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

Mapping genetic effects on splicing in ten thousand post-mortem brain samples reveals novel mediators of neurological disease risk

通过对一万份死后脑组织样本进行基因剪接效应分析,揭示了神经系统疾病风险的新介质。

Réal, Aline; Bp, Kailash; Dredge, Winston H; Muller, Benjamin Z; Jang, Beomjin; Tokolyi, Alex; Won, Hong-Hee; Humphrey, Jack; Raj, Towfique; Knowles, David A

Meta-analysis of genetic regulation of RNA editing in the human brain identifies new genes underlying neurological disease

对人类大脑中RNA编辑基因调控的荟萃分析发现了与神经系统疾病相关的新基因

Dredge, Winston H; Bp, Kailash; Réal, Aline; Muller, Benjamin Z; Jang, Beomjin; Fu, Ting; Seo, Hyomin; Won, Hong-Hee; Breen, Michael S; Xiao, Xinshu; Knowles, David A; Humphrey, Jack; Raj, Towfique

LRRK2 G2019S variant is associated with transcriptional changes in Parkinson's disease human myeloid cells under proinflammatory environment.

LRRK2 G2019S 变异与帕金森病人类髓系细胞在促炎环境下的转录变化有关

Navarro Elisa, Efthymiou Anastasia G, Parks Madison, Riboldi Giulietta M, Vialle Ricardo A, Udine Evan, Muller Benjamin Z, Humphrey Jack, Allan Amanda, Argyrou Charlie Charalambos, Lopes Katia de Paiva, Münch Alexandra, Raymond Deborah, Sachdev Rivka, Shanker Vicki L, Miravite Joan, Katsnelson Viktoryia, Leaver Katherine, Frucht Steve, Bressman Susan B, Marcora Edoardo, Saunders-Pullman Rachel, Goate Alison, Raj Towfique

Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing.

新型小胶质细胞亚型的长读长 RNA-seq 图谱阐明了与疾病相关的剪接基因调控

Humphrey Jack, Brophy Erica, Kosoy Roman, Zeng Biao, Coccia Elena, Mattei Daniele, Ravi Ashvin, Efthymiou Anastasia G, Navarro Elisa, Muller Benjamin Z, Snijders Gijsje Jlj, Allan Amanda, Münch Alexandra, Kitata Reta Birhanu, Kleopoulos Steven P, Argyriou Stathis, Shao Zhiping, Francoeur Nancy, Tsai Chia-Feng, Gritsenko Marina A, Monroe Matthew E, Paurus Vanessa L, Weitz Karl K, Shi Tujin, Sebra Robert, Liu Tao, de Witte Lot D, Goate Alison M, Bennett David A, Haroutunian Vahram, Hoffman Gabriel E, Fullard John F, Roussos Panos, Raj Towfique