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

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis

使用患者来源的细胞模型来表征孤立性肾痨患者的复合杂合低等位基因 C2CD3 变异

Zachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, Sima Babayeva, Marc Henein, Lee Lee Chu, Murielle M Akpa, Chen-Fang Chung, Jean-Baptiste Rivière, Mihaela Pupavac, Rui Li, David S Rosenblatt, Jacek Majewski, Paul R Goodyer, Elena Torban, Thomas M Kitzler

Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylation

SETD2、NSD1、NSD2、NSD3 和 ASH1L 的系统性扰动揭示了它们对 H3K36 甲基化的不同贡献

Gerry A Shipman #, Reinnier Padilla #, Cynthia Horth, Bo Hu, Eric Bareke, Francisca N Vitorino, Joanna M Gongora, Benjamin A Garcia, Chao Lu, Jacek Majewski

Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes

SF3B4 相关综合征小鼠模型中颅面及心脏畸形的病因

Shruti Kumar, Eric Bareke, Jimmy Lee, Emma Carlson, Fjodor Merkuri, Evelyn E Schwager, Steven Maglio, Jennifer L Fish, Jacek Majewski, Loydie A Jerome-Majewska

Histone methylation antagonism drives tumor immune evasion in squamous cell carcinomas

组蛋白甲基化拮抗作用驱动鳞状细胞癌的肿瘤免疫逃逸

Yinglu Li ,Elizabeth M Goldberg ,Xiao Chen ,Xinjing Xu ,John T McGuire ,Giuseppe Leuzzi ,Dimitris Karagiannis ,Tiffany Tate ,Nargess Farhangdoost ,Cynthia Horth ,Esther Dai ,Zhiming Li ,Zhiguo Zhang ,Benjamin Izar ,Jianwen Que ,Alberto Ciccia ,Jacek Majewski ,Angela J Yoon ,Laurie Ailles ,Cathy Lee Mendelsohn ,Chao Lu

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

BCOR(CRX/OTX2 的共抑制因子)的突变与早发性视网膜变性相关。

Maéva Langouët,Christine Jolicoeur,Awais Javed,Pierre Mattar,Micah D Gearhart,Stephen P Daiger,Mette Bertelsen,Lisbeth Tranebjærg,Nanna D Rendtorff,Karen Grønskov,Catherine Jespersgaard,Rui Chen,Zixi Sun,Hui Li,Najmeh Alirezaie,Jacek Majewski,Vivian J Bardwell,Ruifang Sui,Robert K Koenekoop,Michel Cayouette

Nucleome programming is required for the foundation of totipotency in mammalian germline development

核组编程是哺乳动物生殖细胞发育中全能性的基础。

Masahiro Nagano #,Bo Hu #,Shihori Yokobayashi,Akitoshi Yamamura,Fumiya Umemura,Mariel Coradin,Hiroshi Ohta,Yukihiro Yabuta,Yukiko Ishikura,Ikuhiro Okamoto,Hiroki Ikeda,Naofumi Kawahira,Yoshiaki Nosaka,Sakura Shimizu,Yoji Kojima,Ken Mizuta,Tomoko Kasahara,Yusuke Imoto,Killian Meehan,Roman Stocsits,Gordana Wutz,Yasuaki Hiraoka,Yasuhiro Murakawa,Takuya Yamamoto,Kikue Tachibana,Jan-Michel Peters,Leonid A Mirny,Benjamin A Garcia,Jacek Majewski,Mitinori Saitou

Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data

通过多组学数据的结合与整合,检测和基因组分析青少年毛细胞星形细胞瘤中的BRAF融合基因

Melissa Zwaig ,Audrey Baguette ,Bo Hu ,Michael Johnston ,Hussein Lakkis ,Emily M Nakada ,Damien Faury ,Nikoleta Juretic ,Benjamin Ellezam ,Alexandre G Weil ,Jason Karamchandani ,Jacek Majewski ,Mathieu Blanchette ,Michael D Taylor ,Marco Gallo ,Claudia L Kleinman ,Nada Jabado ,Jiannis Ragoussis

Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islands

DNMT3A募集的两种竞争机制调控PRC1靶向CpG岛处新生DNA甲基化的动态过程。

Daniel N Weinberg # ,Phillip Rosenbaum # ,Xiao Chen ,Douglas Barrows ,Cynthia Horth ,Matthew R Marunde ,Irina K Popova ,Zachary B Gillespie ,Michael-Christopher Keogh ,Chao Lu ,Jacek Majewski ,C David Allis

Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma

头颈部鳞状细胞癌中 NSD1 突变相关的染色质失调

Nargess Farhangdoost, Cynthia Horth, Bo Hu, Eric Bareke, Xiao Chen, Yinglu Li, Mariel Coradin, Benjamin A Garcia, Chao Lu, Jacek Majewski

Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53

Eftud2 突变通过 Mdm2 错误剪接和 P53 增加导致小鼠颅面缺陷

Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, Fjodor Merkuri, Rachel Aber, Annie S Tam, Matthew A Lines, Kym M Boycott, Peter C Stirling, Jennifer L Fish, Jacek Majewski, Loydie A Jerome-Majewska