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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Perinatal morphine exposure induces long-term changes in the intestinal microbiota of male and female rats

围产期吗啡暴露可引起雄性和雌性大鼠肠道菌群的长期变化

Harder, Hannah J; Dauriat, Charlène J G; Chassaing, Benoit; Murphy, Anne Z

Thermoneutral housing worsens MASLD and reveals defective brown adipose tissue response to β3-adrenergic stimulation.

热中性住房会加剧 MASLD,并揭示棕色脂肪组织对 β3-肾上腺素能刺激的反应缺陷

Martin Céline Marie Pauline, Polizzi Arnaud, Alquier-Bacquié Valérie, Huillet Marine, Rives Clémence, Dauriat Charlène J G, Bruse Justine, Melin Valentine, Naylies Claire, Lippi Yannick, Lasserre Frédéric, Wan JingHong, Flores-Flores Rémy, Bertrand-Michel Justine, Blas-Y-Estrada Florence, Rousseau-Bacquié Elodie, Levade Thierry, Rémignon Hervé, Langin Dominique, Mouisel Etienne, Lotersztajn Sophie, Chassaing Benoit, Gamet-Payrastre Laurence, Guillou Hervé, Ellero-Simatos Sandrine, Fougerat Anne, Loiseau Nicolas

Increased delay to lung transplantation for women candidates: gender-based disparity matters in the lung transplant trajectory

女性肺移植候选人等待移植的时间延长:性别差异对肺移植进程的影响不容忽视

Tissot, Adrien; Coatanea, Anne-Sophie; Rousseau, Olivia; Roux, Antoine; Coiffard, Benjamin; Demant, Xavier; Renaud-Picard, Benjamin; Le Pavec, Jérôme; Magnan, Antoine; Mornex, Jean-François; Villeneuve, Thomas; Falque, Loïc; Salpin, Mathilde; Boussaud, Véronique; Knoop, Christiane; Reynaud-Gaubert, Martine; Kessler, Romain; Dauriat, Gaëlle; Lair, David; Foureau, Aurore; Blanc, François-Xavier; Karakachoff, Mathilde; Lemarchand, Patricia

Corrigendum to "Human metapneumovirus infection is associated with a substantial morbidity and mortality burden in adult inpatients" [Heliyon Volume 10, Issue 13, July 15, 2024, Article e33231]

对“人类偏肺病毒感染与成年住院患者严重的疾病负担和死亡负担相关”一文的更正[Heliyon 第 10 卷,第 13 期,2024 年 7 月 15 日,文章 e33231]

Philippot, Quentin; Rammaert, Blandine; Dauriat, Gaëlle; Daubin, Cédric; Schlemmer, Frédéric; Costantini, Adrien; Tandjaoui-Lambiotte, Yacine; Neuville, Mathilde; Desrochettes, Emmanuelle; Ferré, Alexis; Contentin, Laetitia Bodet; Lescure, François-Xavier; Megarbane, Bruno; Belle, Antoine; Dellamonica, Jean; Jaffuel, Sylvain; Meynard, Jean-Luc; Messika, Jonathan; Lau, Nicolas; Terzi, Nicolas; Runge, Isabelle; Sanchez, Olivier; Zuber, Benjamin; Guerot, Emmanuel; Rouze, Anahita; Pavese, Patricia; Bénézit, François; Quenot, Jean-Pierre; Souloy, Xavier; Fanton, Anne Lyse; Boutoille, David; Bunel, Vincent; Vabret, Astrid; Gaillat, Jacques; Bergeron, Anne; Lapidus, Nathanaël; Fartoukh, Muriel; Voiriot, Guillaume

Managing Cytomegalovirus Infection in Lung Transplant Recipients in Real Life: Results of a French Multicenter Survey

法国多中心调查:肺移植受者巨细胞病毒感染的真实管理

Goletto, Tiphaine; El Husseini, Kinan; Roux, Antoine; Briard, Mathilde; Dauriat, Gaelle; Renaud-Picard, Benjamin; Merveilleux du Vignaux, Claire; Falque, Loic; Coiffard, Benjamin; Villeneuve, Thomas; Demant, Xavier; Tissot, Adrien; Mouren, Domitille; Carlier, Francois M; Alain, Sophie; Messika, Jonathan; Bunel, Vincent

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍

Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

Specific risk factors for heart-lung transplantation

心肺移植的特定风险因素

Issard, Justin; Le Pavec, Jérôme; Dauriat, Gaelle; Valdeolmillos, Estibaliz; Hascoet, Sébastien; Andarelli, Jean Noel; Diop, Sylvain; Genty, Thibaut; Savale, Laurent; Mercier, Olaf; Fadel, Elie