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收藏分享 收藏 Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q新型生殖细胞ZCCHC8基因突变导致先天性角化不良，并通过12q染色体单亲二倍体实现遗传拯救
Donaires, Flavia S.; de Tocqueville, Sophie; Catto, Marilia Bazzo; Catto, Luiz Fernando Bazzo; Groarke, Emma M.; Santana, Barbara A.; Chandrasekharappa, Settara C.; Donovan, Frank X.; Halfon-Domenech, Carine; Young, Neal S.; Kannengiesser, Caroline; Calado, Rodrigo T.; Revy, Patrick; Gutierrez-Rodrigues, Fernanda 分享 收藏 Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyBenavides-Nieto, Marta; Adam, Frederic; Martin, Emmanuel; Boussard, Charlotte; Lagresle-Peyrou, Chantal; Callebaut, Isabelle; Kauskot, Alexandre; Reperant, Christelle; Feng, Miao; Bordet, Jean-Claude; Castelle, Martin; Morelle, Guillaume; Brouzes, Chantal; Zarhrate, Mohammed; Panikulam, Patricia; Lambert, Nathalie; Picard, Capucine; Bodet, Damien; Rouger-Gaudichon, Jeremie; Revy, Patrick; de Villartay, Jean-Pierre; Moshous, Despina 分享 收藏 Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disordersBertrand, Alexis; Ba, Ibrahima; Kermasson, Laetitia; Pirabakaran, Vithura; Chable, Noemie; Lainey, Elodie; Menard, Christelle; Kallel, Faten; Picard, Capucine; Hadiji, Sondes; Coolen-Allou, Nathalie; Blanchard, Elodie; de Villartay, Jean-Pierre; Moshous, Despina; Roelens, Marie; Callebaut, Isabelle; Kannengiesser, Caroline; Revy, Patrick 分享 收藏 分享 收藏 分享 收藏 Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and HumansVera, Gabriella; Rivera-Munoz, Paola; Abramowski, Vincent; Malivert, Laurent; Lim, Annick; Bole-Feysot, Christine; Martin, Christelle; Florkin, Benoit; Latour, Sylvain; Revy, Patrick; de Villartay, Jean-Pierre 分享 收藏 Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting人类抗天花长寿命记忆b细胞由脾脏生态位和持久的生发中心印记中的动态相互作用定义Chappert, Pascal; Huetz, Francois; Espinasse, Marie-Alix; Chatonnet, Fabrice; Pannetier, Louise; Da Silva, Lucie; Goetz, Clara; Megret, Jerome; Sokal, Aurelien; Crickx, Etienne; Nemazanyy, Ivan; Jung, Vincent; Guerrera, Chiara; Storck, Sebastien; Mahevas, Matthieu; Cosma, Antonio; Revy, Patrick; Fest, Thierry; Reynaud, Claude-Agnes; Weill, Jean-Claude 分享 收藏 分享 收藏 Replication stress triggered by nucleotide pool imbalance drives DNA damage and cGAS-STING pathway activation in NAFLDDonne, Romain; Saroul-Ainama, Maeva; Cordier, Pierre; Hammoutene, Adel; Kabore, Christelle; Stadler, Mira; Nemazanyy, Ivan; Galy-Fauroux, Isabelle; Herrag, Mounia; Riedl, Tobias; Chansel-Da Cruz, Marie; Caruso, Stefano; Bonnafous, Stephanie; Ollinger, Rupert; Rad, Roland; Unger, Kristian; Tran, Albert; Couty, Jean-Pierre; Gual, Philippe; Paradis, Valerie; Celton-Morizur, Severine; Heikenwalder, Mathias; Revy, Patrick; Desdouets, Chantal 分享 收藏 Somatic genetic rescue of a germline ribosome assembly defect (vol 12, 5044, 2021)Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick 分享 收藏 Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort StudyManali, Effrosyni D.; Kannengiesser, Caroline; Borie, Raphael; Ba, Ibrahima; Bouros, Demosthenes; Markopoulou, Aikaterini; Antoniou, Katerina; Kolilekas, Lykourgos; Papaioannou, Andriana I.; Tzilas, Vasileios; Tzouvelekis, Argyrios; Daniil, Zoe; Fouka, Evangelia; Papakosta, Despoina; Xyfteri, Areti; Karakatsani, Anna; Loukides, Stylianos; Korbila, Ioanna; Tomos, Ioannis P.; Konstantinidis, Athanasios