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

The ubiquitin ligase KLHL6 drives resistance to CD8(+) T cell dysfunction.

泛素连接酶 KLHL6 驱动对 CD8(+) T 细胞功能障碍的抵抗力。

Cheng Hongcheng, Su Yapeng, Pan Xiaoli, Xu Yue, Xie Ermei, Du Jing, Chen Daniel G, Dai Xiaomeng, Gottardo Raphael, Greenberg Philip D, Li Guideng

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

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

Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial

每周一次使用萘培格里肽治疗软骨发育不全患儿:APPROACH随机临床试验

Savarirayan, Ravi; McDonnell, Ciara; Bacino, Carlos A; Hoernschemeyer, Daniel G; Legare, Janet M; Abuzzahab, M Jennifer; Hofman, Paul L; Campeau, Philippe M; de Bergua Domingo, Josep Maria; Ward, Leanne M; Smit, Kevin; Smith, Alden; Mao, Meng; Ominsky, Michael S; Freiberg, Lærke C; Shu, Aimee D; Hove, Hanne B

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Conditional BCL-2 Expression in Fibroblasts Promotes Persistent Pulmonary Fibrosis which is Reversible by Therapeutic BCL-2 Inhibition.

成纤维细胞中条件性 BCL-2 表达促进持续性肺纤维化,而治疗性 BCL-2 抑制可逆转这一过程。

Redente Elizabeth F, Song Tengyao, Javkhlan Nomin, Edelman Benjamin L, Foster Daniel G, Wilson Jasmine A, Chakraborty Sangeeta, Cooley Joseph C, Gaurav Rohit, Saguthi Satria, Seibold Max A, Blumhagen Rachel Z, Schwartz David A, Yang Ivana V, Matsuda Jennifer, Bridges James P, Zemans Rachel L, Tuder Rubin M, Riches David W H

A CD8αβ co-receptor modified to contain an intracellular CD28 signaling tail enhances TCR-engineered T cell function independent of solid-tumor-associated co-stimulatory ligands

经过修饰,含有胞内 CD28 信号尾的 CD8αβ 共受体可增强 TCR 工程化 T 细胞的功能,且该功能不依赖于实体瘤相关的共刺激配体。

Shihong Zhang #,Tzu-Hao Tang #,Sinéad Kinsella #,Francesco Mazziotta,Michael T Schweizer,Megan S McAfee,Ariunaa Munkhbat,Yapeng Su,Valentin Voillet,Lauren E Martin,Colton W Smith,Yuta Asano,Menna Hailemariam,Jakob Bakhtiari,Bo Lee,Cecilia Yeung,Hung Chen,Alessandro M Rizzi,Daniel G Chen,Kelsey Furiya,Nick Horst,Tianzi Zhang,Phung Le,Kelly McKenna,Shannon K Oda,Anthony Rongvaux,Phillip D Greenberg,Thomas M Schmitt,Aude G Chapuis

Disulfiram metabolite Cu(DDC)(2) enhances radionuclide uptake in vivo revealing insights into tumoural ablation resistance

双硫仑代谢物 Cu(DDC)₂ 可增强体内放射性核素的摄取,揭示肿瘤消融耐药机制。

Brookes, Katie; Fear, Jessica S; Thornton, Caitlin E M; Zha, Ling; Kim, Jana; Small, Benjamin; Wongsanit, Sarinya; Nieto, Hannah R; Adcock, Holly; Jones, Adam; Pham, Truc T; Bottegoni, Giovanni; Cox, Liam R; Kannappan, Vinodh; Wang, Weiguang; Gorvin, Caroline M; Stover, Daniel G; Spitzweg, Christine; Jhiang, Sissy; Ringel, Matthew D; Campbell, Moray J; Sunassee, Kavitha; Blower, Philip J; Boelaert, Kristien; Smith, Vicki E; Read, Martin L; McCabe, Christopher J

Programmable Lipid Functionalization of Nucleic Acid Nanoparticles Modulates Liver Cell-Type Targeting.

核酸纳米粒子的可编程脂质功能化调节肝细胞类型靶向性。

Kim Hyun Min, Omer Marjan, Knappe Grant A, McMullen Patrick, Le Duy An, Pasupathy Ashwin, Anderson Daniel G, Bathe Mark

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee