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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Stearoyl-CoA desaturase-1 controls the differentiation and antitumoral function of Th9 lymphocytes

硬脂酰辅酶A去饱和酶-1控制Th9淋巴细胞的分化和抗肿瘤功能

Groetz, Emma; Perrey, Sabrina; Baeza Garcia, Alvaro; Dumont, Adélie; Pichon, Laurent; Kieu, Celine Trinh Le Vi; Pierre, Léa; Thomas, Charles; Flavell, Richard; Limagne, Emeric; Vegran, Frederique; Apetoh, Lionel; Ghiringhelli, Francois; Rialland, Mickael

Use of a cytochrome P450 humanized mouse model to refine schistosomiasis drug discovery

利用细胞色素P450人源化小鼠模型改进血吸虫病药物研发

Davey, Sarah D; Forde-Thomas, Josephine E; Hulme, Benjamin J; Lees, Kristin; Costain, Alice H; Evans, Mary; Rinaldi, Gabriel; Frame, Laura; Stojanovski, Laste; Simeons, Frederick R C; Tavendale, Amy; MacLeod, A Kenneth; Pichon, Remi; Lee, Yi-Hsuan; Polak, Oktawia; Chalmers, Iain W; Dankwa, Bismark; Odhiambo, Brenda Kisia; Guimaraes, Victor Hugo; Hegarty, Matthew; Swain, Martin T; Aubrey, Wayne; Caldwell, Nicola; MacDonald, Andrew S; Gilbert, Ian H; Baragaña, Beatriz; Read, Kevin D; Hoffmann, Karl F

Self-supervised learning to predict intrahepatic cholangiocarcinoma transcriptomic classes on routine histology

利用自监督学习预测常规组织学中的肝内胆管癌转录组类型

Beaufrère, Aurélie; Lazard, Tristan; Nicolle, Rémy; Lubuela, Gwladys; Augustin, Jérémy; Albuquerque, Miguel; Pichon, Baptiste; Pignolet, Camille; Priori, Victoria; Théou-Anton, Nathalie; Lesurtel, Mickael; Bouattour, Mohamed; Mondet, Kévin; Cros, Jérôme; Calderaro, Julien; Walter, Thomas; Paradis, Valérie

Plasmablast, memory B cell and T follicular helper cell responses after human papillomavirus vaccination: effect of dose number and age

人乳头瘤病毒疫苗接种后浆细胞、记忆B细胞和滤泡辅助性T细胞的反应:剂量和年龄的影响

Kiamba, Eunice W; Ajiboye, Dolapo O; Bashorun, Adedapo Olufemi; Jallow, Mamie Ndeban; Drammeh, Lamin; Bah, Samba; Jobarteh, Tijan; Kanu, Francis; Jawla, Ousubie; Lamin, Jobarteh; Segonds-Pichon, Anne; Holland, Martin J; Goodier, Martin R; Roetynck, Sophie; Clarke, Ed

mRNA-based CAR T cell engineering: Unmodified mRNA enables high CAR expression without innate immune activation in T cells

基于mRNA的CAR-T细胞工程:未经修饰的mRNA可在不激活T细胞固有免疫的情况下实现高水平的CAR表达

Kahwaji, Nourhan; Kotzian, Niklas; Prinz, Jasmin Melissa; Pu, Yaolin; Kath, Jonas; Picht, Samira; Hiller, Anna Luisa; Klaas, Antonia; Dunne, Charlotte Maeve; Launspach, Michael; Palmowski, Andriko; Kleyer, Arnd; Simon, David Nils; Wagner, Dimitrios Laurin; Pichon, Chantal; Krönke, Gerhard; Schmueck-Henneresse, Michael; Volk, Hans-Dieter; Gossen, Manfred; Drzeniek, Norman Michael

Contextualizing key principles to promote a justice-oriented informatics research agenda: proceedings and reflections from an American Medical Informatics Association workshop

将关键原则置于特定语境中,以促进以公正为导向的信息学研究议程:美国医学信息学协会研讨会的会议记录和反思

Kashyap, Aparajita; Allsman, Christopher J; Campbell, Elizabeth A; Desai, Pooja M; Volpe, Salvatore G; Massey, Bria P; Bright, Tiffani J; Bakken, Suzanne; Bear Don't Walk Iv, Oliver J; Pichon, Adrienne

Application of machine learning to nanomaterial design with silver nanoprisms

将机器学习应用于银纳米棱镜纳米材料设计

Richard, Constantin; Pichon, Paul-Adrien; Nováková, Jaroslava; Najafabadi, Neda Irannejad; Sá, Jacinto

Characterization using ultra-deep sequencing of the intra-host distribution of the mutations associated with H. pylori antibiotic resistance

利用超深度测序技术对幽门螺杆菌抗生素耐药相关突变在宿主体内的分布进行表征

Chaufour, Laura; Herve, Alexandra; Ndiaye, Birama; Karayan-Tapon, Lucie; Briand, Médéric; Lartigue, Frédérique; Burucoa, Christophe; Pichon, Maxime