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Platelets Volume 29, 2018 - Issue 1
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Short Communication

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

Emilse BermejoHematological Research Institute of the National Academy of Medicine of Buenos Aires, Hemostasis and Thrombosis Department, Buenos Aires, ArgentinaView further author information
,
Maria F. AlbertoHematological Research Institute of the National Academy of Medicine of Buenos Aires, Hemostasis and Thrombosis Department, Buenos Aires, ArgentinaView further author information
,
David S. PaulMcAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USAView further author information
,
Aaron A. CookDepartment of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USAView further author information
,
Paquita NurdenInstitut Hospitalo-Universitaire (IHU) LIRYC PTIB Hôpital Xavier Arnozan, Pessac, FranceView further author information
,
Analia Sanchez LucerosHematological Research Institute of the National Academy of Medicine of Buenos Aires, Hemostasis and Thrombosis Department, Buenos Aires, ArgentinaView further author information
,
Alan T. NurdenInstitut Hospitalo-Universitaire (IHU) LIRYC PTIB Hôpital Xavier Arnozan, Pessac, FranceORCID Iconhttp://orcid.org/0000-0002-7878-8307View further author information
ORCID Icon &
Wolfgang BergmeierMcAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA;Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USACorrespondence[email protected] [email protected]
ORCID Iconhttp://orcid.org/0000-0002-1211-8861View further author information
ORCID Icon show all
Pages 84-86 | Received 07 Apr 2017, Accepted 16 May 2017, Published online: 20 Jul 2017

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Essa Alharby, Mohammad A Bakhsh, Alia M Albalawi, Sultan O Almutairi, Jamil A Hashmi & Sulman Basit. (2020) A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder. Platelets 31:5, pages 646-651.
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Verónica Palma-Barqueros, Juan Ruiz-Pividal, Natalia Bohdan, Vicente Vicente, Jose Maria Bastida, María Lozano & José Rivera. (2019) RASGRP2 gene variations associated with platelet dysfunction and bleeding. Platelets 30:4, pages 535-539.
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Lucia Stefanini & Wolfgang Bergmeier. (2019) RAP GTPases and platelet integrin signaling. Platelets 30:1, pages 41-47.
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Articles from other publishers (14)

Fred G. Pluthero, Sarah K. Westbury & Walter H. A. Kahr. (2022) Inherited platelet disorders: From new variants to new knowledge. British Journal of Haematology 197:3, pages 245-246.
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Nikesh Kawankar, Shrimati Shetty & Bipin Kulkarni. (2022) Novel RASGRP2 variants in platelet function defects: Indian study . British Journal of Haematology 197:3, pages 377-380.
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Nurit Rosenberg, Rima Dardik, Hagit Hauschner, Sigal Nakav, Ortal Barel, Jacob Luboshitz, Joanne Yacobovich, Hannah Tamary & Gili Kenet. (2021) Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patients. Blood Cells, Molecules, and Diseases 89, pages 102560.
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Evelien G.G. Sprenkeler, Steven D.S. Webbers & Taco W. Kuijpers. (2021) When Actin is Not Actin’ Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders. Journal of Innate Immunity 13:1, pages 3-25.
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Muzaddid Sarker, Ardeshir Goliaei, Florence Golesi, Marjorie Poggi, Aaron A. Cook, Mohammad A.I. Khan, Brenda R. Temple, Lucia Stefanini, Matthias Canault, Wolfgang Bergmeier & Sharon L. Campbell. (2020) Subcellular localization of Rap1 GTPase activator CalDAG‐GEFI is orchestrated by interaction of its atypical C1 domain with membrane phosphoinositides. Journal of Thrombosis and Haemostasis 18:3, pages 693-705.
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Matthias Canault & Marie-Christine Alessi. (2020) RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. International Journal of Molecular Sciences 21:3, pages 1075.
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Robert H. Lee, Raymond PiattAnkita Dhenge, María L. Lozano, Verónica Palma-Barqueros, José Rivera & Wolfgang Bergmeier. (2019) Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications. Science Translational Medicine 11:522.
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Fred G. Pluthero & Walter H.A. Kahr. (2019) Recent advances in inherited platelet disorders. Current Opinion in Hematology 26:5, pages 313-319.
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Man-Chiu Poon. 2019. Platelets. Platelets 1121 1135 .
Marco Cattaneo. 2019. Platelets. Platelets 877 904 .
Robert H. Lee, Lucia Stefanini & Wolfgang Bergmeier. 2019. Platelets. Platelets 329 348 .
Lucia Stefanini, Robert H. Lee, David S. Paul, Ellen C. O'ShaughnessyDorsaf Ghalloussi, Christopher I. JonesYacine Boulaftali, Kathryn O. Poe, Raymond Piatt, Dan O. Kechele, Kathleen M. Caron, Klaus M. Hahn, Jonathan M. GibbinsWolfgang Bergmeier. (2018) Functional redundancy between RAP1 isoforms in murine platelet production and function. Blood 132:18, pages 1951-1962.
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Adrienne Lee & Man-Chiu Poon. (2018) Inherited platelet functional disorders: General principles and practical aspects of management. Transfusion and Apheresis Science 57:4, pages 494-501.
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Wolfgang Bergmeier & Lucia Stefanini. (2018) Platelets at the vascular interface. Research and Practice in Thrombosis and Haemostasis 2:1, pages 27-33.
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