未登录 Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy C19orf44基因的双等位基因无义变异导致一种独特的迟发性视网膜营养不良表型，其特征为斑片状黄斑周围脉络膜视网膜萎缩。 Ehrenberg, Miriam; Avraham, Maayan; Asodu, Sandeep Sarma; Moye, Abigail R.; Sangermano, Riccardo; Rizel, Leah; Ali-Nasser, Tahleel; Sher, Ifat; Gurwitz, David; Chao, Katherine R.; Rivera, Antonio; Webster, Andrew R.; Rivolta, Carlo; Newman, Hadas; Pras, Eran; Rotenstreich, Ygal; Banin, Eyal; Pierce, Eric A.; Zur, Dinah; Arno, Gavin; Bujakowska, Kinga M.; Lin, Siying; Sharon, Dror; Ben-Yosef, Tamar 分享 收藏
Description of a novel extremophile green algae, Chlamydomonas pacifica, and its potential as a biotechnology host 一种新型极端环境绿藻 Chlamydomonas pacifica 的描述及其作为生物技术宿主的应用潜力 Molino, VD; Oliver, A; Sethuram, H; Kang, K; Saucedo, B; Diaz, CJ; Gupta, A; Jen, LJ; Torres-tiji, Y; Hidasi, N; Badary, A; Jenkins, H; Fields, FJ; Simkovsky, R; Mayfield, S 分享 收藏
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Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice 对引起亨廷顿病和弗里德赖希共济失调的三核苷酸重复序列进行碱基编辑，可降低患者细胞和小鼠中的体细胞重复序列扩增。 Matuszek, Zaneta; Arbab, Mandana; Kesavan, Maheswaran; Hsu, Alvin; Roy, Jennie C. L.; Zhao, Jing; Yu, Tian; Weisburd, Ben; Newby, Gregory A.; Doherty, Neil J.; Wu, Muzhou; Shibata, Shota; Cristian, Ana; Tao, Y. Allen; Fearnley, Liam G.; Bahlo, Melanie; Rehm, Heidi L.; Xie, Jun; Gao, Guangping; Mouro Pinto, Ricardo; Liu, David R. 分享 收藏
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker 证据表明，米诺环素治疗干扰了将神经丝蛋白作为生物标志物的解释。 Gentile, Juliana E.; Heiss, Christina N.; Corridon, Taylor L.; Mortberg, Meredith A.; Fruhwurth, Stefanie; Guzman, Kenia; Grotschel, Lana; Montoliu-Gaya, Laia; Chan, Kwan; Herring, Neil C.; Janicki, Timothy; Nhass, Rajaa; Sarathy, Janani Manavala; Erickson, Brian; Kunz, Ryan; Erickson, Alison; Braun, Craig; Henry, Katherine T.; Bry, Lynn; Arnold, Steven E.; Minikel, Eric Vallabh; Zetterberg, Henrik; Vallabh, Sonia M. 分享 收藏
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Three-dimensional genome landscape of primary human cancers 原发性人类癌症的三维基因组景观 Yost, Kathryn E.; Zhao, Yanding; Hung, King L.; Zhu, Kaiyuan; Xu, Duo; Corces, M. Ryan; Shams, Shadi; Louie, Bryan H.; Sarmashghi, Shahab; Sundaram, Laksshman; Luebeck, Jens; Clarke, Stanley; Doane, Ashley S.; Granja, Jeffrey M.; Choudhry, Hani; Imielinski, Marcin; Cherniack, Andrew D.; Khurana, Ekta; Bafna, Vineet; Felau, Ina; Zenklusen, Jean C.; Laird, Peter W.; Curtis, Christina; Greenleaf, William J.; Chang, Howard Y. 分享 收藏
Pancreatic cancer-restricted cryptic antigens are targets for T cell recognition 胰腺癌特异性隐蔽抗原是T细胞识别的靶点 Ely, Zackery A.; Kulstad, Zachary J.; Gunaydin, Gurcan; Addepalli, Sudarsana; Verzani, Eva K.; Casarrubios, Marta; Clauser, Karl R.; Wang, Xilin; Lippincott, Isabelle E.; Louvet, Cedric; Schmitt, Thomas; Kapner, Kevin S.; Agus, Miles P.; Hennessey, Connor J.; Cleary, James M.; Hadrup, Sine R.; Klaeger, Susan; Su, Jennifer; Jaeger, Alex M.; Wolpin, Brian M.; Raghavan, Srivatsan; Smith, Eric L.; Greenberg, Philip D.; Aguirre, Andrew J.; Abelin, Jennifer G.; Carr, Steven A.; Jacks, Tyler; Freed-Pastor, William A. 分享 收藏
