, Pratumkaew Ponthip, Alcoforado Diniz Juliana, Oliveira Nelio A J, McDonough Justin A, Skarnes William C, Robson Paul

A novel inducible CRISPRi tool, CRISPRi‐Cre, to study neuron‐specific phenotypes in iPSC‐derived neuron models of Alzheimer's Disease

一种新型可诱导的CRISPRi工具CRISPRi-Cre,用于研究阿尔茨海默病iPSC衍生神经元模型中的神经元特异性表型

Chang, Shuaibin; Varadarajan, Divya; Yang, Jiarui; Chen, Ichun Anderson; Kura, Sreekanth; Magnain, Caroline; Augustinack, Jean C; Fischl, Bruce; Greve, Douglas N; Boas, David A; Wang, Hui; Ramos, Daniel M; Nelson, Matthew P; Calzada, Liz; Krishna, Sanjana; Neuman, Samuel S; Weller, Cory; Johnson, Nicholas; Nalls, Mike A; Lara, Erika; Qi, Andy; Santiana, Marianita; Pantazis, Caroline; Skarnes, William C; Singleton, Andrew; Cookson, Mark R; Ward, Michael

A Xeno-Free Protocol for Rapid Differentiation of Human iPSC-Derived Microglia from the KOLF2.1J Reference Line

一种利用KOLF2.1J参考系快速分化人iPSC衍生小胶质细胞的无异种成分方案

Oliveira, Nélio A J; Lewkowicz, Katherine R; Clow, Patricia A; Ward, Michael E; Cookson, Mark R; Skarnes, William C; McDonough, Justin A

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons

与斜视相关的 4 号染色体重复导致 iPSC 衍生的皮质神经元基因表达发生变化

Mayra Martinez-Sanchez, William Skarnes, Ashish Jain, Sampath Vemula, Liang Sun, Shira Rockowitz, Mary C Whitman

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical Organoids

癫痫相关的SCN2A-L1342P突变驱动人类皮质类器官网络过度兴奋和广泛的转录组变化

Olivero-Acosta, Maria I; Robinson, Morgan; Que, Zhefu; Zhang, Zaiyang; Harlow, Hope Elizabeth; Shankar, Vinayak; Hong, Seoyong; Wang, Muhan; Otterbacher, Conrad M; Kadono, Hina; Halurkar, Manasi; Kothandaraman, Harish; Lanman, Nadia; Nguyen, Trang; Wettschurack, Kyle; Zirkle, Benjamin; Yunis, Layan; Cui, Ningren; Chen, Xiaoling; Zhang, Jingliang; Wu, Jiaxiang; Skarnes, William C; Yuan, Chongli; Guo, Feng; Yang, Yang