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

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve

全基因组和转录组分析鉴定出多个候选基因,并揭示了二叶式主动脉瓣中显著的多基因贡献

Thériault, Sébastien; Holdcraft, Jacob A; Sharipova, Dinara; Faucherre, Adèle; Debiec, Radoslaw M; Peloso, Gina M; Al-Kassou, Baravan; Aranki, Sary; Ashikhmina Swan, Elena; Ballotta, Andrea; Bellino, Michele; Björck, Hanna M; Boureau, Anne Sophie; Braund, Peter S; Corriveau, François; Dagenais, François; Folkersen, Lasse; Forte, Amalia; Francke, Michael D; Frigiola, Alessandro; Gorbatov, Svetlana; Guo, Dongchuan; Habchi, Karam M; Heydarpour, Mahyar; Isselbacher, Eric M; Jopling, Chris; Laporte, Fabien; Le Scouarnec, Solena; Li, Zhonglin; Lichtner, Peter; Maj, Carlo; Manikpurage, Hasanga D; Nelson, Christopher P; Nguyen, Thy B; Norris, Russell A; Ong, Chin Siang; Pibarot, Philippe; Roychowdhury, Tanmoy; Sarubbi, Berardo; Simonet, Floriane; Sundt, Thoralf; Surakka, Ida; Tessler, Idit; Willer, Cristen J; Wittmann, Susanne; Yang, Bo; Berezovets, Igor; Doppler, Stefanie A; Dreßen, Martina; Knoll, Katharina; Puehler, Thomas; Schunkert, Heribert; Avierinos, Jean-François; Bissell, Malenka M; Bolger, Aidan P; Bossé, Yohan; Bossone, Eduardo; Brion, María; Citro, Rodolfo; de Vincentiis, Carlo; Deeb, G Michael; Della Corte, Alessandro; Dina, Christian; Durst, Ronen; Ensminger, Stephan; Eriksson, Per; Evangelista, Arturo; Franco-Cereceda, Anders; Gilon, Dan; Giusti, Betti; Hetherington, Simon L; Huggins, Gordon S; Krane, Markus; Le Tourneau, Thierry; Limongelli, Giuseppe; Mathieu, Patrick; Messika-Zeitoun, David; Michelena, Hector I; Milewicz, Dianna; Muehlschlegel, Jochen D; Murdock, David R; Nickenig, Georg; Nistri, Stefano; Nöthen, Markus M; Pluchinotta, Francesca; Prakash, Siddharth K; Samani, Nilesh J; Schott, Jean-Jacques; Webb, Tom R; Zaffran, Stéphane; Abdelilah-Seyfried, Salim; Eagle, Kim; Schumacher, Johannes; Trenkwalder, Teresa; Body, Simon C

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

Recurrent Resistance Mutations to Lirafugratinib Inform Treatment Sequencing in FGFR2-Driven Tumors.

对利拉夫格拉替尼的复发性耐药突变可指导 FGFR2 驱动肿瘤的治疗顺序。

Facchinetti Francesco, Hollebecque Antoine, Barbé Rémy, Jang Dong Man, Alonso-De-Castro Beatriz, Brayé Floriane, Bigot Ludovic, Nobre Catline, Da Silva Alice, Méteau Mélissandre, Delavigne Mathis, Soares Miguel, Italiano Antoine, Rodriguez Julieta, Mosele Fernanda, Beshiri Kristi, Ducreux Michel, Boilève Alice, Nikolaev Sergey, Alonso-Garcia Inmaculada, Vasseur Damien, Smolenschi Cristina, Bourien Héloise, Cotteret Sophie, Samaniego Juliette, Bernard Elsa, Nicotra Claudio, Ngo-Camus Maud, Nakazawa Seshiru, Tselikas Lambros, Badoual Cécile, André Fabrice, Eck Michael J, Olaussen Ken A, Loriot Yohann, Friboulet Luc

NOX4-derived oxidative DNA damage impairs thyroid differentiation through an epigenetic mechanism in BRAF-mutated radioactive iodine refractory papillary thyroid cancer cells.

NOX4 衍生的氧化性 DNA 损伤通过表观遗传机制损害 BRAF 突变的放射性碘难治性乳头状甲状腺癌细胞的甲状腺分化。

Radom Mickaëlle, Buffet Camille, Cazarin Juliana, Harinquet Marylin, de Faria Caroline Coelho, Brayé Floriane, Nobre Catline, Aglave Marine, Mesloub Yasmina, Dayris Thibault, Droin Nathalie, Godefroy Karine, Bani Mohamed-Amine, Ghuzlan Abir Al, Leboulleux Sophie, Lamartina Livia, Dupuy Corinne

Teclistamab for heavily pretreated relapsed/refractory POEMS syndrome

Teclistamab 用于治疗既往接受过大量治疗的复发/难治性 POEMS 综合征

Talbot, Alexis; Forgeard, Nathalie; Vaugeois, Tristan; Theves, Floriane; Dimassi, Sabrine; Royer, Bruno; Debureaux, Pierre-Edouard; Meignin, Véronique; Vercellino, Laetitia; Boutboul, David; Arnulf, Bertrand; Harel, Stéphanie

SPARC: a structural pathogenicity algorithm for risk classification of hERG variants

SPARC:一种用于hERG变异风险分类的结构致病性算法

Chatelain, Frank C; de Oliveira, Barbara Ribeiro; Grataloup, Guillaume; Robert, Noé; Alameh, Malak; Thollet, Aurélie; Montnach, Jérôme; Feliciangeli, Sylvain; Rio, Aline; Bibault, Floriane; Bichet, Delphine; Bignucolo, Olivier; Extramiana, Fabrice; Majumder, Rupamanjari; Schott, Jean-Jacques; Probst, Vincent; Denjoy, Isabelle; Lesage, Florian; Loussouarn, Gildas; De Waard, Michel

Genomic introgressions from wild relatives in the wheat genome alter meiotic dynamics in inter-varietal hybrids

小麦基因组中来自野生近缘种的基因组渗入改变了品种间杂交种的减数分裂动态

Yan, Luxi; Chéron, Floriane; Nadaud, Isabelle; Hao, Ming; Liu, Dengcai; Sourdille, Pierre

Impact of Antihypertensive Treatment on Outcomes of Adjuvant Bevacizumab for Ovarian Cancer (IATRO), Results from a Nationwide Emulated Clinical Trial

抗高血压治疗对卵巢癌辅助贝伐珠单抗治疗结果的影响(IATRO):一项全国性模拟临床试验的结果

Jochum, Floriane; Dumas, Élise; Salem, Joe-Elie; Ederhy, Stéphane; Hamy, Anne-Sophie; Lecointre, Lise; Laas, Enora; Reyal, Fabien; Lecuru, Fabrice; Akladios, Cherif; Gougis, Paul

Preserved Function of Endothelial Colony-Forming Cells in Female Rats with Intrauterine Growth Restriction: Protection Against Arterial Hypertension and Arterial Stiffness?

子宫内生长受限雌性大鼠内皮集落形成细胞功能的保留:对动脉高血压和动脉僵硬的保护作用?

Chevalley, Thea; Bertholet, Floriane; Dübi, Marion; Merli, Maria Serena; Charmoy, Mélanie; Bron, Sybil; Allouche, Manon; Sarre, Alexandre; Sekarski, Nicole; Simoncini, Stéphanie; Taffé, Patrick; Simeoni, Umberto; Yzydorczyk, Catherine

Methodology insights and population characteristics of the Nutri-Bébé 2022 study: study design, sample description, and data collection

Nutri-Bébé 2022 研究的方法学见解和人群特征:研究设计、样本描述和数据收集

Chouraqui, Jean-Pierre; Brancato, Sandra; Vieux, Florent; Poulain, Floriane