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Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression 血小板特异性的SLFN14删除通过调节异常的巨核细胞和血小板基因表达导致巨血小板减少症和血小板功能障碍。 Stapley, Rachel J.; Sawkulycz, Xenia; Araujo, Gabriel H. M.; Englert, Maximilian; Garcia-Quintanilla, Lourdes; Smith, Sophie R. M.; Ahmed, Amna; Haining, Elizabeth J.; Kaur, Nayandeep; Bacon, Andrea; Pisarev, Andrey, V; Poulter, Natalie S.; Kavanagh, Dean; Thomas, Steven G.; Montague, Samantha J.; Rayes, Julie; Nagy, Zoltan; Morgan, Neil, V 分享 收藏
Structural and functional characterization of human SLFN14 人类SLFN14的结构与功能表征 Luo, Meng; Jia, Xudong; Wang, Zi-Wen; Yang, Jin- Yu; Wang, Wen; Chen, Jiazhen; Ou, Jun-Ying; Feng, Jian-Xiong; Yu, Bing; Wang, Sheng; Huang, Lin; Morgan, Neil, V; Deng, Kai; Chen, Tongsheng; Zhang, Qinfen; Gao, Song 分享 收藏
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Illustrated capsules from the Advanced Course in Platelet Research Buduo, Christian Andrea Di; Abbonante, Vittorio; Malara, Alessandro; Balduini, Alessandra; Waller, Amie K.; Watson, Steve P.; Martin, Eleyna M.; Bridge, Lloyd; Gibbins, Jonathan; Hers, Ingeborg; Masson, Claire; Eckly, Anita; Poulter, Natalie S.; Martinez-Garcia, Beatriz; Aguila, Sonia; Gresele, Paolo; Momi, Stefania; Amstrong, Paul; Rondina, Matthew; Troitino, Sara; Garcia, Angel; Bastida, Jose M.; Quilez, Ana Marin; Fuentes, Ana Sanchez; Rivera, Jose; Torres-Ruiz, Raul; Ojeda-Walczuk, Paula; Morgan, Neil, V; de la Morena, Belen; Ramaekers, Kato; Tran, My; De Wispelaere, Koen; Freson, Kathleen; Bergmeier, Wolfgang; Greinacher, Andreas; He, Fan; Oh, Stephen; Di Paola, Jorge; Semple, John W.; Lozano, Maria L.; Llamas, Pilar; Ward, Chris 分享 收藏
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome 新的Scott综合征患者中新的ANO6变体的综合功能表征 Montague, Samantha J.; Price, Joshua; Pennycott, Katherine; Pavey, Natasha J.; Martin, Eleyna M.; Thirlwell, Isaac; Kemble, Samuel; Monteiro, Catarina; Redmond-Motteram, Lily; Lawson, Natalie; Reynolds, Katherine; Fratter, Carl; Bignell, Patricia; Groenheide, Anouk; Huskens, Dana; de Laat, Bas; Pike, Jeremy A.; Poulter, Natalie S.; Thomas, Steven G.; Lowe, Gillian C.; Lancashire, Jonathan; Harrison, Paul; Morgan, Neil, V 分享 收藏
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework Ross, Justyne E.; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J.; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; Mcdougal, Dara; Botero, Juliana Perez; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I.; Megy, Karyn; Morange, Pierre -Emmanuel; Morgan, Neil, V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P. 分享 收藏
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41 Homan, Claire C.; Drazer, Michael W.; Yu, Kai; Lawrence, David M.; Feng, Jinghua; Arriola-Martinez, Luis; Pozsgai, Matthew J.; Mcneely, Kelsey E.; Ha, Thuong; Venugopal, Parvathy; Arts, Peer; King-Smith, Sarah L.; Cheah, Jesse; Armstrong, Mark; Wang, Paul; Bodor, Csaba; Cantor, Alan B.; Cazzola, Mario; Degelman, Erin; Dinardo, Courtney D.; Duployez, Nicolas; Favier, Remi; Froehling, Stefan; Rio-Machin, Ana; Klco, Jeffery M.; Kraemer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil, V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P.; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Kim, Erika; NISC Comparative Sequencing Program, Amy P.; Hsu, Amy P.; Holland, Steven M.; Phillips, Kerry; Poplawski, Nicola K.; Babic, Milena; Wei, Andrew H.; Forsyth, Cecily; Fan, Helen Mar; Lewis, Ian D.; Cooney, Julian; Susman, Rachel; Fox, Lucy C.; Blombery, Piers; Singhal, Deepak; Hiwase, Devendra; Phipson, Belinda; Schreiber, Andreas W.; Hahn, Christopher N.; Scott, Hamish S.; Liu, Paul; Godley, Lucy A.; Brown, Anna L. 分享 收藏
Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36 Barrachina, Maria N.; Pernes, Gerard; Becker, Isabelle C.; Allaeys, Isabelle; Hirsch, Thomas I.; Groeneveld, Dafna J.; Khan, Abdullah O.; Freire, Daniela; Guo, Karen; Carminita, Estelle; Morgan, Pooranee K.; Collins, Thomas J. C.; Mellett, Natalie A.; Wei, Zimu; Almazni, Ibrahim; Italiano, Joseph E.; Luyendyk, James; Meikle, Peter J.; Puder, Mark; Morgan, Neil V.; Boilard, Eric; Murphy, Andrew J.; Machlus, Kellie R. 分享 收藏
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis (vol 19, pg 2612, 2021) Megy, Karyn; Downes, Kate; Morel-Kopp, Marie-Christine; Bastida, Jose M.; Brooks, Shannon; Bury, Loredana; Leinoe, Eva; Gomez, Keith; Morgan, Neil, V; Othman, Maha; Ouwehand, Willem H.; Botero, Juliana Perez; Rivera, Jose; Schulze, Harald; Tregouet, David-Alexandre; Freson, Kathleen 分享 收藏
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A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger Bastida, Jose M.; Malvestiti, Stefano; Boeckelmann, Doris; Palma-Barqueros, Veronica; Wolter, Mira; Lozano, Maria L.; Glonnegger, Hannah; Benito, Rocio; Zaninetti, Carlo; Sobotta, Felix; Schilling, Freimut H.; Morgan, Neil, V; Freson, Kathleen; Rivera, Jose; Zieger, Barbara 分享 收藏
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding Stapley, Rachel J.; Poulter, Natalie S.; Khan, Abdullah O.; Smith, Christopher W.; Bignell, Patricia; Fratter, Carl; Lester, Will; Lowe, Gillian; Morgan, Neil, V 分享 收藏
Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes Lacey, Joanne; Webster, Simon J.; Heath, Paul R.; Hill, Chris J.; Nicholson-Goult, Lucinda; Wagner, Bart E.; Khan, Abdullah O.; Morgan, Neil, V; Makris, Michael; Daly, Martina E. 分享 收藏
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis Megy, Karyn; Downes, Kate; Morel-Kopp, Marie-Christine; Bastida, Jose M.; Brooks, Shannon; Bury, Loredana; Leinoe, Eva; Gomez, Keith; Morgan, Neil V.; Othman, Maha; Ouwehand, Willem H.; Perez Botero, Juliana; Rivera, Jose; Schulze, Harald; Tregouet, David-Alexandre; Freson, Kathleen 分享 收藏
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy Homan, Claire C.; King-Smith, Sarah L.; Lawrence, David M.; Arts, Peer; Feng, Jinghua; Andrews, James; Armstrong, Mark; Ha, Thuong; Dobbins, Julia; Drazer, Michael W.; Yu, Kai; Bodor, Csaba; Cantor, Alan; Cazzola, Mario; Degelman, Erin; DiNardo, Courtney D.; Duployez, Nicolas; Favier, Remi; Frohling, Stefan; Fitzgibbon, Jude; Klco, Jeffery M.; Kramer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil V.; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P.; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Liu, Paul; Godley, Lucy A.; Schreiber, Andreas W.; Hahn, Christopher N.; Scott, Hamish S.; Brown, Anna L. 分享 收藏
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL Morgan, Neil, V; Yngvadottir, Bryndis; O'Driscoll, Mary; Clark, Graeme R.; Walsh, Diana; Martin, Ezequiel; Tee, Louise; Reid, Evan; Titheradge, Hannah L.; Maher, Eamonn R. 分享 收藏
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