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

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

两个家族中威斯科特-奥尔德里奇综合征的病因是WAS启动子变异

Ober, Pauline; Lenoir, Christelle; Maillard, Arnaud; Vigue, Marie-Gabrielle; Willems, Marjolaine; Baron-Joly, Sandrine; Aubert, Carole E; Tinner, Eva Maria; Lambert, Nathalie; El Missaoui, Iben; Parisot, Frédéric; Fayand, Antoine; Seeleuthner, Yoann; Hanein, Sylvain; Le Voyer, Tom; Broly, Martin; Boursier, Guilaine; Casanova, Jean-Laurent; Zhang, Peng; Schmid, Jana Pachlopnik; Latour, Sylvain; Rosain, Jérémie

Chemically-induced degradation of the endoplasmic-reticulum stress sensor IRE1 by a VHL-recruiting chimera.

VHL募集嵌合体通过化学方法诱导内质网应激传感器IRE1的降解。

Du Jin, Villemure Elisia, Johnson Matthew, Azumaya Caleigh, Gaspar Catarina J, Marsters Scot, Lawrence David, Foster Scott, Rohou Alexis, Cheung Tommy K, Rose Christopher M, Garner Thomas, Ro Soo, Clark Kevin, Beresini Maureen H, Braun Marie-Gabrielle, Rudolph Joachim, Hsu Peter, Ashkenazi Avi

Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification

整合神经退行性疾病和血管风险的多基因评分可用于痴呆风险分层

D'Aoust, Tim; Clocchiatti-Tuozzo, Santiago; Rivier, Cyprien A; Mishra, Aniket; Hachiya, Tsuyoshi; Grenier-Boley, Benjamin; Soumaré, Aïcha; Duperron, Marie-Gabrielle; Le Grand, Quentin; Bouteloup, Vincent; Proust-Lima, Cécile; Samieri, Cécilia; Neuffer, Jeanne; Sargurupremraj, Muralidharan; Chêne, Geneviève; Helmer, Catherine; Thibault, Mura; Amouyel, Philippe; Lambert, Jean-Charles; Kamatani, Yoichiro; Jacqmin-Gadda, Hélène; Tregouët, David-Alexandre; Inouye, Michael; Dufouil, Carole; Falcone, Guido J; Debette, Stéphanie

Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn

胎儿和新生儿溶血病产后管理的差异和机遇

de Winter, Derek P; Verweij, E J T Joanne; Debeer, Anne; Devlieger, Roland; Lewi, Liesbeth; Verbeeck, Sarah; Maurice, Paul; Jouannic, Jean-Marie; Guillemin, Marie-Gabrielle; Mailloux, Agnès; Pessoa Dos Santos, Maria Cristina; Amaral de Moura Sá Pacheco, Cynthia; Lopes Moreira, Maria Elisabeth; Martins de Vasconcelos Vaena, Marcella; Bohlin, Kajsa; Tiblad, Eleonor; Thorup, Emilie; Petersen, Olav Bjørn; Sanchez-Holgado, Maria; Viejo Llorente, Aurora; Poljak, Borna; Khalil, Asma; Le Duc, Kévin; Ghesquiere, Louise; Lozar Krivec, Jana; Soltirovska-Šalamon, Aneta; Dame, Christof; Blank, Jessica D; Hohnecker, Alexander; Saxonhouse, Matthew; Connors, Ngina K; Geipel, Annegret; Rath, Johanna; Prasad, Smriti; van Wyk, Lizelle; Geerts, Lut; Schuler, Rahel; Thon, Nina; Leibovitch, Leah; Cohen, Stav; Canul-Euan, Arturo Alejandro; Kelly, Edmond; Raghuram, Kamini; Cavigioli, Francesco; Colombo, Sofia Fatima Guiseppina; Elanjikal, Ziju; Brayley, Jessica; Pfurtscheller, Daniel; Pichler, Gerhard; Alcázar Grisi, Ángel Guillermo; Chávez Navarro, Edgar Juan José; Pereira-Nunes, Joana; Soares, Henrique; Zhou, Ming; Garcia Borau, María José; Moliner Calderón, Elisenda; Galletti, Maria Fernanda; Mariani, Gonzalo Luis; Mackin, David; Malone, Fergal; Lampland, Andrea; Tse, Wing Ting; Castleman, James; van der Bom, Johanna G; de Haas, Masja; Lopriore, Enrico

A nonenzymatic dependency on inositol-requiring enzyme 1 controls cancer cell cycle progression and tumor growth.

