未登录 Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease Hidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio 分享 收藏
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Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase Salipante, Stephen J.; Rojas, Meghan E. B.; Korkmaz, Brice; Duan, Zhijun; Wechsler, Jeremy; Benson, Kathleen F.; Person, Richard E.; Grimes, H. Leighton; Horwitz, Marshall S. 分享 收藏
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Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation Krutein, Michelle C.; Hart, Matthew R.; Anderson, Donovan J.; Jeffery, Jasmin; Kotini, Andriana G.; Dai, Jin; Chien, Sylvia; DelPriore, Michaela; Borst, Sara; Maguire, Jean Ann; French, Deborah L.; Gadue, Paul; Papapetrou, Eirini P.; Keel, Sioban B.; Becker, Pamela S.; Horwitz, Marshall S. 分享 收藏
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RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML RUNX1-mutated家族显示出表型异质性和种系易感AML特有的体细胞突变谱 Brown, Anna L.; Arts, Peer; Carmichael, Catherine L.; Babic, Milena; Dobbins, Julia; Chong, Chan-Eng; Schreiber, Andreas W.; Feng, Jinghua; Phillips, Kerry; Wang, Paul P. S.; Thuong Ha; Homan, Claire C.; King-Smith, Sarah L.; Rawlings, Lesley; Vakulin, Cassandra; Dubowsky, Andrew; Burdett, Jessica; Moore, Sarah; McKavanagh, Grace; Henry, Denae; Wells, Amanda; Mercorella, Belinda; Nicola, Mario; Suttle, Jeffrey; Wilkins, Ella; Li, Xiao-Chun; Michaud, Joelle; Brautigan, Peter; Cannon, Ping; Altree, Meryl; Jaensch, Louise; Fine, Miriam; Butcher, Carolyn; D'Andrea, Richard J.; Lewis, Ian D.; Hiwase, Devendra K.; Papaemmanuil, Elli; Horwitz, Marshall S.; Natsoulis, Georges; Rienhoff, Hugh Y., Jr.; Patton, Nigel; Mapp, Sally; Susman, Rachel; Morgan, Susan; Cooney, Julian; Currie, Mark; Popat, Uday; Bochtler, Tilmann; Izraeli, Shai; Bradstock, Kenneth; Godley, Lucy A.; Kraemer, Alwin; Froehling, Stefan; Wei, Andrew H.; Forsyth, Cecily; Fan, Helen Mar; Poplawski, Nicola K.; Hahn, Christopher N.; Scott, Hamish S. 分享 收藏
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Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases 组织蛋白酶C的长期药理学抑制导致中性粒细胞丝氨酸蛋白酶的消除 Guarino, Carla; Hamon, Yveline; Croix, Cecile; Lamort, Anne-Sophie; Dallet-Choisy, Sandrine; Marchand-Adam, Sylvain; Lesner, Adam; Baranek, Thomas; Viaud-Massuard, Marie-Claude; Lauritzen, Conni; Pedersen, John; Heuze-Vourc'h, Nathalie; Si-Tahar, Mustapha; Firatli, Erhan; Jenne, Dieter E.; Gauthier, Francis; Horwitz, Marshall S.; Borregaard, Niels; Korkmaz, Brice 分享 收藏
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Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells Nayak, Ramesh C.; Trump, Lisa R.; Aronow, Bruce J.; Myers, Kasiani; Mehta, Parinda; Kalfa, Theodosia; Wellendorf, Ashley M.; Valencia, C. Alexander; Paddison, Patrick J.; Horwitz, Marshall S.; Grimes, H. Leighton; Lutzko, Carolyn; Cancelas, Jose A. 分享 收藏
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia Hahn, C. N.; Brautigan, P. J.; Chong, C-E; Janssan, A.; Venugopal, P.; Lee, Y.; Tims, A. E.; Horwitz, M. S.; Klingler-Hoffmann, M.; Scott, H. S. 分享 收藏
Germ line ETV6 mutations in familial thrombocytopenia and hematologic malignancy 家族性血小板减少症和血液系统恶性肿瘤中的生殖系ETV6突变 Zhang, Michael Y.; Churpek, Jane E.; Keel, Sioban B.; Walsh, Tom; Lee, Ming K.; Loeb, Keith R.; Gulsuner, Suleyman; Pritchard, Colin C.; Sanchez-Bonilla, Marilyn; Delrow, Jeffrey J.; Basom, Ryan S.; Forouhar, Melissa; Gyurkocza, Boglarka; Schwartz, Bradford S.; Neistadt, Barbara; Marquez, Rafael; Mariani, Christopher J.; Coats, Scott A.; Hofmann, Inga; Lindsley, R. Coleman; Williams, David A.; Abkowitz, Janis L.; Horwitz, Marshall S.; King, Mary-Claire; Godley, Lucy A.; Shimamura, Akiko 分享 收藏
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