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

Structural basis of GAIN domain autoproteolysis and cleavage-resistance in the adhesion G-protein coupled receptors

粘附性G蛋白偶联受体中GAIN结构域自蛋白水解和抗切割的结构基础

Pohl, Fabian; Seufert, Florian; Chung, Yin Kwan; Schick, Robin; Kieslich, Björn; Schöneberg, Torsten; Langenhan, Tobias; Hildebrand, Peter W; Sträter, Norbert

Host immunogenetic variation and gut microbiome functionality in a wild vertebrate population

野生脊椎动物种群中的宿主免疫遗传变异和肠道微生物组功能

Lee, Chuen Zhang; Worsley, Sarah F; Davies, Charli S; Komdeur, Jan; Hildebrand, Falk; Dugdale, Hannah L; Richardson, David S

Copper is an intestinal habitat filter affecting the gut microbiota interactions with Salmonella Typhimurium

铜是肠道生境过滤器,影响肠道菌群与鼠伤寒沙门氏菌的相互作用。

Kolenda, Rafał; Hassan, Marwa M; Arrieta-Gisasola, Ainhoa; Kamara, Abioseh; Ansorge, Rebecca; Sidorczuk, Katarzyna; Acton, Luke; Thilliez, Gaëtan; Baker, Dave J; Burdukiewicz, Michał; Stares, Mark D; Browne, Hilary P; Le Gall, Gwenaelle; Torres, Ricardo C; Chavez-Arroyo, Alfredo; Garrett, John; Stevens, Mark P; Lawley, Trevor D; Bäumler, Andreas J; La Ragione, Roberto; Hildebrand, Falk; Kingsley, Robert A

Lipoic Acid for Treatment of Progressive Multiple Sclerosis: A Phase 2 Randomized Clinical Trial

硫辛酸治疗进行性多发性硬化症:一项 II 期随机临床试验

Spain, Rebecca I; Paz Soldán, M Mateo; Freedman, Mark S; Repovic, Pavle; Solomon, Andrew J; Rinker, John Robert; Wallin, Mitchell T; Haselkorn, Jodie K; Stuve, Olaf; Gross, Robert H; Waslo, Carin Stewart; Hildebrand, Andrea; Morris, Cynthia D; Mitchell, Julie; Turner, Aaron P; Schwartz, Daniel L; Metz, Jill; Rooney, William

From brown to white: Brown adipose tissue endothelial cells whiten in culture conditions.

由棕色变为白色:棕色脂肪组织内皮细胞在培养条件下会变白。

Elschner Tabea, Grein Stephan, Sander Jana, Hildebrand Staffan, Heubach Lara, Pannwitz Nina, Mircea Maria, Raimundez Elba, Karagiannakou Vasiliki, Georgiadi Anastasia, Heeren Joerg, Hasenauer Jan, Pfeifer Alexander, Wilhelm-Jüngling Kerstin

Endothelial ADGRF5(GPR116) governs vascular adaptation required for sustained thermogenic remodeling of brown adipose tissue.

内皮细胞 ADGRF5(GPR116) 控制着棕色脂肪组织持续产热重塑所需的血管适应。

El-Merahbi Rabih, Karagiannakou Vasiliki, Kardinal Ronja, Seep Lea, Lindner Richard, Jäckstein Michelle Ynonne, Hildebrand Staffan, Hasic Mersiha, Korkmaz Eylül, Jha Ankush Kumar, Krokidi Aspasia Thodou, Dyar Kenneth, Meissner Felix, Grein Stephan, Heeren Jörg, Klingenspor Martin, Pfeifer Alexander, Hasenauer Jan, Wachten Dagmar, Herzig Stephan, Georgiadi Anastasia

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

The inhibition of the MRN complex by Mirin radiosensitizes particularly HPV-negative HNSCC cell lines

Mirin对MRN复合物的抑制作用可增强HPV阴性头颈部鳞状细胞癌(HNSCC)细胞系的放射敏感性。

Hildebrand, Laura S; Mehravani, Babak Pornour; Khalifa, Mohammed; Schiller, Paula; Langkrär, Janis; Jost, Tina; Fietkau, Rainer; Distel, Luitpold V

Response to the Letter to the Editor Entitled "Interleukin-18: A Critical Culprit in Inflammatory Renal Disease"

对题为“白细胞介素-18:炎症性肾病的关键罪魁祸首”的读者来信的回应

Barbir, Elena-Bianca; Ghimire, Anukul; Stokowski, Taryn; Thennakoonwela, Pram; Brassington, Rebecca; Churngchow, Wirongrong; Nasr, Samih H; Gowrishankar, Manjula; Hildebrand, Ainslie; Solez, Kim