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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability 杂合UBR5变异导致神经发育综合征伴发育迟缓、自闭症和智力障碍 Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M. 分享 收藏
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59) 更正: 神经发育和神经退行性疾病Bryant-li-bhoj综合征的扩展表型谱与38个额外的个体 (第3卷，2024，59) Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M. 分享 收藏
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism Dohrn, Maike F.; Bademci, Guney; Rebelo, Adriana P.; Jeanne, Mederic; Borja, Nicholas A.; Beijer, Danique; Danzi, Matt C.; Bivona, Stephanie A.; Gueguen, Paul; Zafeer, Mohammad F.; Tekin, Mustafa; Zuchner, Stephan 分享 收藏
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Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake Civit, Antoine; Gueguen, Paul; Blasco, Helene; Benz-de-Bretagne, Isabelle; Lebredonchel, Elodie; Dingeo, Giulia; Jeanne, Mederic; Rouxel, Sophie; Tardieu, Marine; Raynor, Alexandre; Labarthe, Francois; Bruneel, Arnaud; Goetz, Violette 分享 收藏
SUV39H1 Ablation Enhances Long-term CAR T Function in Solid Tumors SUV39H1消融增强实体瘤的长期car-t功能 Lopez-Cobo, Sheila; Fuentealba, Jaime R.; Gueguen, Paul; Bonte, Pierre-Emmanuel; Tsalkitzi, Kyriaki; Chacon, Irena; Glauzy, Salome; Bohineust, Armelle; Biquand, Ariane; Silva, Lisseth; Gouveia, Zelia; Goudot, Christel; Perez, Franck; Saitakis, Michael; Amigorena, Sebastian 分享 收藏
CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas (vol 13, 3739, 2022) Niborski, Leticia Laura; Gueguen, Paul; Ye, Mengliang; Thiolat, Allan; Ramos, Rodrigo Nalio; Caudana, Pamela; Denizeau, Jordan; Colombeau, Ludovic; Rodriguez, Raphael; Goudot, Christel; Luccarini, Jean-Michel; Soude, Anne; Bournique, Bruno; Broqua, Pierre; Pace, Luigia; Baulande, Sylvain; Sedlik, Christine; Quivy, Jean-Pierre; Almouzni, Genevieve; Cohen, Jose L.; Zueva, Elina; Waterfall, Joshua J.; Amigorena, Sebastian; Piaggio, Eliane 分享 收藏
Lipid-Associated Macrophages Are Induced by Cancer-Associated Fibroblasts and Mediate Immune Suppression in Breast Cancer 脂质相关巨噬细胞由癌症相关成纤维细胞诱导并介导乳腺癌的免疫抑制 Timperi, Eleonora; Gueguen, Paul; Molgora, Martina; Magagna, Ilaria; Kieffer, Yann; Lopez-Lastra, Silvia; Sirven, Philemon; Baudrin, Laura G.; Baulande, Sylvain; Nicolas, Andre; Champenois, Gabriel; Meseure, Didier; Vincent-Salomon, Anne; Tardivon, Anne; Laas, Enora; Soumelis, Vassili; Colonna, Marco; Mechta-Grigoriou, Fatima; Amigorena, Sebastian; Romano, Emanuela 分享 收藏
CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas Niborski, Leticia Laura; Gueguen, Paul; Ye, Mengliang; Thiolat, Allan; Ramos, Rodrigo Nalio; Caudana, Pamela; Denizeau, Jordan; Colombeau, Ludovic; Rodriguez, Raphael; Goudot, Christel; Luccarini, Jean-Michel; Soude, Anne; Bournique, Bruno; Broqua, Pierre; Pace, Luigia; Baulande, Sylvain; Sedlik, Christine; Quivy, Jean-Pierre; Almouzni, Genevieve; Cohen, Jose L.; Zueva, Elina; Waterfall, Joshua J.; Amigorena, Sebastian; Piaggio, Eliane 分享 收藏
Extracellular vesicles from triple negative breast cancer promote pro-inflammatory macrophages associated with better clinical outcome 来自三阴性乳腺癌的细胞外囊泡促进与更好的临床结果相关的促炎性巨噬细胞 Tkach, Mercedes; Thalmensi, Jessie; Timperi, Eleonora; Gueguen, Paul; Nevo, Nathalie; Grisard, Eleonora; Sirven, Philemon; Cocozza, Federico; Gouronnec, Alizee; Martin-Jaular, Lorena; Jouve, Mabel; Delisle, Fabien; Manel, Nicolas; Rookhuizen, Derek C.; Guerin, Coralie L.; Soumelis, Vassili; Romano, Emanuela; Segura, Elodie; Thery, Clotilde 分享 收藏
Splicing Patterns in SF3B1-Mutated Uveal Melanoma Generate Shared Immunogenic Tumor-Specific Neoepitopes Bigot, Jeremy; Lalanne, Ana, I; Lucibello, Francesca; Gueguen, Paul; Houy, Alexandre; Dayot, Stephane; Ganier, Olivier; Gilet, Jules; Tosello, Jimena; Nemati, Fariba; Pierron, Gaelle; Waterfall, Joshua J.; Barnhill, Raymond; Gardrat, Sophie; Piperno-Neumann, Sophie; Popova, Tatiana; Masson, Vanessa; Loew, Damarys; Mariani, Pascale; Cassoux, Nathalie; Amigorena, Sebastian; Rodrigues, Manuel; Alsafadi, Samar; Stern, Marc-Henri; Lantz, Olivier 分享 收藏
Contribution of resident and circulating precursors to tumor-infiltrating CD8+ T cell populations in lung cancer 常驻和循环前体对肺癌中肿瘤浸润性CD8 T细胞群的贡献 Gueguen, Paul; Metoikidou, Christina; Dupic, Thomas; Lawand, Myriam; Goudot, Christel; Baulande, Sylvain; Lameiras, Sonia; Lantz, Olivier; Girard, Nicolas; Seguin-Givelet, Agathe; Lefevre, Marine; Mora, Thierry; Walczak, Aleksandra M.; Waterfall, Joshua J.; Amigorena, Sebastian 分享 收藏
Human lymphoid organ cDC2 and macrophages play complementary roles in T follicular helper responses Durand, Melanie; Walter, Thomas; Pirnay, Tiphene; Naessens, Thomas; Gueguen, Paul; Goudot, Christel; Lameiras, Sonia; Chang, Qing; Talaei, Nafiseh; Ornatsky, Olga; Vassilevskaia, Tatiana; Baulande, Sylvain; Amigorena, Sebastian; Segura, Elodie 分享 收藏
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Aryl Hydrocarbon Receptor Controls Monocyte Differentiation into Dendritic Cells versus Macrophages 芳香烃受体控制单核细胞分化为树突状细胞与巨噬细胞 Goudot, Christel; Coillard, Alice; Villani, Alexandra-Chloe; Gueguen, Paul; Cros, Adeline; Sarkizova, Siranush; Tang-Huau, Tsing-Lee; Bohec, Mylene; Baulande, Sylvain; Hacohen, Nir; Amigorena, Sebastian; Segura, Elodie 分享 收藏
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