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

Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling

一项针对122341名欧洲血统患者的主要焦虑症的全基因组关联研究,发现了58个基因位点,并强调了GABA能信号传导的作用。

Strom, Nora I; Verhulst, Brad; Bacanu, Silviu-Alin; Cheesman, Rosa; Purves, Kirstin L; Gedik, Hüseyin; Mitchell, Brittany L; Kwong, Alex S; Faucon, Annika B; Singh, Kritika; Medland, Sarah; Colodro-Conde, Lucia; Krebs, Kristi; Hoffmann, Per; Herms, Stefan; Gehlen, Jan; Ripke, Stephan; Awasthi, Swapnil; Palviainen, Teemu; Tasanko, Elisa M; Peterson, Roseann E; Adkins, Daniel E; Shabalin, Andrey A; Adams, Mark J; Iveson, Matthew H; Campbell, Archie; Thomas, Laurent F; Winsvold, Bendik S; Drange, Ole Kristian; Børte, Sigrid; Ter Kuile, Abigail R; Naamanka, Joonas; Nguyen, Tan-Hoang; Meier, Sandra M; Corfield, Elizabeth C; Hannigan, Laurie; Levey, Daniel F; Czamara, Darina; Weber, Heike; Choi, Karmel W; Pistis, Giorgio; Couvy-Duchesne, Baptiste; Van der Auwera, Sandra; Teumer, Alexander; Karlsson, Robert; Garcia-Argibay, Miguel; Lee, Donghyung; Wang, Rujia; Bjerkeset, Ottar; Stordal, Eystein; Bäckman, Julia; Salum, Giovanni A; Zai, Clement C; Kennedy, James L; Zai, Gwyneth; Tiwari, Arun K; Heilmann-Heimbach, Stefanie; Schmidt, Börge; Kaprio, Jaakko; Kennedy, Martin M; Boden, Joseph; Havdahl, Alexandra; Middeldorp, Christel M; Lopes, Fabiana L; Akula, Nirmala; McMahon, Francis J; Binder, Elisabeth B; Fehm, Lydia; Ströhle, Andreas; Castelao, Enrique; Tiemeier, Henning; Stein, Dan J; Whiteman, David; Olsen, Catherine; Fuller, Zachary; Wang, Xin; Wray, Naomi R; Byrne, Enda M; Lewis, Glyn; Timpson, Nicholas J; Davis, Lea K; Hickie, Ian B; Gillespie, Nathan A; Milani, Lili; Schumacher, Johannes; Woldbye, David P; Forstner, Andreas J; Nöthen, Markus M; Hovatta, Iiris; Horwood, John; Copeland, William E; Maes, Hermine H; McIntosh, Andrew M; Andreassen, Ole A; Zwart, John-Anker; Mors, Ole; Børglum, Anders D; Mortensen, Preben B; Ask, Helga; Reichborn-Kjennerud, Ted; Najman, Jackob M; Stein, Murray B; Gelernter, Joel; Milaneschi, Yuri; Penninx, Brenda W; Boomsma, Dorret I; Maron, Eduard; Erhardt-Lehmann, Angelika; Rück, Christian; Kircher, Tilo T; Melzig, Christiane A; Alpers, Georg W; Arolt, Volker; Domschke, Katharina; Smoller, Jordan W; Preisig, Martin; Martin, Nicholas G; Lupton, Michelle K; Luik, Annemarie I; Reif, Andreas; Grabe, Hans J; Larsson, Henrik; Magnusson, Patrik K; Oldehinkel, Albertine J; Hartman, Catharina A; Breen, Gerome; Docherty, Anna R; Coon, Hilary; Conrad, Rupert; Lehto, Kelli; Deckert, Jürgen; Eley, Thalia C; Mattheisen, Manuel; Hettema, John M

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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

A microenvironment-determined risk continuum refines subtyping in meningioma and reveals determinants of machine learning-based tumor classification.

微环境决定的风险连续体细化了脑膜瘤的亚型,并揭示了基于机器学习的肿瘤分类的决定因素。

Maas Sybren L N, Tang Yiheng, Stutheit-Zhao Eric, Rahmanzade Ramin, Blume Christina, Hielscher Thomas, Zettl Ferdinand, Benfatto Salvatore, Calafato Domenico, Sill Martin, Benotmane Jasim Kada, Yabo Yahaya A, Behling Felix, Suwala Abigail, Kardo Helin, Ritter Michael, Peyre Matthieu, Sankowski Roman, Okonechnikov Konstantin, Sievers Philipp, Patel Areeba, Reuss David, Friedrich Mirco J, Stichel Damian, Schrimpf Daniel, Van den Bosch Thierry P P, Beck Katja, Wirsching Hans-Georg, Jungwirth Gerhard, Hanemann C Oliver, Lamszus Katrin, Etminan Nima, Unterberg Andreas, Mawrin Christian, Remke Marc, Ayrault Olivier, Lichter Peter, Reifenberger Guido, Platten Michael, Kacprowski Tim, List Markus, Pauling Josch K, Baumbach Jan, Milde Till, Grossmann Rachel, Ram Zvi, Ratliff Miriam, Mallm Jan-Philipp, Neidert Marian C, Bos Eelke M, Prinz Marco, Weller Michael, Acker Till, Hartmann Felix J, Preusser Matthias, Tabatabai Ghazaleh, Herold-Mende Christel, Krieg Sandro M, Jones David T W, Pfister Stefan M, Wick Wolfgang, Kalamarides Michel, von Deimling Andreas, Heiland Dieter Henrik, Hovestadt Volker, Gerstung Moritz, Schlesner Matthias, Sahm Felix

