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

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy

反义寡核苷酸介导的基因敲低疗法治疗两名患有严重KCNT1癫痫性脑病的婴儿

Nakayama, Tojo; El Achkar, Christelle M; Burbano, Lisseth E; Quraishi, Imran H; Wu, Jing; Li, Melody; Asami, Yutaro; Golinski, Sean R; Sherrill, Emma; Goodlett, Benjamin D; de Gusmao, Claudio M; Friedman, Danielle A; Lentucci, Claudia; Suslovitch, Victoria; Riccardi, Olivia; Faour, Kamli N W; Kuniholm, Ashley; Soucy Verran, Aubrie; Coffman, Siobhan; Ahtam, Banu; Zhao, Boxun; Chin, Diana H; DiDonato, Renata L; Hu, Chunguang A; Lopez, Edith; Hills, Sonia; Maljevic, Snezana; Tran, Helene; Bush, Lynn W; Grant, Patricia Ellen; Madsen, Joseph R; Smith, Richard S; Kaczmarek, Leonard K; Berde, Charles B; Yu, Timothy W

Eight millennia of continuity of a previously unknown lineage in Argentina

阿根廷一条此前不为人知的血统延续了八千年之久

Maravall-López, Javier; Motti, Josefina M B; Pastor, Nicolás; Tavella, María Pía; Fabra, Mariana; Babot, Pilar; Bonomo, Mariano; Cornero, Silvia E; Lamenza, Guillermo N; Leon, Diego Catriel; Miranda de Zela, Paula C; Politis, Gustavo G; Angeletti, Sofía C; Cattáneo, G Roxana; Dantas, Mariana; Drube, Hilton; Gonzalez Baroni, Lucia G; Hocsman, Salomón; Izeta, Andrés D; Moralejo, Reinaldo A; Aldazabal, Verónica; Basso, Diego M; Bayón, Cristina; Couso, María Guillermina; D'Andrea, Ulises; Del Río, Paula; Figueroa, Germán G; Frontini, Romina; Gonzalez, Mariela Edith; Laguens, Andrés G; Martínez, Jorge G; Messineo, Pablo G; Nores, Beatriz; Olivera, Daniel E; Sario, Gisela M; Sbattella, Analía; Scabuzzo, Clara; Tavarone, Aldana M; Vecchi, Rodrigo; Callan, Kim; Caughran, Ella; Estrada, Oscar; Frost, Trudi; Iliev, Lora; Kearns, Aisling; Kellogg, Jack; Krettek, Kim-Louise; Lawson, Ann Marie; Mah, Matthew; Manjila, Nihal; Micco, Adam; Patterson, Iris; Qiu, Lijun; Roca-Rada, Xavier; Soos, Gregory; Webb, Peter A; Workman, J Noah; Rohland, Nadin; Patterson, Nick; Lazaridis, Iosif; Fehren-Schmitz, Lars; Posth, Cosimo; Llamas, Bastien; Mallick, Swapan; Demarchi, Darío A; Cabana, Graciela S; Reich, David; Nores, Rodrigo

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

Impact of CFTR Modulator Concentrations on Clinical Response in Cystic Fibrosis

CFTR调节剂浓度对囊性纤维化临床反应的影响

Chalamalla, Ashritha R; Baker, Elizabeth; Ryan, Kevin J; Dowell, Alexander; Natt, Jennifer R; Zemanick, Edith T; Konstan, Michael W; Mayer-Hamblett, Nicole; Acosta, Edward P; Guimbellot, Jennifer S

Cognitive Impairment and Chemoendocrine vs Endocrine Therapy in Pre- and Postmenopausal Women: A Secondary Analysis of the RxPONDER Randomized Clinical Trial

认知障碍与绝经前和绝经后妇女的化学内分泌治疗与内分泌治疗:RxPONDER随机临床试验的二次分析

Kang, Irene M; Forschmiedt, Jamie K; Loch, Michelle M; Lew, Danika L; Barlow, William E; Gralow, Julie R; Meric-Bernstam, Funda; Albain, Kathy S; Hayes, Daniel F; Lin, Nancy U; Perez, Edith A; Goldstein, Lori J; Rastogi, Priya; Schott, Anne F; Baehner, Rick; Sharma, Priyanka; Tripathy, Debasish; Pusztai, Lajos; Hortobagyi, Gabriel N; Kalinsky, Kevin; Henry, N Lynn

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

Multiomics Profiling of T-cell Leukemia and Lymphoma Enables Targeted Therapeutic Discovery.

T细胞白血病和淋巴瘤的多组学分析可实现靶向治疗的发现。

Ianevski Aleksandr, Nader Kristen, Nguyen Julia, Sorger Helena, Timonen Sanna, Julia Edith, Pölöske Daniel, Spirk Katrin, Wagner Christina, Jungherz Dennis, Nakano Minoru, Kadambat Nair Sisira, Ianevski Philipp, Kankainen Matti, Dias Diogo, Cichońska Anna, Pemovska Tea, Pirker Christine, Berger Walter, Braun Till, Moriggl Richard, Bachy Emmanuel, Mustjoki Satu, Herling Marco, Neubauer Heidi A, Haibe-Kains Benjamin, Aittokallio Tero

Single-cell genomics highlight MYC-associated metabolic activation and altered cell interactions in T-prolymphocytic leukemia progression

单细胞基因组学揭示了MYC相关的代谢激活和T前淋巴细胞白血病进展中的细胞相互作用改变

Wahnschaffe, Linus; Jungherz, Dennis; Müller, Tony A; Pemovska, Tea; Pichler, Alexander; Poulain, Stéphanie; Julia, Edith; Timonen, Sanna; Böttcher, Martin; Jiang, Qu; Beverungen, David; Bischoff, Julia; Franitza, Marek; Georgomanolis, Theodoros; Becker, Kerstin; Hallek, Michael; Mougiakakos, Dimitrios; Zenz, Thorsten; Mustjoki, Satu; Bachy, Emmanuel; Herbaux, Charles; Schrader, Alexandra; Pflug, Natali; Staber, Philipp B; Braun, Till; Herling, Marco

Clay-organic matter interactions drive microbial necromass preservation in soils

粘土与有机质的相互作用驱动土壤中微生物死亡物质的保存

Wang, Xu; Kallenbach, Cynthia M; Almaraz, Maya; Georgiou, Katerina; Sun, Lifei; Sang, Changpeng; Jiang, Ping; Liu, Yue; Bai, Edith; Wang, Chao

Multi-isotope analysis of mammal bones provides environmental context for the adoption of agriculture in the Tehuacan Valley of Mexico

对哺乳动物骨骼进行多同位素分析,为墨西哥特瓦坎山谷农业的开展提供了环境背景。

Somerville, Andrew D; Casar, Isabel; Hernández-Flores, Rocío; Otero, Francisco; Alvarado, Edith Cienfuegos; Dalmas, Daniel; Arroyo-Cabrales, Joaquín; Flannery, Kent V; Morales-Puente, Pedro; Beramendi-Orosco, Laura E