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

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

Molecular mechanism of exchange coupling in CLC chloride/proton antiporters

CLC氯/质子反向转运体中交换偶联的分子机制

Aydin, Deniz; Chien, Chih-Ta; Kreiter, Jürgen; Nava, Amy R; Portasikova, Jasmina M; Fojtik, Lukas; Sobecks, Briana L; Mosquera, Catalina; Man, Petr; Dror, Ron O; Chiu, Wah; Maduke, Merritt

A ketogenic diet enhances aerobic exercise adaptation and promotes muscle mitochondrial remodeling in hyperglycemic male mice

生酮饮食可增强高血糖雄性小鼠的有氧运动适应能力并促进其肌肉线粒体重塑。

Pattamaprapanont, Pattarawan; Nava, Roberto C; Grover, Rea; Formato, Mia; Cooney, Eileen M; Pinto, Ana Paula; Alves-Wagner, Ana B; Das, Anamica; Guan, Yuntian; Annambhotla, Meghana; Acharya, Saanvi; Rivas, Donato A; Lessard, Sarah J

Lymphatic disruption drives lung transplant fibrosis through interleukin-1-mediated hyaluronan accumulation

淋巴系统紊乱通过白细胞介素-1介导的透明质酸积累驱动肺移植纤维化。

Shepherd, Hailey M; Li, Wenjun; Kopecky, Benjamin J; Terada, Yuriko; Liu, Charles R; Liu, Zhiyi; Lee, Daniel D; Mineura, Katsutaka; Dun, Hao; Yokoyama, Yuhei; Wong, Brian W; Kurtoglu, Gokalp K; Amrute, Junedh M; Scozzi, Davide; Bai, Yun Zhu; Bery, Amit I; Bernadt, Cory T; Ritter, Jon H; Brody, Steven L; Byers, Derek E; Krupnick, Alexander S; Nava, Ruben G; Patterson, G Alexander; Puri, Varun; Gelman, Andrew E; Lavine, Kory J; Randolph, Gwendalyn J; Kreisel, Daniel

A transposase-derived gene required for human brain development

一种转座酶衍生的基因,是人类大脑发育所必需的

Zapater, Luz Jubierre; Lewis, Sara A; Gutierrez, Rodrigo Lopez; Yamada, Makiko; Rodriguez-Fos, Elias; Planas-Felix, Merce; Cameron, Daniel; Demarest, Phillip; Nabila, Anika; Mueller, Helen S; Zhao, Junfei; Bergin, Paul; Reed, Casie; Chwat-Edelstein, Tzippora; Pagnozzi, Alex; Nava, Caroline; Bourel-Ponchel, Emilie; Cornejo, Patricia; Dursun, Ali; Özgül, R Köksal; Akar, Halil Tuna; Houlden, Henry; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Zifarelli, Giovanni; Bauer, Peter; Essid, Miriam; Benrhouma, Hanene; Hafsa, Meriem Ben; Kraoua, Ichraf; Galaz-Montoya, Carolina I; Proekt, Alex; Zhao, Xiaolan; Socci, Nicholas D; Hayes, Matthew; Bigot, Yves; Rabadan, Raul; Maroofian, Reza; Torrents, David; Kleinman, Claudia L; Kruer, Michael C; Toth, Miklos; Kentsis, Alex

Synergistic aligned neuronal and vascular growth inside 3D-PEG-Anisogels utilizing a triple-co-culture

利用三重共培养技术,在3D-PEG-Anisogels内部实现神经元和血管的协同定向生长

Bastard, Céline; Pietryszek, Philip; Uplegger, Hela; Mork, Matthias; Gerardo Nava, Jose Luis; Haraszti, Tamás; De Laporte, Laura

Glycaemic, appetite and circadian benefits of a dairy-enriched diet with high-protein breakfast and early daytime-restricted carbohydrate intake in type 2 diabetes: a randomised crossover trial

一项随机交叉试验研究了富含乳制品、高蛋白早餐和限制白天早期碳水化合物摄入的饮食对2型糖尿病患者血糖、食欲和昼夜节律的益处。

Tsameret, Shani; Froy, Oren; Matz, Yael; Landau, Zohar; Twito, Orit; Wainstein, Julio; Avital-Cohen, Natalie; Chapnik, Nava; Jakubowicz, Daniela

Polymer conformational entropy as the driver of complex coacervation

聚合物构象熵作为复杂凝聚的驱动力

Inzani, Tommaso; Nava, Giovanni; Buscaglia, Marco; Soranno, Andrea; Gori, Alessandro; Bergamaschi, Greta; Suweis, Samir; Maritan, Amos; Bellini, Tommaso

Ethical dilemmas in climate change and healthcare delivery: a cross-sectional survey of US patient perspectives

气候变化与医疗保健服务中的伦理困境:一项关于美国患者观点的横断面调查

Hantel, Andrew; Senay, Emily; Hlubocky, Fay J; Walsh, Thomas P; Gallagher, Erin; Johnston, Hannah; Cronin, Angel; DuVall, Adam S; Revette, Anna C; Nava-Coulter, Brett; Siegler, Mark; Richie, Cristina; Abel, Gregory A