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

Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome

调控MECP2的选择性剪接是治疗雷特综合征的一种潜在策略。

Tirumala, Harini P; Wang, Li; Li, Yan; Bajikar, Sameer S; Anderson, Ashley G; Wang, Wei; Trostle, Alexander J; Zahabiyon, Mahla; Bajic, Aleksandar; Kim, Jean J; Chen, Hu; Liu, Zhandong; Zoghbi, Huda Y

Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis

成年小鼠急性 MeCP2 缺失揭示了先于神经功能障碍发生的转录和染色质变化,并提示发病机制

Sameer S Bajikar, Jian Zhou, Ryan O'Hara, Harini P Tirumala, Mark A Durham, Alexander J Trostle, Michelle Dias, Yingyao Shao, Hu Chen, Wei Wang, Hari Krishna Yalamanchili, Ying-Wooi Wan, Laura A Banaszynski, Zhandong Liu, Huda Y Zoghbi

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

MECP2 重复综合征中的结构变异等位基因异质性有助于了解临床严重程度和疾病表达的变化

Davut Pehlivan #, Jesse D Bengtsson #, Sameer S Bajikar #, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeld

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels

对 MECP2 重复综合征人类 iPSC 衍生神经元中的反义寡核苷酸疗法进行建模,揭示了对 MeCP2 水平有反应的基因表达程序

Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, Harini P Tirumala, Ying-Wooi Wan, Caroline L Harrop, Jesse D Bengtsson, Claudia M B Carvalho, Davut Pehlivan, Bernhard Suter, Jeffrey L Neul, Zhandong Liu, Paymaan Jafar-Nejad, Frank Rigo, Huda Y Zoghbi1

MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function

MeCP2 调节 Gdf11,一种对神经功能至关重要的剂量敏感基因

Sameer S Bajikar, Ashley G Anderson, Jian Zhou, Mark A Durham, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Huda Y Zoghbi

A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels

MeCP2 的新型致病突变会损害染色质结合,且不依赖于蛋白质水平

Jian Zhou #, Claudia Cattoglio #, Yingyao Shao #, Harini P Tirumala, Carlo Vetralla, Sameer S Bajikar, Yan Li, Hu Chen, Qi Wang, Zhenyu Wu, Bing Tang, Mahla Zahabiyon, Aleksandar Bajic, Xiangling Meng, Jack J Ferrie, Anel LaGrone, Ping Zhang, Jean J Kim, Jianrong Tang, Zhandong Liu, Xavier Darzacq, 

Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders

MeCP2-TCF20 复合物的破坏是导致不同神经发育障碍的根本原因

Jian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E Pohodich, Joanna Lopez, Yingyao Shao, Juan A Oses-Prieto, Lifang Li, Wonho Kim, Mark A Durham, Sameer S Bajikar, Donna J Palmer, Philip Ng, Michelle L Thompson, E Martina Bebin, Amelie J Müller, Alma Kuechler, Antje Kampmeier, 

Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome

在MECP2重复综合征的人源化小鼠模型中应用反义寡核苷酸疗法

Shao, Yingyao; Sztainberg, Yehezkel; Wang, Qi; Bajikar, Sameer S; Trostle, Alexander J; Wan, Ying-Wooi; Jafar-Nejad, Paymaan; Rigo, Frank; Liu, Zhandong; Tang, Jianrong; Zoghbi, Huda Y

Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions

鉴定和表征影响 Mecp2 表达和神经功能的保守非编码顺式调控元件

Shao, Yingyao; Bajikar, Sameer S; Tirumala, Harini P; Gutierrez, Manuel Cantu; Wythe, Joshua D; Zoghbi, Huda Y

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

杂合功能缺失变异显著扩展了与 GDF11 缺失相关的表型

Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine S C; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J