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Material Type: Artigo
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HSP90 Shapes the Consequences of Human Genetic VariationKarras, Georgios I. ; Yi, Song ; Sahni, Nidhi ; Fischer, Máté ; Xie, Jenny ; Vidal, Marc ; D’Andrea, Alan D. ; Whitesell, Luke ; Lindquist, SusanCell, 2017-02, Vol.168 (5), p.856-866.e12 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Molecular pathogenesis and clinical management of Fanconi anemiaKee, Younghoon ; D'Andrea, Alan DThe Journal of clinical investigation, 2012-11, Vol.122 (11), p.3799-3806 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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Material Type: Artigo
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Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patientsHira, Asuka ; Yabe, Hiromasa ; Yoshida, Kenichi ; Okuno, Yusuke ; Shiraishi, Yuichi ; Chiba, Kenichi ; Tanaka, Hiroko ; Miyano, Satoru ; Nakamura, Jun ; Kojima, Seiji ; Ogawa, Seishi ; Matsuo, Keitaro ; Takata, Minoru ; Yabe, MiharuBlood, 2013-10, Vol.122 (18), p.3206-3209 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated p53/p21 DNA Damage Response that Impairs Hematopoietic Stem and Progenitor CellsCeccaldi, Raphael ; Parmar, Kalindi ; Mouly, Enguerran ; Delord, Marc ; Kim, Jung Min ; Regairaz, Marie ; Pla, Marika ; Vasquez, Nadia ; Zhang, Qing-Shuo ; Pondarre, Corinne ; Peffault de Latour, Régis ; Gluckman, Eliane ; Cavazzana-Calvo, Marina ; Leblanc, Thierry ; Larghero, Jérôme ; Grompe, Markus ; Socié, Gérard ; D'Andrea, Alan D. ; Soulier, JeanCell stem cell, 2012-07, Vol.11 (1), p.36-49 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Focal Point of Fanconi Anemia SignalingZhan, Sudong ; Siu, Jolene ; Wang, Zhanwei ; Yu, Herbert ; Bezabeh, Tedros ; Deng, Youping ; Du, Wei ; Fei, PeiwenInternational journal of molecular sciences, 2021-11, Vol.22 (23), p.12976 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Metformin improves defective hematopoiesis and delays tumor formation in Fanconi anemia miceZhang, Qing-Shuo ; Tang, Weiliang ; Deater, Matthew ; Phan, Ngoc ; Marcogliese, Andrea N. ; Li, Hui ; Al-Dhalimy, Muhsen ; Major, Angela ; Olson, Susan ; Monnat, Raymond J. ; Grompe, MarkusBlood, 2016-12, Vol.128 (24), p.2774-2784 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCsLiu, Guang-Hui ; Suzuki, Keiichiro ; Li, Mo ; Qu, Jing ; Montserrat, Nuria ; Tarantino, Carolina ; Gu, Ying ; Yi, Fei ; Xu, Xiuling ; Zhang, Weiqi ; Ruiz, Sergio ; Plongthongkum, Nongluk ; Zhang, Kun ; Masuda, Shigeo ; Nivet, Emmanuel ; Tsunekawa, Yuji ; Soligalla, Rupa Devi ; Goebl, April ; Aizawa, Emi ; Kim, Na Young ; Kim, Jessica ; Dubova, Ilir ; Li, Ying ; Ren, Ruotong ; Benner, Chris ; Del Sol, Antonio ; Bueren, Juan ; Trujillo, Juan Pablo ; Surralles, Jordi ; Cappelli, Enrico ; Dufour, Carlo ; Esteban, Concepcion Rodriguez ; Belmonte, Juan Carlos IzpisuaNature communications, 2014-07, Vol.5 (1), p.4330-4330, Article 4330 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi AnemiaKashiyama, Kazuya ; Nakazawa, Yuka ; Pilz, Daniela T. ; Guo, Chaowan ; Shimada, Mayuko ; Sasaki, Kensaku ; Fawcett, Heather ; Wing, Jonathan F. ; Lewin, Susan O. ; Carr, Lucinda ; Li, Tao-Sheng ; Yoshiura, Koh-ichiro ; Utani, Atsushi ; Hirano, Akiyoshi ; Yamashita, Shunichi ; Greenblatt, Danielle ; Nardo, Tiziana ; Stefanini, Miria ; McGibbon, David ; Sarkany, Robert ; Fassihi, Hiva ; Takahashi, Yoshito ; Nagayama, Yuji ; Mitsutake, Norisato ; Lehmann, Alan R. ; Ogi, TomooAmerican journal of human genetics, 2013-05, Vol.92 (5), p.807-819 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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DNA Translocase FANCM/MHF Promotes Replication Traverse of DNA Interstrand CrosslinksHuang, Jing ; Liu, Shuo ; Bellani, Marina A ; Thazhathveetil, Arun Kalliat ; Ling, Chen ; de Winter, Johan P ; Wang, Yinsheng ; Wang, Weidong ; Seidman, Michael MMolecular cell, 2013-11, Vol.52 (3), p.434-446 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi AnemiaBogliolo, Massimo ; Schuster, Beatrice ; Stoepker, Chantal ; Derkunt, Burak ; Su, Yan ; Raams, Anja ; Trujillo, Juan P. ; Minguillón, Jordi ; Ramírez, María J. ; Pujol, Roser ; Casado, José A. ; Baños, Rocío ; Rio, Paula ; Knies, Kerstin ; Zúñiga, Sheila ; Benítez, Javier ; Bueren, Juan A. ; Jaspers, Nicolaas G.J. ; Schärer, Orlando D. ; de Winter, Johan P. ; Schindler, Detlev ; Surrallés, JordiAmerican journal of human genetics, 2013-05, Vol.92 (5), p.800-806 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |