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

Sex Differences in P-Tau217, Tau Aggregation, and Cognitive Decline

P-Tau217、Tau蛋白聚集和认知衰退中的性别差异

Coughlan, Gillian T; Ourry, Valentin; Townsend, Diana; Klinger, Hannah; Brown, Jane A; Cuppels, Madison; Betthauser, Tobey; Langhough, Rebecca; Cody, Karly; Seto, Mabel; Birkenbihl, Colin; Li, Annie; Farrell, Michelle; Thibault, Emma; Kivisäkk Webb, Pia; Arnold, Steven; Rissman, Robert A; Properzi, Michael; Schultz, Aaron; Johnson, Keith; Langford, Oliver; Donohue, Michael C; Villeneuve, Sylvia; Johnson, Sterling C; Yang, Hyun-Sik; Manson, JoAnn E; Sperling, Reisa; Buckley, Rachel F

Transmission of extended spectrum β-lactamase-producing Escherichia coli and antimicrobial resistance gene flow across One Health compartments in eastern Africa: a whole-genome sequence analysis from a prospective cohort study

东非“同一健康”区域内产超广谱β-内酰胺酶大肠杆菌的传播及抗菌素耐药基因流动:一项前瞻性队列研究的全基因组序列分析

Musicha, Patrick; Beale, Mathew A; Cocker, Derek; Oruru, Fiona A; Zuza, Allan; Salifu, Chifundo; Katende, George; Nanono, Sylvia; Isaasi, Fred; Chidziwisano, Kondwani; Mugisha, Lawrence; Kajumbula, Henry; Musoke, David; Morse, Tracy; Jacob, Shevin T; Feasey, Nicholas A; Thomson, Nicholas R

Overall Survival With First-Line vs Second-Line CDK4/6 Inhibitor Use in Advanced Breast Cancer: A Randomized Clinical Trial

晚期乳腺癌一线与二线 CDK4/6 抑制剂治疗的总生存期:一项随机临床试验

Wortelboer, Noor; van Ommen-Nijhof, Annemiek; Konings, Inge R; van der Noort, Vincent; van den Pol, Esther; Guerrero Páez, Cristina; Bakker, Sandra D; Hovenga, Sjoerd; Imholz, Alex L T; Kamm, Yvonne J L; van Leeuwen, Lobke; Luykx-de Bakker, Sylvia A; Mandigers, Caroline M P W; van Riel, Johanna M G H; Tol, Jolien; van de Wouw, Agnes J; Wilting, Saskia M; van Leeuwen-Stok, A Elise; Jager, Agnes; Sonke, Gabe S

Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain

21三体综合征导致发育中胎儿大脑中ADARB1过度表达和过早RNA重编码

Breen, Michael S; Yang, Andy; Wang, Xuran; Rodriguez de Los Santos, Miguel; Tao, Ran; Weinberger, Daniel R; Kleinman, Joel E; Mihova, Kalina; Stancheva, Gergana; Savova, Sylvia; Kaneva, Radka; Dimitrova, Violeta; Vladimirov, Vladimir; Hyde, Thomas M; Buxbaum, Joseph D

Intradermal delivery of lipophilic siRNAs enables prolonged skin retention and sustained gene silencing in a porcine model.

在猪模型中,皮内注射亲脂性siRNA可实现皮肤长期滞留和持续基因沉默。

Fakih Hassan H, Zain Ui Abideen Mohammad, Rachid Mohamad Omar, Gross Katherine Y, Ormsby Thomas J R, Ross Vella M, Gagnon Rosemary, Dahlke Christopher, Furgal Raymond C, Lochmann Clemens, Summers Ashley, Sleiman Hanadi F, Fürst Sylvia M, Jackson Shanté N, Gordilho Juliana O, Bouix-Peter Claire, Portal Thibaud, Tang Qi, Harris John E, Khvorova Anastasia, Blanchard Carine, Alterman Julia F

Well-Differentiated Neuroendocrine Tumors of Lung: A Case Series Supporting the IARC/WHO Common Classification of Neuroendocrine Tumor Nomenclature and Grading

肺分化良好的神经内分泌肿瘤:支持国际癌症研究机构/世界卫生组织神经内分泌肿瘤命名和分级通用分类的病例系列

Altun, Eren; Savari, Omid; Maravillas, Mart Andrew; Asa, Sylvia L

Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin‐binding site of antithrombin

对影响抗凝血酶肝素结合位点精氨酸残基的天然突变进行功能、生化和临床表征

Horn, Heike; Jurinovic, Vindi; Leich, Ellen; Kalmbach, Sabrina; Bausinger, Julia; Staiger, Annette M; Kurz, Katrin S; Möller, Peter; Bernd, Heinz-Wolfram; Feller, Alfred C; Koch, Karoline; Klapper, Wolfram; Stein, Harald; Hansmann, Martin-Leo; Hartmann, Sylvia; Scheubeck, Gabriel; Dreyling, Martin; Hiddemann, Wolfgang; Herfarth, Klaus; Engelhard, Marianne; Rosenwald, Andreas; Hoster, Eva; Ott, German; Cifuentes‐Riquelme, Rosa; de la Morena‐Barrio, María Eugenia; Miñano, Antonia; Garrido‐Rodríguez, Pedro; Velasco, Francisco; Rojo‐Carrillo, Juan José; López‐Correas, Paloma; Zaragoza‐Huesca, David; Padilla, José; Lozano, María Luisa; Bravo‐Pérez, Carlos; Corral, Javier

CAIX-targeted α therapy directed against hypoxic tumor cells in combination with immune checkpoint inhibitors in a syngeneic mouse tumor model

在同源小鼠肿瘤模型中,针对乏氧肿瘤细胞的CAIX靶向α疗法联合免疫检查点抑制剂

Wenker, Sylvia T M; Konijnenberg, Mark W; Lobeek, Daphne; Tamborino, Giulia; Molkenboer-Kuenen, Janneke D M; Franssen, Gerben M; Boreel, Daan F; Kleinendorst, Simone C; Peters, Hans; Bussink, Johan; van Lith, Sanne A M; Heskamp, Sandra

Transcriptional readthrough at Atf4 locus suppresses Rps19bp1 and impairs heart development.

Atf4 基因座的转录通读抑制 Rps19bp1 并损害心脏发育。

Zhang Zengming, Wu Tongbin, Chen Zeyu, Chen Danni, Liang Zhengyu, Adams Christopher, Gu Yusu, Ye Mao, Barroga Fhujjen, Evans Sylvia, Zhou Xiaohai, Chen Ju