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RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology

1
Aix Marseille University, INSERM, INRAE, C2VN, 13005 Marseille, France
2
Hematology laboratory, APHM, CHU Timone, 13005 Marseille, France
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(3), 1075; https://doi.org/10.3390/ijms21031075
Received: 18 December 2019 / Revised: 31 January 2020 / Accepted: 3 February 2020 / Published: 6 February 2020
(This article belongs to the Special Issue Molecular Research on Platelet Activity in Health and Disease)
RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in “inside-out” αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by variants of RASGRP2 represents a new congenital bleeding disorder referred to as platelet-type bleeding disorder-18 (BDPLT18). We review here the structure of RasGRP2 and its functions in the pathophysiology of platelets and of the other cellular types that express it. We will also examine the different pathogenic variants reported so far as well as strategies for the diagnosis and management of patients with BDPLT18. View Full-Text
Keywords: platelet; RasGRP2; inherited platelet disorder platelet; RasGRP2; inherited platelet disorder
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MDPI and ACS Style

Canault, M.; Alessi, M.-C. RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. Int. J. Mol. Sci. 2020, 21, 1075. https://doi.org/10.3390/ijms21031075

AMA Style

Canault M, Alessi M-C. RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. International Journal of Molecular Sciences. 2020; 21(3):1075. https://doi.org/10.3390/ijms21031075

Chicago/Turabian Style

Canault, Matthias, and Marie-Christine Alessi. 2020. "RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology" International Journal of Molecular Sciences 21, no. 3: 1075. https://doi.org/10.3390/ijms21031075

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