A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow, Blood, vol.101, pp.4437-4445, 2003. ,
Rho GTPases in platelet function, J. Thromb. Haemost, vol.11, pp.35-46, 2013. ,
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III, J. Clin. Invest, vol.117, pp.1699-1707, 2007. ,
The small GTPase Rap1b regulates the cross talk between platelet integrin alpha2beta1 and integrin alphaIIb-beta3, Blood, vol.107, pp.2728-2735, 2006. ,
Relationships between Rap1b, affinity modulation of integrin alpha IIbbeta 3, and the actin cytoskeleton, J. Biol. Chem, vol.277, pp.25715-25721, 2002. ,
The structural basis of the activation of Ras by Sos, Nature, vol.394, pp.337-343, 1998. ,
Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets, Transl. Res, vol.150, pp.81-92, 2007. ,
Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic Simmental calf, Vet. Pathol, vol.44, pp.932-935, 2007. ,
,
Integrin-independent role of CalDAG-GEFI in neutrophil chemotaxis, J. Leukoc. Biol, vol.88, pp.313-319, 2010. ,
Rap1b is required for normal platelet function and hemostasis in mice, J. Clin. Invest, vol.115, pp.680-687, 2005. ,
CalDAG-GEFI and protein kinase C represent alternative pathways leading to activation of integrin alphaIIbbeta3 in platelets, Blood, vol.112, pp.1696-1703, 2008. ,
CalDAG-GEFI integrates signaling for platelet aggregation and thrombus formation, Nat. Med, vol.10, pp.982-986, 2004. ,
, Cells were then washed and cultured in serum-free medium supplemented with the human cytokines: TPO (100 ng/ml) and SCF (250 ng/ml) for 14 d. RASGRP2 mutation and platelet function | Canault et al
The small GTPase Rap1 is activated by turbulence and is involved in integrin [alpha]IIb[beta]3-mediated cell adhesion in human megakaryocytes, J. Biol. Chem, vol.278, pp.22412-22417, 2003. ,
Megakaryocytes derived from embryonic stem cells implicate CalDAG-GEFI in integrin signaling, Proc. Natl. Acad. Sci. USA, vol.99, pp.12819-12824, 2002. ,
Essential role for Rap1 GTPase and its guanine exchange factor CalDAG-GEFI in LFA-1 but not VLA-4 integrin mediated human T-cell adhesion, Blood, vol.110, pp.3682-3690, 2007. ,
Preferential sites for stationary adhesion of neutrophils to cytokine-stimulated HUVEC under flow conditions, J. Leukoc. Biol, vol.68, pp.47-57, 2000. ,
Thrombin generation, a function test of the haemostatic-thrombotic system, Thromb. Haemost, vol.96, pp.553-561, 2006. ,
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3, Thromb. Haemost, vol.103, pp.1053-1064, 2010. ,
A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia, Proc. Natl. Acad. Sci. USA, vol.95, pp.13278-13283, 1998. ,
Natural history and early diagnosis of LAD-1/variant syndrome, Blood, vol.109, pp.3529-3537, 2007. ,
LAD-1/variant syndrome is caused by mutations in FERMT3, Blood, vol.113, pp.4740-4746, 2009. ,
Genome Project Data Processing Subgroup. 2009. The Sequence Alignment/Map format and SAMtools, Bioinformatics, vol.25, pp.2078-2079, 1000. ,
A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans, Nat. Med, vol.15, pp.313-318, 2009. ,
Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro, Blood, vol.115, pp.4834-4842, 2010. ,
A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res, vol.16, p.1215, 1988. ,
Regulation of immune responses and hematopoiesis by the Rap1 signal, Adv. Immunol, vol.93, pp.229-264, 2007. ,
In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector, Science, vol.272, pp.263-267, 1996. ,
Advances in our understanding of the molecular basis of disorders of platelet function, J. Thromb. Haemost, vol.9, issue.1, pp.76-91, 2011. ,
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets, J. Exp. Med, vol.204, pp.1571-1582, 2007. ,
Specificity in Ras and Rap signaling, J. Biol. Chem, vol.284, pp.10995-10999, 2009. ,
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia, J. Clin. Invest, vol.114, pp.77-84, 2004. ,
Inhibition of platelet-mediated, tissue factor-induced thrombin generation by the mouse/human chimeric 7E3 antibody. Potential implications for the effect of c7E3 Fab treatment on acute thrombosis and "clinical restenosis, J. Clin. Invest, vol.98, pp.863-874, 1996. ,
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin-and nonintegrin-related defects in different steps of leukocyte adhesion, J. Immunol, vol.186, pp.5273-5283, 2011. ,
Rap1a activation by CalDAG-GEFI and p38 MAPK is involved in E-selectin-dependent slow leukocyte rolling, Eur. J. Immunol, vol.41, pp.2074-2085, 2011. ,
CalDAG-GEFI is at the nexus of calcium-dependent platelet activation, Blood, vol.114, pp.2506-2514, 2009. ,
Rap1-Rac1 circuits potentiate platelet activation, Arterioscler. Thromb. Vasc. Biol, vol.32, pp.434-441, 2012. ,
CalDAG-GEFI deficiency protects mice in a novel model of Fc? RIIA-mediated thrombosis and thrombocytopenia, Blood, vol.118, pp.1113-1120, 2011. ,
The kinetics of ?IIb?3 activation determines the size and stability of thrombi in mice: implications for antiplatelet therapy, Blood, vol.117, pp.1005-1013, 2011. ,
Regulation and Function of the RasGRP Family of Ras Activators in Blood Cells, Genes Cancer, vol.2, pp.320-334, 2011. ,
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation, Blood Cells Mol. Dis, vol.15, pp.53-61, 2009. ,
Key role of integrin ?(IIb)? (3) signaling to Syk kinase in tissue factor-induced thrombin generation, Cell. Mol. Life Sci, vol.69, pp.3481-3492, 2012. ,
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Res, vol.38, p.164, 2010. ,
Distinct roles for Rap1b protein in platelet secretion and integrin ?IIb?3 outside-in signaling, J. Biol. Chem, vol.286, pp.39466-39477, 2011. ,