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

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

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

Cirrhosis and age are key determinants of HCC risk in individuals with primary sclerosing cholangitis: A multicenter longitudinal cohort study

肝硬化和年龄是原发性硬化性胆管炎患者发生肝细胞癌风险的关键决定因素:一项多中心纵向队列研究

Holmer, Magnus; Ingre, Michael; Färkkilä, Martti; Ponsioen, Cyriel; Mol, Bregje; Schramm, Christoph; Folseraas, Trine; Wiencke, Kristine; Cazzagon, Nora; Catanzaro, Elisa; Molinaro, Antonio; Nilsson, Emma; Vessby, Johan; Kechagias, Stergios; Nyhlin, Nils; Werner, Mårten; Bergquist, Annika

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

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

Role for NF-κB in herpes encephalitis pathology in mice genocopying an inborn error of IRF3-IFN immunity

NF-κB在模拟IRF3-IFN免疫先天缺陷的小鼠疱疹性脑炎病理中的作用

Manja Idorn,Xiangning Ding,Stefanie Fruhwürth,Søren Holste,Line S Reinert,Christian S Skoven,Katarina Türner-Stenström,Alexander Schmitz,Mikkel H Vendelbo,Benedicte P Ulhøi,Dzeneta Vizlin-Hodzic,Mona Wefelmeyer,Ryo Narita,Lona J Kroese,Ivo J Huijbers,Michelle Møhlenberg,Anne Kruse Hollensen,Xin Lai,Marie B Iversen,Brian Hansen,Trine H Mogensen,Søren R Paludan

NRF2 controls a diverse network of antiviral effectors with p62 acting as a central restriction factor effective across virus families

NRF2 控制着一个多样化的抗病毒效应因子网络,其中 p62 作为一种核心限制因子,对多种病毒家族均有效。

Pedersen, Alice; Blay-Cadanet, Julia; Storgaard, Jacob; Hernaez, Bruno; Thyrsted, Jacob; Bach-Nielsen, Cecilie S; Twayana, Krishna; Jørgensen, Sofie E; Rio-Bergé, Clàudia; Poulsen, Cecilie; Thielke, Anne L; Thomsen, Emil A; Kalucka, Joanna; Olagnier, David; Luo, Yonglun; Reggiori, Fulvio; Mogensen, Trine H; Alcamí, Antonio; Hansen, Anne Louise; Holm, Christian K

Drug Survival of Biologics in Bionaive and Bioexperienced Patients With Psoriasis

生物制剂在初治和经治银屑病患者中的药物生存率

Schwarz, Christopher Willy; Loft, Nikolai; Bryld, Lars Erik; Nissen, Christoffer Valdemar; Ajgeiy, Kawa Khaled; Bertelsen, Trine; Hjuler, Kasper Fjellhaugen; Dam, Tomas Norman; Iversen, Lars; Rasmussen, Mads Kirchheiner; Skov, Lone

Generation and characterisation of a humanised GLP-1 receptor mouse model for translational drug development.

构建和表征用于转化药物开发的人源化 GLP-1 受体小鼠模型。

Sonne Nina, Roque Micaela, Zachariassen Line Fisker, Porsgaard Trine, Pors Susanne E, Cavalera Michele, Jones Christopher, Osborn Olivia, Thorbek Ditte Dencker, Riis Malene Lundgaard, Feigh Michael, Quinn Kevin, Gaidarov Ibragim, Anthony Todd, Hansen Henrik H, Tozzi Marco

Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis

暴发性单纯疱疹病毒性肝炎患者体内中和 I 型干扰素的自身抗体

Gervais, Adrian; Marchal, Astrid; Boucherit, Soraya; Abi Haidar, Anthony; Bizien, Lucy; Yalcinkaya, Ahmet; Sandström, Ella; Kong, Xiao-Fei; Jacquemin, Emmanuel; Bernard, Olivier; Debray, Dominique; Lacaille, Florence; Ichai, Philippe; Arikan, Cigdem; Javouhey, Etienne; Roquelaure, Bertrand; Gottrand, Frédéric; Trespidi, Francesca; Codullo, Veronica; Cavagna, Lorenzo; Schleinitz, Nicolas; Bousfiha, Mohamed; Amenzoui, Naima; Bousfiha, Ahmed Aziz; Jørgensen, Sofie E; Mørk, Nanna; Mogensen, Trine H; Bastard, Paul; Puel, Anne; Borghesi, Alessandro; Rule, Jody A; Lee, William M; Landegren, Nils; Cobat, Aurélie; Casanova, Jean-Laurent; Jouanguy, Emmanuelle