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

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis

SMCHD1缺失介导的DNMT3B剪接失调导致DUX4过表达和FSHD发病机制。

Eden Engal ,Aveksha Sharma ,Uria Aviel ,Nadeen Taqatqa ,Sarah Juster ,Shiri Jaffe-Herman ,Mercedes Bentata ,Ophir Geminder ,Adi Gershon ,Reyut Lewis ,Gillian Kay ,Merav Hecht ,Silvina Epsztejn-Litman ,Marc Gotkine ,Vincent Mouly ,Rachel Eiges ,Maayan Salton ,Yotam Drier

The chromosomal protein SMCHD1 regulates DNA methylation and the 2c-like state of embryonic stem cells by antagonizing TET proteins

染色体蛋白 SMCHD1 通过拮抗 TET 蛋白来调节 DNA 甲基化和胚胎干细胞的 2c 样状态

Zhijun Huang, Jiyoung Yu, Wei Cui, Benjamin K Johnson, Kyunggon Kim, Gerd P Pfeifer

Deletion of the XIST promoter from the human inactive X chromosome compromises polycomb heterochromatin maintenance

从人类失活 X 染色体中删除 XIST 启动子会损害多梳异染色质的维持

Natalia Westervelt #, Andrea Yoest #, Sadia Sayed, Marina Von Zimmerman, Kelly Kaps, Brian P Chadwick

SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres

SMCHD1 促进 ATM 依赖的 DNA 损伤信号和脱帽端粒的修复

Aleksandra Vančevska, Wareed Ahmed #, Verena Pfeiffer #, Marianna Feretzaki, Simon J Boulton, Joachim Lingner

Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome

对结构异常的非活性 X 染色体染色质的表征揭示了罕见的混合活性和非活性同着丝粒 X 染色体的潜在证据

Brian P Chadwick

Loss of SETDB1 decompacts the inactive X chromosome in part through reactivation of an enhancer in the IL1RAPL1 gene

SETDB1 的缺失会通过重新激活 IL1RAPL1 基因中的增强子,部分解除非活性 X 染色体的压缩

Zhuo Sun, Brian P Chadwick

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

Smchd1 单倍体不足加剧了转基因 FSHD1 小鼠模型的表型

Jessica C de Greef, Yvonne D Krom, Bianca den Hamer, Lauren Snider, Yosuke Hiramuki, Rob F P van den Akker, Kelsey Breslin, Miha Pakusch, Daniela C F Salvatori, Bram Slütter, Rabi Tawil, Marnie E Blewitt, Stephen J Tapscott, Silvère M van der Maarel

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

与罕见的肌肉营养不良症相关的 SMCHD1 突变也可能导致孤立性无鼻症和 Bosma 无鼻症小眼综合征

Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Sha

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

Smchd1 介导的表观遗传调控的全基因组结合和机制分析

Kelan Chen, Jiang Hu, Darcy L Moore, Ruijie Liu, Sarah A Kessans, Kelsey Breslin, Isabelle S Lucet, Andrew Keniry, Huei San Leong, Clare L Parish, Douglas J Hilton, Richard J L F Lemmers, Silvère M van der Maarel, Peter E Czabotar, Renwick C J Dobson, Matthew E Ritchie, Graham F Kay, James M Murphy,

Loss of WSTF results in spontaneous fluctuations of heterochromatin formation and resolution, combined with substantial changes to gene expression

WSTF 的缺失会导致异染色质形成和分解的自发波动,并伴随基因表达的重大变化

Ashley E Culver-Cochran, Brian P Chadwick