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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Dual-function oral nanotherapeutic mitigates sepsis-like multi-organ failure by targeting inflammatory and fibrotic pathways

双功能口服纳米疗法通过靶向炎症和纤维化通路减轻脓毒症样多器官衰竭

Asenso, James; Choudhury, Neha; Ganugula, Raghu; Posey, Tyler; Arora, Meenakshi; Ravi Kumar, M N V

Single-chain IL-23 secretion by CAR-T cells improves tumor control and persistence against solid tumors

CAR-T细胞分泌的单链IL-23可改善肿瘤控制并增强对实体瘤的持久性

Keane, John T; Degaramo, David A; Sosnoski, Heather M; Brookens, Shawna K; Lewis, Hyeon-Gyu S; Liu, Fang; Posey, Avery D Jr

Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations

Alu/Alu介导的基因组重排在人类群体中广泛分布,导致多种孟德尔遗传病和癌症的发生。

Duan, Ruizhi Vince; Du, Haowei; Pande, Shruti; Saad, Ahmed K; Atik, Meryem M; Jamsandekar, Minal; Coveler, Karen J; Dardas, Zain; Jhangiani, Shalini N; Posey, Jennifer E; Gibbs, Richard A; Lupski, James R

CD2 costimulation bridges potent CAR-induced cytolysis and durable persistence

CD2共刺激连接了强效的CAR诱导细胞溶解和持久的持久性

Liu, Fang; Keane, John T; Lewis, Hyeon S; King-Peoples, Tiffany R; June, Carl H; Posey, Avery D

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

Tuberculosis Disease and Infection in US-Bound International Adoptees: 2016 to 2023

2016年至2023年赴美国际收养儿童的结核病和感染情况

Liu, Yecai; Phares, Christina R; Logan, Pamela; Weinberg, Michelle S; Toney, Sean; Posey, Drew L; Soda, Elizabeth

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

Glycoengineering CAR-T cells to overcome galectin-3-mediated immunosuppression

利用糖基工程改造CAR-T细胞以克服半乳糖凝集素-3介导的免疫抑制

Lau, Lee Seng; Suarez, Maria; Fernandez, Brandon; Souchak, Joseph; Antonopoulos, Aristotelis; Hu, Nan; Abreu, Maria M; Koehne, Guenther; Dell, Anne; Haslam, Stuart M; Posey, Avery D Jr; Dimitroff, Charles J

Methodology for a freshly engineered or cryo-preserved 3D tuberculoma bioplatform for studying tuberculosis biology and high-content screening of therapeutics.

用于研究结核病生物学和高内涵疗法筛选的新鲜工程化或冷冻保存的 3D 结核瘤生物平台的方法。

Sable Suraj B, Kline Allison, Li Wen, Posey James E