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

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

Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model.

Th17 细胞需要 DNA 修复传感器着色性干皮病互补组 C 来控制小鼠模型中的氧化性 DNA 损伤。

Leite Jefferson Antônio, Bos Natalia Notarberardino, Menezes-Silva Luísa, Martins da Silva Eloísa, Silva Leandro Giovana da, Moreira de Goes Guilherme Comparotto, da Silva Patrick, Oliveira Samuel, de Almeida Santos Eder Soares, Ranfley Hedden, Palagi Ilaria, Andrade-Silva Magaiver, Ferreira Camila Pontes, Nery Neto José Arimatéa de Oliveira, Yuji Yariwake Victor, Cipelli Marcella, Leocata Beatriz, Gonçalves Talita, Gabry da Silveira Anthony, Baroni Sabrina, Weiner Howard L, Hofmann Thomas G, Scheu Stefanie, Neves Bruno Junior, de Souza-Pinto Nadja Cristhina, Colli Leandro Machado, Waisman Ari, Marcia Muxel Sandra, Menck Carlos Frederico Martins, Câmara Niels Olsen Saraiva

Tumour specific HORMAD1 expression perturbs mitotic arrest and drives sensitivity to mitotic kinase inhibitors.

肿瘤特异性 HORMAD1 表达扰乱有丝分裂停滞,并导致对有丝分裂激酶抑制剂的敏感性。

Walker Callum, Kollarovic Gabriel, Weekes Daniel, Trendell Jennifer, Hoffmann Ricarda M, Martin Alexia, Ferro Riccardo, Navarro-Llinas Blanca, Hitchen Luke, Pardo Calvo Mercedes, Balan Nicolae, Kemp Harriet, Carroll Alexandra, Davidson Kathryn, Nath Sarmi, D'Uonno Nadja, Lu Ruifang, Starling Chris, Otten Marieke, Iakobachvili Nino, Marcozzi Chiara, Rahman Ilhan, Quist Jelmar, Yu Lu, Krastev Dragomir B, Amodeo Valeria, Roxanis Ioannis, Grigoriadis Anita, Bayliss Richard, Choudhary Jyoti, Haider Syed, Pines Jonathon, Pettitt Stephen J, Lord Christopher J, Tutt Andrew N J

Does stringent cytoreduction improve survival in advanced proliferative chronic myelomonocytic leukemia?

严格的细胞减灭术能否提高晚期增殖性慢性粒单核细胞白血病患者的生存率?

Selimoglu-Buet, Dorothée; Chevret, Sylvie; Santini, Valeria; Thépot, Sylvain; Morabito, Margot; Adès, Lionel; Laplane, Lucie; Giagounidis, Aristoteles; Droin, Nathalie; Lübbert, Michael; Sapena, Rosa; Nimubona, Stanislas; Torregrosa-Diaz, Jose Miguel; Germing, Ulrich; Pelizzari, Anna Maria; Park, Sophie; Jaekel, Nadja; Metzgeroth, Georgia; Onida, Francesco; Paul, Franciane; Patriarca, Andrea; Stamatoullas, Aspasia; Götze, Katharina; Chermat, Fatiha; Platzbecker, Uwe; Fenaux, Pierre; Solary, Eric; Itzykson, Raphael

Modeling Ringed and Bearded Seal Future Habitats Indicates Stability, Shifts, and Refugia

环斑海豹和髯海豹未来栖息地建模显示其稳定性、变化和避难所

Farnole, Patrick; Ferguson, Steven H; Haddon, Antoine; Lea, Ellen V; Monahan, Adam H; Steiner, Nadja

Complementary Predictors for Asthma Attack Prediction in Children: Salivary Microbiome, Serum Inflammatory Mediators, and Past Attack History

儿童哮喘发作预测的补充预测因子:唾液微生物群、血清炎症介质和既往发作史

Shahbazi Khamas, Shahriyar; Brinkman, Paul; Neerincx, Anne H; Vijverberg, Susanne J H; Hashimoto, Simone; Blankestijn, Jelle M; Duitman, Jan Willem; Dekker, Tamara; Smids, Barbara S; Terheggen-Lagro, Suzanne W J; Lutter, René; Metwally, Nariman K A; Sondaal, Fleur; Haarman, Eric G; Sterk, Peter J; Adcock, Ian M; Auffray, Charles; Bang, Corinna; Bansal, Aruna T; Buntrock-Döpke, Heike; Bønnelykke, Klaus; Bush, Andrew; Chawes, Bo Lund; Chung, Kian Fan; Corcuera-Elosegui, Paula; Dahlén, Sven-Erik; Djukanovic, Ratko; Fleming, Louise J; Fowler, Stephen J; Franke, Andre; Frey, Urs; Gorenjak, Mario; Brandstetter, Susanne; Harner, Susanne; Hedlin, Gunilla; Kabesch, Michael; Zounemat-Kermani, Nazanin; Kheirolldein, Parastoo; Kiefer, Alexander; Konradsen, Jon R; Kraneveld, Aletta D; López-Fernández, Leyre; Murray, Clare S; Nordlund, Björn; Pino-Yanes, Maria; Potočnik, Uroš; Roberts, Graham; Stokholm, Jakob; Sørensen, Søren Johannes; Sardón-Prado, Olaia; Shaw, Dominick E; Singer, Florian; Sousa, Ana R; Thorsen, Jonathan; Toncheva, Antoaneta A; Vissing, Nadja H; Wolff, Christine; Abdel-Aziz, Mahmoud I; Maitland-van der Zee, Anke H

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

A Self-Reinforcing Pathway Linking PIEZO1 and 3-Carboxy-4-Methyl-5-Propyl-2-Furanpropionate, a Renal Retention Solute, with CKD Progression

PIEZO1 与 3-羧基-4-甲基-5-丙基-2-呋喃丙酸酯(一种肾脏潴留溶质)和 CKD 进展之间的自我增强通路

Kotanko, Peter; Poole, David Alonzo; Van Spitzenbergen, Beatriz Akemi Kondo; Grobe, Nadja; Jennings, Paul; Moreno-Amaral, Andrea Novais

Photoreceptor control of Platynereis growth and lifespan via evolutionarily conserved molecular pathways

光感受器通过进化保守的分子通路控制扁形动物的生长和寿命

Andreatta, Gabriele; Scaramuzza, Federico; Ćorić, Aida; Orel, Lukas; Mat, Audrey M; Takekata, Hiroki; Poehn, Birgit; Milivojev, Nadja; Tessmar-Raible, Kristin