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

Transcriptomic classification of diffuse large B-cell lymphoma identifies a high-risk activated B-cell-like subpopulation with targetable MYC dysregulation

弥漫性大B细胞淋巴瘤的转录组分类识别出具有可靶向MYC失调的高危活化B细胞样亚群

Matthew E Stokes,Kerstin Wenzl,C Chris Huang,María Ortiz,Chih-Chao Hsu,Matthew J Maurer,Nicholas Stong,Yumi Nakayama,Lei Wu,Hsiling Chiu,Ann Polonskaia,Samuel A Danziger,Fadi Towfic,Joel Parker,Rebecca L King,Brian K Link,Susan L Slager,Vivekananda Sarangi,Yan W Asmann,Joseph P Novak,Akshay Sudhindra,Stephen M Ansell,Thomas M Habermann,Patrick R Hagner,Grzegorz S Nowakowski,James R Cerhan,Anne J Novak #,Anita K Gandhi #

ETV4-Dependent Transcriptional Plasticity Maintains MYC Expression and Results in IMiD Resistance in Multiple Myeloma

ETV4 依赖的转录可塑性维持 MYC 表达并导致多发性骨髓瘤产生 IMiD 耐药性

Paola Neri #, Benjamin G Barwick #, David Jung, Jonathan C Patton, Ranjan Maity, Ines Tagoug, Caleb K Stein, Remi Tilmont, Noemie Leblay, Sungwoo Ahn, Holly Lee, Seth J Welsh, Daniel L Riggs, Nicholas Stong, Erin Flynt, Anjan Thakurta, Jonathan J Keats, Sagar Lonial, P Leif Bergsagel, Lawrence H Boi

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

microRNA 处理器 DROSHA 是一种严重进行性神经系统疾病的候选基因

Scott Barish, Mumine Senturk, Kelly Schoch, Amanda L Minogue, Diego Lopergolo, Chiara Fallerini, Jake Harland, Jacob H Seemann, Nicholas Stong, Peter G Kranz, Sujay Kansagra, Mohamad A Mikati, Joan Jasien, Mays El-Dairi, Paolo Galluzzi; Undiagnosed Diseases Network; Francesca Ariani, Alessandra Reni

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

MYBPC1 杂合变异与关节挛缩以外的神经肌肉表型扩展相关

Vandana Shashi, Janelle Geist, Youngha Lee, Yongjin Yoo, Unbeom Shin, Kelly Schoch, Jennifer Sullivan, Nicholas Stong, Edward Smith, Joan Jasien, Peter Kranz; Undiagnosed Diseases Network; Yoonsung Lee, Yong Beom Shin, Nathan T Wright, Murim Choi, Aikaterini Kontrogianni-Konstantopoulos

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

TBX2 的功能变异与心血管和骨骼发育障碍综合征有关

Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen L Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, E

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

PPP3CA基因的新生突变导致严重的神经发育障碍并伴有癫痫发作

Candace T Myers ,Nicholas Stong ,Emily I Mountier ,Katherine L Helbig ,Saskia Freytag ,Joseph E Sullivan ,Bruria Ben Zeev ,Andreea Nissenkorn ,Michal Tzadok ,Gali Heimer ,Deepali N Shinde ,Arezoo Rezazadeh ,Brigid M Regan ,Karen L Oliver ,Michelle E Ernst ,Natalie C Lippa ,Maureen S Mulhern ,Zhong Ren ,Annapurna Poduri ,Danielle M Andrade ,Lynne M Bird ,Melanie Bahlo ,Samuel F Berkovic ,Daniel H Lowenstein ,Ingrid E Scheffer ,Lynette G Sadleir ,David B Goldstein ,Heather C Mefford ,Erin L Heinzen

Mapping H4K20me3 onto the chromatin landscape of senescent cells indicates a function in control of cell senescence and tumor suppression through preservation of genetic and epigenetic stability

将 H4K20me3 映射到衰老细胞的染色质景观上,表明其通过保持遗传和表观遗传稳定性来控制细胞衰老和肿瘤抑制

David M Nelson, Farah Jaber-Hijazi, John J Cole, Neil A Robertson, Jeffrey S Pawlikowski, Kevin T Norris, Steven W Criscione, Nikolay A Pchelintsev, Desiree Piscitello, Nicholas Stong, Taranjit Singh Rai, Tony McBryan, Gabriel L Otte, Colin Nixon, William Clark, Harold Riethman, Hong Wu, Gunnar Scho

Subtelomeric p53 binding prevents accumulation of DNA damage at human telomeres

亚端粒 p53 结合可防止人类端粒处 DNA 损伤的积累

Stephen Tutton, Greggory A Azzam, Nicholas Stong, Olga Vladimirova, Andreas Wiedmer, Jessica A Monteith, Kate Beishline, Zhuo Wang, Zhong Deng, Harold Riethman, Steven B McMahon, Maureen Murphy, Paul M Lieberman

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

ASXL2基因的新生截断变异与一种独特且可识别的临床表型相关

Vandana Shashi,Loren D M Pena,Katherine Kim,Barbara Burton,Maja Hempel,Kelly Schoch,Magdalena Walkiewicz,Heather M McLaughlin,Megan Cho,Nicholas Stong,Scott E Hickey,Christine M Shuss

Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline

使用改进的亚端粒组装和新型注释流程组织亚端粒 CTCF 和黏连蛋白结合位点

Nicholas Stong, Zhong Deng, Ravi Gupta, Sufen Hu, Shiela Paul, Amber K Weiner, Evan E Eichler, Tina Graves, Catrina C Fronick, Laura Courtney, Richard K Wilson, Paul M Lieberman, Ramana V Davuluri, Harold Riethman