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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

Surface expression of antitoxin on engineered bacteria neutralizes genotoxic colibactin in the gut

基因工程细菌表面表达的抗毒素可中和肠道中的基因毒性大肠杆菌素

Yang, Shaobo; Wang, Zongqi; Fang, Chengyuan; Yang, Mengdi; Khawaled, Saleh; Bonanno, Shanna; Joshi, Neel S; Wei, Yun; Zhang, Ke; Márquez-Pellegrin, Valeria; Guan, Ming; Zhang, Songqi; Bader, Anna Clara; Ye, Ningyuan; Haley, Amber E; Dame, Michael K; Spence, Jason R; He, Xuesong; Fox, James G; Yilmaz, Ömer H; Shah, Yatrik M; Romee, Rizwan; Li, Jiahe

An adaptive, continuous-learning framework for clinical decision-making from proteome-wide biofluid data

基于蛋白质组生物体液数据的自适应、持续学习临床决策框架

Müller-Reif, Johannes B; Albrecht, Vincent; Brennsteiner, Vincenth; Bader, Jakob M; Treit, Peter V; Wewer Albrechtsen, Nicolai J; Pangratz-Führer, Susanne; Mann, Matthias

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome

药物稳定缺氧诱导因子 1-α 可抑制干扰素反应并促进艾卡迪-古蒂埃综合征中的糖酵解。

Batignes, Maxime; Luka, Marine; Jagtap, Surabhi; de Cevins, Camille; Nemazanyy, Ivan; Leib, Jacqueline; Fali, Tinhinane; Pierga, Alexandre; Zarhrate, Mohammed; García-Paredes, Víctor; Carbone, Francesco; Pérot, Brieuc P; Neven, Bénédicte; Bader-Meunier, Brigitte; Quartier, Pierre; Hully, Marie; Belot, Alexandre; Lepelley, Alice; Frémond, Marie-Louise; Fischer, Alain; Ménager, Mickaël M

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

ERCC6L2 ensures repair fidelity for staggered-end DNA double-strand breaks.

ERCC6L2 确保交错末端 DNA 双链断裂的修复保真度。

Aird Eric J, Serrano-Benitez Almudena, Siegner Sebastian M, Cannavo Elda, Belotserkovskaya Rimma, Gueorguieva Nadia, Fielden John, Cullot Grégoire, Ammann Sandra, Bader Aldo S, Gupta Vipul, Andrieux Geoffroy, Raab Rebecca, Del Rey González Mónica, Cathomen Toni, Cejka Petr, Corn Jacob E, Jackson Stephen P

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

TBK1诱导Optineurin丝状体的形成,该丝状体与多聚泛素和LC3凝聚,从而隔离货物。

Herrera, Maria G; Kühn, Lena; Jungbluth, Lisa; Bader, Verian; Krause, Laura J; Kartte, David; Adriaenssens, Elias; Martens, Sascha; Tatzelt, Jörg; Sachse, Carsten; Winklhofer, Konstanze F

Oxidized MIF is an Alzheimer's disease drug target relaying external risk factors to tau pathology

氧化型MIF是阿尔茨海默病药物靶点,它将外部风险因素传递给tau蛋白病理。

Andreas Müller-Schiffmann,Felix Torres,Anatoliy Kitaygorodskyy,Anand Ramani,Argyro Alatza,Sarah K Tschirner,Julien Orts,Arthur Haltrich,Ingrid Prikulis,Shaofeng Yu,Debendranath Dey,Suguna Mallesh,Dharma Prasad,Dennis Solas,Verian Bader,Annemieke Rozemuller,Selina Wray,Jay Gopalakrishnan,Roland Riek,Vishwanath R Lingappa,Carsten Korth

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

外显子组测序可对 10% 的早发性或家族性系统性红斑狼疮病例进行分子诊断。

Tusseau, Maud; Khaldi-Plassart, Samira; Labalme, Audrey; Mathieu, Anne-Laure; Riller, Quentin; Molitor, Corentin; Simonet, Thomas; Viel, Sebastien; Gaboriaud, Christine; Thielens, Nicole; Heiser, Lionel; Chopin, Emilie; Rouvet, Isabelle; Fabien, Nicole; Goncalves, David; Fremeaux-Bacchi, Véronique; El-Sissy, Carine; Pottier, Nicolas; Larrue, Romain; Ranchin, Bruno; Laurent, Audrey; Fouillet-Desjonqueres, Marine; Jouret, Maurine; Mekinian, Arsène; Yamashita, Motoi; Morio, Tomohiro; Hachulla, Eric; Melki, Isabelle; Kone-Paut, Isabelle; Ballot, Claire; Reumaux, Heloise; Pillet, Pascal; Harambat, Jerome; Richez, Christophe; Richer, Olivier; Hatchuel, Yves; Louillet, Ferielle; Lega, Jean-Christophe; Durieu, Isabelle; Welfringer-Morin, Anne; Picard, Capucine; Messadi, Wassila; Sarrot-Reynauld, Françoise; Sanlaville, Damien; Bader-Meunier, Brigitte; Walzer, Thierry; Lesca, Gaëtan; Rieux-Laucat, Frédéric; Belot, Alexandre