对肌醇需求酶 1 的非酶促依赖性控制着癌细胞周期进程和肿瘤生长

Zuazo-Gaztelu Iratxe, Lawrence David, Oikonomidi Ioanna, Marsters Scot, Pechuan-Jorge Ximo, Gaspar Catarina J, Kan David, Segal Ehud, Clark Kevin, Beresini Maureen, Braun Marie-Gabrielle, Rudolph Joachim, Modrusan Zora, Choi Meena, Sandoval Wendy, Reichelt Mike, DeWitt David C, Kujala Pekka, van Dijk Suzanne, Klumperman Judith, Ashkenazi Avi

Application of a high-density microelectrode array assay using a 3D human iPSC-derived brain microphysiological system model for in vitro neurotoxicity screening of environmental compounds.

应用高密度微电极阵列检测技术,利用 3D 人类 iPSC 衍生脑微生理系统模型对环境化合物进行体外神经毒性筛选

Carstens Kelly E, Gronskaya Elena, Jäckel David, Bertoli Jessica, Cuevas Kelvin Ramirez, Dorier Julien, Wang Shan, Lopez-Rodriguez David, Shafer Timothy J, Zurich Marie-Gabrielle, Pamies David

Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile

来自 ATM 致病变异携带者的乳腺肿瘤表现出特定的全基因组 DNA 甲基化谱

Viart, Nicolas M; Renault, Anne-Laure; Eon-Marchais, Séverine; Jiao, Yue; Fuhrmann, Laetitia; El Houdigui, Sophia Murat; Le Gal, Dorothée; Cavaciuti, Eve; Dondon, Marie-Gabrielle; Beauvallet, Juana; Raynal, Virginie; Stoppa-Lyonnet, Dominique; Vincent-Salomon, Anne; Andrieu, Nadine; Southey, Melissa C; Lesueur, Fabienne

Enhancing Comorbidity Management in Patients With Hemorrhagic Stroke via an Electronic Health Record-Linked Best Practice Alert: A Pre/Post Study

通过电子健康记录关联的最佳实践警示加强出血性卒中患者的合并症管理:一项前后对照研究

Prapiadou, Savvina; Tack, Reinier W P; Kimball, Tamara N; Mora, Samantha; Choksi, Devanshi; Duperron, Marie-Gabrielle; Senff, Jasper R; Kourkoulis, Christina; Singh, Sanjula D; Yechoor, Nirupama; Parodi, Livia; Tan, Benjamin Y Q; Rosand, Jonathan; Mayerhofer, Ernst; Anderson, Christopher D

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

乳腺癌筛查:DNA修复基因中罕见有害或预测有害变异与风险差异的关系

Ribeiro-Guerra, Maximiliano; Dondon, Marie-Gabrielle; Eon-Marchais, Séverine; Le Gal, Dorothée; Beauvallet, Juana; Mebirouk, Noura; Belotti, Muriel; Cavaciuti, Eve; Adenis-Lavignasse, Claude; Audebert-Bellanger, Séverine; Berthet, Pascaline; Bonadona, Valérie; Buecher, Bruno; Caron, Olivier; Cavaille, Mathias; Chiesa, Jean; Colas, Chrystelle; Coupier, Isabelle; Delnatte, Capucine; Dreyfus, Hélène; Fajac, Anne; Fert-Ferrer, Sandra; Fricker, Jean-Pierre; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Lasset, Christine; Lejeune-Dumoulin, Sophie; Limacher, Jean-Marc; Longy, Michel; Lortholary, Alain; Luporsi, Elisabeth; Maugard, Christine M; Mortemousque, Isabelle; Nambot, Sophie; Noguès, Catherine; Pujol, Pascal; Venat-Bouvet, Laurence; Soubrier, Florent; Tinat, Julie; Tardivon, Anne; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Andrieu, Nadine

Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit

对儿科重症监护病房因严重感染住院的患者进行原发性免疫缺陷的系统性筛查

Deguet, Anna; Vigue, Marie-Gabrielle; Lozano, Claire; Baleine, Julien; Milesi, Christophe; Sirvent, Anne; Kollen, Laura; Domitien, Léa; Willems, Marjolaine; Donadieu, Jean; Bellané-Chantelot, Christine; Defendi, Federica; El Sissy, Carine; Spraul, Anne; Rosain, Jérémie; Picard, Capucine; Pissarra, Joana; Mollevi, Caroline; Herman, Fanchon; Bustamante, Jacinta; Jeziorski, Eric