K.; Gogali, Athina; Steiropoulos, Paschalis; Papanikolaou, Ilias C.; Bazaka, Chrysa; Haritou, Aggeliki; Vassilakopoulos, Theodoros; Maniati, Maria; Kagouridis, Konstantinos; Markozannes, Evangelos; Bouros, Evangelos; Rampiadou, Christina; Kounti, Georgia; Trachalaki, Athina; Dimeas, Ilias; Karampitsakos, Theodoros; Lyberopoulos, Panagiotis; Malamadakis, Nikolaos; Spyropoulou, Sofia; Revy, Patrick; Lainey, Elodie; Dieude, Philippe; Rebah, Khedidja; Menard, Christelle; Oudin, Claire; Masson, Cecile; Plessier, Aurelie; Legendre, Marie; Nathan, Nadia; Coulomb-L'Hermine, Aurore; Clement, Annick; Amselem, Serge; Boileau, Catherine; Crestani, Bruno; Papiris, Spyros 分享 收藏 Somatic genetic rescue of a germline ribosome assembly defectTan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick 分享 收藏 Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem CellsSole, Anna; Grossetete, Sandrine; Heintze, Maxime; Babin, Loelia; Zaidi, Sakina; Revy, Patrick; Renouf, Benjamin; De Cian, Anne; Giovannangeli, Carine; Pierre-Eugene, Cecile; Janoueix-Lerosey, Isabelle; Couronne, Lucile; Kaltenbach, Sophie; Tomishima, Mark; Jasin, Maria; Gruenewald, Thomas G. P.; Delattre, Olivier; Surdez, Didier; Brunet, Erika 分享 收藏 A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and HumansChansel-Da Cruz, Marie; Hohl, Marcel; Ceppi, Ilaria; Kermasson, Laetitia; Maggiorella, Laurence; Modesti, Mauro; de Villartay, Jean-Pierre; Ileri, Talia; Cejka, Petr; Petrini, John H. J.; Revy, Patrick 分享 收藏 Telomere-Related Gene mutations in a Greek cohort of suspected monogenic pulmonary fibrosis patientsManali, Effrosyni D.; Kannengiesser, Caroline; Borie, Raphael; Ba, Ibrahima; Bouros, Demosthenes; Tzilas, Vasilios; Tzouvelekis, Argyrios; Bouros, Evangelos; Markopoulou, Aikaterini; Antoniou, Katerina; Trachalaki, Athina; Kolilekas, Lykourgos; Daniil, Zoe; Fouka, Evangelia; Papakosta, Despoina; Xyfteri, Areti; Korbila, Ioanna; Papaioannou, Andriana, I; Tomos, Ioannis P.; Karakatsani, Anna; Loukides, Stylianos; Kagouridis, Konstantinos; Gogali, Athina; Konstantinidis, Athanasios; Steiropoulos, Paschalis; Papanikolaou, Ilias C.; Bazaka, Chrysa; Haritou, Aggeliki; Maniati, Maria; Vassilakopoulos, Theodoros; Markozannes, Evangelos; Lyberopoulos, Panagiotis; Malamadakis, Nikolaos; Spyropoulou, Sofia; Revy, Patrick; Lainey, Elodie; Dieude, Philippe; Nathan, Nadia; Legendre, Marie; Rebah, Khedidja; Menard, Christelle; Oudin, Claire; Boileau, Catherine; Crestani, Bruno; Papiris, Spyros 分享 收藏 分享 收藏 SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations (vol 27, pg 438, 2020)Takedachi, A.; Despras, E.; Scaglione, S.; Guerois, R.; Guervilly, J. H.; Blin, M.; Audebert, S.; Camoin, L.; Hasanova, Z.; Schertzer, M.; Guille, A.; Churikov, D.; Callebaut, I.; Naim, V.; Chaffanet, M.; Borg, J. P.; Bertucci, F.; Revy, P.; Birnbaum, D.; Londono-Vallejo, A.; Kannouche, P. L.; Gaillard, P. H. L. 分享 收藏 SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbationsTakedachi, A.; Despras, E.; Scaglione, S.; Guerois, R.; Guervilly, J. H.; Blin, M.; Audebert, S.; Camoin, L.; Hasanova, Z.; Schertzer, M.; Guille, A.; Churikov, D.; Callebaut, I; Naim, V; Chaffanet, M.; Borg, J. P.; Bertucci, F.; Revy, P.; Birnbaum, D.; Londono-Vallejo, A.; Kannouche, P. L.; Gaillard, P. H. L. 分享 收藏 
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