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

Genomic mechanisms of resistance to venetoclax in multiple myeloma with t(11;14)(CCND1;IGH)

t(11;14)(CCND1;IGH)多发性骨髓瘤对维奈托克耐药的基因组机制

Kaddoura, Marcella; Wiedmeier-Nutor, J Erin; Gupta, Vikas A; Jelinek, Tomas; Ziccheddu, Bachisio; Shivaram, Suganti; Tang, Hongwei; Owens, Rebecca W; Sevcikova, Tereza; Fonseca, Rodrigo; Durante, Michael; Diamond, Benjamin; Zhao, Logan; Zhu, Yuan X; Shi, Chang-Xin; Matulis, Shannon M; Mitsiades, Constantine S; Landgren, Ola; Usmani, Saad; Hajek, Roman; Chesi, Marta; Bergsagel, P Leif; Braggio, Esteban; Boise, Lawrence H; Fonseca, Rafael; Kumar, Shaji; Maura, Francesco; Baughn, Linda B

Ectopic expression of cytosolic DHODH uncouples de novo pyrimidine biosynthesis from mitochondrial electron transport.

胞质 DHODH 的异位表达使嘧啶从头合成与线粒体电子传递脱钩。

Curtabbi Andrea, Jaroszewicz Sara Natalia, Sanz-Cortés Rocío, Acín-Pérez Rebeca, Prymidis Dimitrios, Cherevatenko Maksym, Martínez-de-Mena Raquel, Esteban-Amo María Jesús, de la Fuente Miguel A, Frezza Christian, Enríquez José Antonio

Rare coding variants in CHRNB3 associate with reduced daily cigarette smoking across ancestries

CHRNB3基因中的罕见编码变异与不同族裔人群的每日吸烟量减少有关

Rajagopal, Veera M; Ziyatdinov, Andrey; Joseph, Tyler; Ayer, Ariane; Ahmed, Mohsin; Mbatchou, Joelle; Zou, Yuxin; Averitt, Amelia J; Banerjee, Nilanjana; Cantor, Michael; Torres, Jason M; Chen, Esteban; Varela, Jennifer Rico; Jones, Marcus; Overton, John; Harari, Olivier; Lotta, Luca; Abecasis, Gonçalo; Baras, Aris; Berumen, Jaime; Kuri-Morales, Pablo; Alegre-Díaz, Jesús; Tapia-Conyer, Roberto; Collins, Rory; Emberson, Jonathan R; Marchini, Jonathan; Coppola, Giovanni

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Characterization of flexible RNA binding by tandem RNA recognition motifs through integrative ensemble modelling

通过整合集成建模表征串联RNA识别基序对柔性RNA结合的表征

Nguyen, Cristina K X; Esteban-Hofer, Laura; Damberger, Fred F; Yulikov, Maxim; Güntert, Peter; Galazzo, Laura; Cléry, Antoine; Jeschke, Gunnar; Allain, Frédéric H-T

Administration of a barcoded AAV capsid library to the putamen of non-human primates identifies variants with efficient retrograde transport.

将带有条形码的 AAV 衣壳文库施用于非人灵长类动物的壳核,以鉴定具有高效逆行运输能力的变体。

Dzhashiashvili Yulia, McBride Jodi L, Fabyanic Emily, Huang Xin, Kelly Brian M, Walton-Gibbs Greglynn D, Vemireddi Vimala, Wicks Joan, Nayal Mohamad, Hippen Ariel A, Yu Zhenming, Raman Pichai, Ramsburg Elizabeth, Davidsson Marcus, Engel Esteban A, Björklund Tomas

Childhood Mortality by Parental Cause of Death

按父母死因划分的儿童死亡率

McCabe, Sean Esteban; Kcomt, Luisa; Evans-Polce, Rebecca J; Radford, Glenn; Tennant, Samuel D; Hulsey, Eric; McCabe, Vita V

Microvascular phenotypes in pediatric sepsis identified by machine learning: prognostic implications for organ dysfunction and mortality

利用机器学习识别儿童脓毒症的微血管表型:对器官功能障碍和死亡率的预后意义

Beltrán, Juan Carlos; Fernández-Sarmiento, Jaime; Orjuela-Cañón, Alvaro David; Sanchez-Pinto, L Nelson; Fernández-Sarta, Juan Pablo; Rotta, Isabella La; Fernández-Sarta, Daniel; Coutin, Alejandro; Godoy, Juan Esteban; Vink, Hans; Raman, Sainath; Kissoon, Niranjan

Chronic hypoxia adaptation at high altitude: a perspective on Its potential role in mortality in viral pneumonia-associated ARDS and implications for personalized critical care

高海拔慢性缺氧适应:探讨其在病毒性肺炎相关急性呼吸窘迫综合征死亡率中的潜在作用及其对个体化重症监护的意义

Ortiz-Prado, Esteban; Cadena-Padilla, María Paz; Vélez-Páez, Jorge Luis; Vasconez-Gonzalez, Jorge; Izquierdo-Condoy, Juan S; Vergara, Micaela; Viscor, Ginés

Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies

利用TOPMed MESA中功能性变异进行多祖先转录组预测可提高全转录组关联研究的性能

Hu, Xiaowei; Araujo, Daniel S; Khunsriraksakul, Chachrit; Wang, Lida; Sun, Quan; Wen, Jia; Zhou, Lingbo; Ekunwe, Lynette; Lange, Leslie A; Lange, Ethan M; Montgomery, Stephen B; Reiner, Alexander P; Aguet, Francois; Ardlie, Kristin G; Lappalainen, Tuuli; Gignoux, Christopher R; Burchard, Esteban G; Taylor, Kent D; Guo, Xiuqing; Rotter, Jerome I; Rich, Stephen S; Cornell, Elaine; Durda, Peter; Tracy, Russell P; Liu, Yongmei; Johnson, W Craig; Papanicolaou, George P; Perera, Minoli A; Cho, Michael H; Liu, Dajiang J; Raffield, Laura M; Li, Yun; Wheeler, Heather E; Im, Hae Kyung; Manichaikul, Ani