PIEZO1 Activation-Mediated Generation of Transgene-Free Long-Term Hematopoietic Stem Cells PIEZO1激活介导的无转基因长期造血干细胞的生成 Scapin, G; Cillis, JL; Goulard, MC; Patch, TC; Limia, CEG; Ding, YC; Du, WQ; Dharampuriya, PR; Hagedorn, EJ; Anderson, H; Musso, GA; Curley, CR; Teets, EM; MacRae, CA; Sehgal, L; Hsiai, TK; Blaser, BW; Shah, DI 分享 收藏
Machine Learning for Toxicity Prediction Using Chemical Structures: Pillars for Success in the Real World 基于化学结构的毒性预测机器学习：现实世界成功的基石 Seal, Srijit; Mahale, Manas; Garcia-Ortegon, Miguel; Joshi, Chaitanya K.; Hosseini-Gerami, Layla; Beatson, Alex; Greenig, Matthew; Shekhar, Mrinal; Patra, Arijit; Weis, Caroline; Mehrjou, Arash; Badre, Adrien; Paisley, Brianna; Lowe, Rhiannon; Singh, Shantanu; Shah, Falgun; Johannesson, Bjarki; Williams, Dominic; Rouquie, David; Clevert, Djork-Arne; Schwab, Patrick; Richmond, Nicola; Nicolaou, Christos A.; Gonzalez, Raymond J.; Naven, Russell; Schramm, Carolin; Vidler, Lewis R.; Mansouri, Kamel; Walters, W. Patrick; Wilk, Deidre Dalmas; Spjuth, Ola; Carpenter, Anne E.; Bender, Andreas 分享 收藏
SlideCNA: spatial copy number alteration detection from Slide-seq-like spatial transcriptomics data SlideCNA: 从slide-seq-like空间转录组学数据中检测空间拷贝数改变 Zhang, Diane; Segerstolpe, Asa; Slyper, Michal; Waldman, Julia; Murray, Evan; Strasser, Robert; Watter, Jan; Cohen, Ofir; Ashenberg, Orr; Abravanel, Daniel; Jane-Valbuena, Judit; Mages, Simon; Lako, Ana; Helvie, Karla; Rozenblatt-Rosen, Orit; Rodig, Scott; Chen, Fei; Wagle, Nikhil; Regev, Aviv; Klughammer, Johanna 分享 收藏
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Structural insights into RNA-guided RNA editing by the Cas13b-ADAR2 complex Cas13b-ADAR2复合体介导的RNA引导RNA编辑的结构洞见 Ishikawa, Junichiro; Kato, Kazuki; Kannan, Soumya; Okazaki, Sae; Ishiguro, Soh; Yamashita, Keitaro; Yachie, Nozomu; Nishizawa, Tomohiro; Zhang, Feng; Nishimasu, Hiroshi 分享 收藏
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum 心衰在等位基因频率谱上的常见变异和罕见变异遗传结构 Lee, David S. M.; Cardone, Kathleen M.; Zhang, David Y.; Tsao, Noah L.; Abramowitz, Sarah; Sharma, Pranav; Depaolo, John S.; Conery, Mitchell; Aragam, Krishna G.; Biddinger, Kiran; Dilitikas, Ozan; Hoffman-Andrews, Lily; Judy, Renae L.; Khan, Atlas; Kullo, Iftikhar J.; Puckelwartz, Megan J.; Reza, Nosheen; Satterfield, Benjamin A.; Singhal, Pankhuri; Sirugo, Giorgio; Verma, Anurag; Verma, Shefali S.; Drivas, Theodore; Arany, Zoltan; Cappola, Thomas P.; Carruth, Eric D.; Day, Sharlene M.; Do, Ron; Haggerty, Christopher M.; Joseph, Jacob; Mcnally, Elizabeth M.; Nadkarni, Girish; Owens, Anjali T.; Rader, Daniel J.; Ritchie, Marylyn D.; Sun, Yan V.; Voight, Benjamin F.; Levin, Michael G.; Damrauer, Scott M. 分享 收藏
AOC 1044 induces exon 44 skipping and restores dystrophin protein in preclinical models of Duchenne muscular dystrophy AOC 1044诱导外显子44的跳跃，并在杜氏肌营养不良症的临床前模型中恢复了抗肌萎缩蛋白的表达。 Etxaniz, Usue; Marks, Isaac; Albin, Tyler; Diaz, Matthew; Bhardwaj, Raghav; Anderson, Aaron; Tyaglo, Olecya; Hoang, Tiffany; Missinato, Maria Azzurra; Svensson, Kristoffer; Badillo, Ben; Kovach, Philip R.; Leung, Laura; Cochran, Michael; Kwon, Hae Won; Ahad Shah, Md Nur; Maruyama, Rika; Yokota, Toshifumi; Doppalapudi, Venkata R.; Darimont, Beatrice; Younis, Husam S.; Flanagan, W. Michael; Levin, Arthur A.; Huang, Hanhua; Karamanlidis, Georgios 分享 收藏
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