Escape from X inactivation is directly modulated by Xist noncoding RNA

Xist非编码RNA直接调控X染色体失活的逃逸。

Hauth, Antonia; Panten, Jasper; Kneuss, Emma; Picard, Christel; Servant, Nicolas; Rall, Isabell; Pérez-Rico, Yuvia A; Clerquin, Lena; Servaas, Nila; Villacorta, Laura; Jung, Ferris; Luong, Christy; Chang, Howard Y; Zaugg, Judith B; Stegle, Oliver; Odom, Duncan T; Heard, Edith; Loda, Agnese

Water mass specific genes dominate the Southern Ocean microbiome

南大洋微生物组以水团特异性基因为主。

Faure, Emile; Pommellec, Jolann; Noel, Cyril; Cormier, Alexandre; Delpech, Lisa-Marie; Eren, A Murat; Fernandez-Guerra, Antonio; Vanni, Chiara; Fourquez, Marion; Houssais, Marie-Noëlle; Guyet, Ulysse; Da Silva, Corinne; Gavory, Frederick; Perdereau, Aude; Labadie, Karine; Wincker, Patrick; Poulain, Julie; Hassler, Christel; Lin, Yajuan; Cassar, Nicolas; Maignien, Loïs

DNA methylation and lncRNA control asynchronous DNA replication at specific imprinted gene domains.

DNA甲基化和lncRNA控制特定印记基因区域的异步DNA复制。

Imaizumi Yui, Charon François, Surcis Caroline, Picard Christel, Arnau-Romero Pol, Andrau Jean-Christophe, Noordermeer Daan, Moindrot Benoit, Cadoret Jean-Charles, Feil Robert

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing

利用靶向平行长读长测序技术分析德国患者队列中的重复序列相关性共济失调

Erdmann, Hannes; Schaub, Annalisa; Lucas, Morghan C; Scholz, Veronika; Benet-Pagès, Anna; Becker, Kerstin; Dineiger, Christine; Mayer, Veronika; van Buren, Inga; Breithausen, Eva; Akbari, Karl; Cordts, Isabell; Sauer, Mayra; Schneider, Christine; Krakowsky, Rosanna; Schnabel, Franziska; Dunker, Konstanze; Fabritius, Lena; Gerb, Johannes; Grabova, Denis; Möhwald, Ken; Näher, Marius; Steinmetz, Karoline; Thiessen, Franziska; Jäck, Alexander; Schneider-Gold, Christiane; Zittel, Simone; Petersen, Christina; Schreyer, Isolde; Mämecke, Larissa; Wilfling, Sibylle; Wunderlich, Gilbert; Brenner, David; Hellenbroich, Yorck; Muhle, Kirsten; Huchtemann, Tessa; Claus, Inga; Klopstock, Thomas; Strupp, Michael; Levin, Johannes; Höglinger, Günter U; Huppert, Doreen; Becker-Bense, Sandra; Filippopulos, Filipp; Kilpert, Fabian; Leitão, Elsa; Kaya, Sabine; Depienne, Christel; Schöberl, Florian; Neuhann, Teresa; Holinski-Feder, Elke; Zwergal, Andreas; Abicht, Angela

Targeting PAR-2 with a negative allosteric modulator increases tumor antigen presentation and potentiates anti-PD-1 immunotherapy

使用负变构调节剂靶向PAR-2可增加肿瘤抗原呈递并增强抗PD-1免疫疗法的效果。

Aouad, Samya; Kadiri, Maleck; Allard, David; Skora, Emma; Giraud, Lucie; Fuselier, Camille; Desroys du Roure, Penelope; Mousson, Antoine; Janvier, Aurelie; Baron, Luc; Franchet, Christel; Lecru, Lola; Routy, Bertrand; Malo, Julie; Brugat, Thibaut; Blayo, Anne-Laure; Schann, Stephan; Stagg, John

Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) and incidence of asthma and wheeze in childhood: A register-based cohort study in Ronneby, Sweden

瑞典龙讷比市一项基于登记数据的队列研究:产前暴露于全氟和多氟烷基物质(PFAS)与儿童期哮喘和喘息发病率的关系

Blomberg, Annelise J; Nielsen, Christel; Borgström Bolmsjö, Beata; Bind, Marie-Abèle; Hartman, Linda; Saxne Jöud, Anna