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

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Injury-induced KIF4A neural expression and its role in Schwann cell proliferation suggest a dual function for this kinesin in neural regeneration.

损伤诱导的 KIF4A 神经表达及其在雪旺细胞增殖中的作用表明,这种驱动蛋白在神经再生中具有双重功能

Correia Patrícia D, de Sousa Bárbara M, Chato-Astrain Jesús, de Faria Joana Paes, Estrada Veronica, Relvas João B, Müller Hans W, Carriel Víctor, Bosse Frank, Vieira Sandra I

Fetal cardiac remodeling in second trimester in pregnancies with pre-eclampsia and/or fetal growth restriction: deep-learning-based approach using population-wide data

妊娠中期合并先兆子痫和/或胎儿生长受限的胎儿心脏重塑:基于人群数据的深度学习方法

Taksøe-Vester, C A; Mikolaj, K; Petersen, O B; Ekelund, C K; Vejlstrup, N G; Vedel, C; Christensen, A N; Feragen, A; Nielsen, M; Tolsgaard, M G

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

KRAS4a and KRAS4b show distinct lipid-dependent regulation of RAS-RAF membrane dynamics

KRAS4a 和 KRAS4b 对 RAS-RAF 膜动力学表现出不同的脂质依赖性调控作用

Georgouli, Konstantia; Tempkin, Jeremy O B; Stanton, Liam G; Oppelstrup, Tomas; Shrestha, Rebika; Carpenter, Timothy S; Aydin, Fikret; Zhang, Xiaohua; Bhatia, Harsh; Yang, Yue; Van, Que N; Bonilla, Pedro Andrade; Gulten, Gulcin; Goswami, Debanjan; Di Natale, Francesco; Chavez, Joseph R; Moon, Joseph Y; Dharuman, Gautham; Hengartner, Nicolas W; Simanshu, Dhirendra K; Tran, Timothy H; Nguyen, Kien; Stanley, Christopher B; Van Essen, Brian; Bremer, Peer-Timo; Lightstone, Felice C; Stephen, Andrew G; Glosli, James N; Gnanakaran, Sandrasegaram; Turbyville, Thomas J; McCormick, Frank; Nissley, Dwight V; Streitz, Frederick H; Ingólfsson, Helgi I

LinkML: an open data modeling framework

LinkML:一个开放的数据建模框架

Moxon, Sierra A T; Solbrig, Harold; Harris, Nomi L; Kalita, Patrick; Miller, Mark A; Patil, Sujay; Schaper, Kevin; Bizon, Chris; Caufield, J Harry; Cuesta, Silvano Cirujano; Cox, Corey; Dekervel, Frank; Dooley, Damion M; Duncan, William D; Fliss, Tim; Gehrke, Sarah; Graefe, Adam S L; Hegde, Harshad; Ireland, A J; Jacobsen, Julius O B; Krishnamurthy, Madan; Kroll, Carlo; Linke, David; Ly, Ryan; Matentzoglu, Nicolas; Overton, James A; Saunders, Jonny L; Unni, Deepak R; Vaidya, Gaurav; Vierdag, Wouter-Michiel A M; Ruebel, Oliver; Chute, Christopher G; Brush, Matthew H; Haendel, Melissa A; Mungall, Christopher J

SGLT2 Inhibitors, Muscle Loss, and Creatinine-Based Estimated GFR: An Integrative Conceptual Review of Renoprotection

SGLT2抑制剂、肌肉丢失和基于肌酐的估算肾小球滤过率:肾脏保护的综合概念综述

Groothof, Dion; Shehab, Naser B N; Post, Adrian; Erler, Nicole S; Gans, Reinold O B; Bakker, Stephan J L

Dynamics and lipid membrane coupling of the RAS-RAF complex revealed via multiscale simulations

通过多尺度模拟揭示RAS-RAF复合物的动力学和脂质膜耦合

Carpenter, Timothy S; Aydin, Fikret; Neale, Chris; Van, Que N; Zhang, Xiaohua; Bhatia, Harsh; Sidabras, Jason W; Frank, Peter H; Georgouli, Konstantia; Tempkin, Jeremy O B; Casamayor, Violeta Burns; Gulten, Gulcin; Shrestha, Rebika; Goswami, Debanjan; Di Natale, Francesco; Chavez, Joseph R; Moody, Adam; Moon, Joseph Y; Oppelstrup, Tomas; Glosli, James N; Dharuman, Gautham; Wong, Sergio; Liu, Shusen; Hengartner, Nicolas W; López, Cesar A; Nguyen, Kien; Stanley, Christopher B; Stanton, Liam G; Patel, Lara; Reddy, Tyler; Turbyville, Thomas J; Van Essen, Brian; Bremer, Peer-Timo; Lightstone, Felice C; Stephen, Andrew G; Gnanakaran, Sandrasegaram; McCormick, Frank; Nissley, Dwight V; Streitz, Frederick H; Ingólfsson, Helgi I

Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays

遗传性转甲状腺素蛋白淀粉样变性患者血清神经丝轻链的评估:三种免疫测定法的直接比较

Berends, Milou; Bijzet, Johan; Arends, Suzanne; Brouwer, Elisabeth; Teunissen, Charlotte E; In 't Veld, Sjors G J G; Gans, Reinold O B; Hazenberg, Bouke P C; van der Zwaag, Paul A; Nienhuis, Hans L A; Kroesen, Bart-Jan

Exploratory Evaluation of the Predictive Value of Serum Neurofilament Light Chain for Autonomic Neuropathy in Hereditary Transthyretin Amyloidosis

血清神经丝轻链对遗传性转甲状腺素蛋白淀粉样变性自主神经病变预测价值的探索性评估

Berends, Milou; Brunger, Anne Floor; Tingen, Hendrea S A; Bijzet, Johan; Teunissen, Charlotte E; Zwaag, Paul A van der; Gans, Reinold O B; Hazenberg, Bouke P C; Lange, Fiete; Drost, Gea; Noordzij, Walter; Nienhuis, Hans L A; Slart, Riemer H J A