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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Tumor cell villages define the co-dependency of tumor and microenvironment in liver cancer

肿瘤细胞群落定义了肝癌中肿瘤与微环境的相互依赖关系

Liu, Meng; Hernandez, Maria O; Castven, Darko; Lee, Hsin-Pei; Wu, Wenqi; Wang, Limin; Forgues, Marshonna; Hernandez, Jonathan M; Marquardt, Jens U; Ma, Lichun

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

Colonic spatial single-cell proteomics and murine models link mitochondrial dysfunction to dimeric IgA-secreting plasma cell deficiency in Crohn's disease.

结肠空间单细胞蛋白质组学和鼠模型将线粒体功能障碍与克罗恩病中分泌二聚体 IgA 的浆细胞缺乏联系起来。

Raschdorf Annika, de Almeida Larissa Nogueira, Solbach Philipp, Kirstein Martha M, Marquardt Jens U, Schmelter Franziska, Günther Ulrich L, Schlichting Heidi, Hicken Maren, Christiansen Lea, Wiestler Miriam, Tews Hauke C, Bettenworth Dominik, Peipp Matthias, Valerius Thomas, Ragab Mohab, Sauer Thorben, Gemoll Timo, Ehlers Marc, Rosenstiel Philip, Manz Rudolf A, Künstner Axel, Busch Hauke, Sina Christian, Derer Stefanie

Sita- and saxagliptin use and autoantibodies to autoimmune bullous diseases: A cross-sectional study

西他赛和沙格列汀的使用与自身免疫性大疱性疾病的自身抗体:一项横断面研究

Dräger, Sören; Kauderer, Claudia; Meyhöfer, Svenja; Dräger, Leonie; Marquardt, Jens U; Ludwig, Ralf J; Arndt, Stephan; Boch, Katharina; Bieber, Katja

Screening for Alzheimer's disease in the community using an AI-driven screening platform: design of the PREDICTOM study

利用人工智能驱动的筛查平台在社区开展阿尔茨海默病筛查:PREDICTOM 研究的设计

Brem, Anna-Katharine; Khan, Zunera; Radermacher, Jonas; Georgiadis, Kostas; Lazarou, Ioulietta; Grammatikopoulou, Margarita; Pickering, Ellie; Mitterreiter, Johanna; Aakre, Jon Arild; Ashton, Nicholas J; Baquero, Miguel; Beser-Robles, Maria; Braboszcz, Claire; Brandt, Sigurd; Brown, James; Cacciamani, Federica; Campill, Sarah; Collins, Christopher; Deshpande, Pushkar; Diaz, Ana; Durrleman, Stanley; Engelborghs, Sebastiaan; Ferré-González, Laura; Frisoni, Giovani B; Gjestsen, Martha Therese; Gove, Dianne; Honigberg, Lee; Huang, Bin; Hudak, Anett; Kaushik, Sandeep; Letoha, Tamas; Marquardt, Gaby; Mendes, Augusto J; Müllenborn, Matthias; Paletta, Lucas; de Barros, Nuno Pedrosa; Pszeida, Martin; Vik-Mo, Audun Osland; Rostamipour, Hossein; Perneczky, Robert; Rauchmann, Boris-Stephan; Russegger, Silvia; Schirmer, Timo; Shadmaan, Amied; Solana, Ana Beatriz; Soria-Frisch, Aureli; Tegethoff, Paulina; Ribbens, Annemie; De Witte, Sara; van der Giezen, Mark; Nikolopoulos, Spiros; Corbett, Anne; Fröhlich, Holger; Aarsland, Dag

Association of layer-specific knee cartilage T2-relaxation measurements with age, sex and cartilage morphology at 1.5-T MRI

1.5T磁共振成像下膝关节软骨层特异性T2弛豫测量值与年龄、性别和软骨形态的相关性

Aschauer, Katharina; Weber, Marc-André; Bülow, Robin; Hosten, Norbert; Seitel, Matthias; Schmidt, Carsten Oliver; Marquardt, Hanjo; Weber, Frank; Klaan, Bastian

Lack of GPNMB Is Associated With Altered Lipid and Glucose Metabolism and Disrupted Diurnal Hepatic Glycogen Regulation.

GPNMB 缺乏与脂质和葡萄糖代谢改变以及肝糖原昼夜调节紊乱有关。

de Oliveira Furtado Eliz Maria, Jegodzinski Lina, da Silva Juliano Jefferson, Tostes Ana Flávia, Dos Santos Lucas, Barsanele Pietra Souza, Santana-Lima Beatriz, Caperuto Luciana Chagas, Abreu Mery Natali Silva, Castven Darko, Schenk Andrea, Dias Danusa Soares, Marquardt Jens U, Poletini Maristela Oliveira, de Assis Leonardo Vinícius Monteiro, Moraes Maria Nathália

Direct Laser Interference Patterning for Wettability Modification and Bubble Nucleation on Conventional and Additively Manufactured Metals

直接激光干涉图案化技术用于传统金属和增材制造金属的润湿性改性和气泡成核

Heinrich, Julian; Ränke, Fabian; Schwarzenberger, Karin; Marquardt, Tine; Yang, Xuegeng; Marzec, Mateusz Marek; Sokołowski, Krystian; Lasagni, Andrés Fabián; Eckert, Kerstin

Effect of glucose on medium chain triglyceride induced ketosis in healthy adults in a randomized, double-blind, controlled study

一项随机、双盲、对照研究探讨了葡萄糖对健康成年人中链甘油三酯诱导酮症的影响

Frenser, Marius; Fobker, Manfred; Feuerborn, Renata Antonina; Marquardt, Thorsten; Fischer, Tobias