Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleeding.
Westbury, Sarah K; Canault, Matthias; Greene, Daniel; Bermejo, Emilse; Hanlon, Katharine; Lambert, Michele P; Millar, Carolyn M; Nurden, Paquita; Obaji, Samya G; Revel-Vilk, Shoshana; Van Geet, Chris; Downes, Kate; Papadia, Sofia; Tuna, Salih; Watt, Christopher; Freson, Kathleen; Laffan, Michael A; Ouwehand, Willem H; Alessi, Marie-Christine; Turro, Ernest; Mumford, Andrew D.
; 130(8): 1026-1030, 2017 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-28637664
RASGRP2 gene variations associated with platelet dysfunction and bleeding.
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.
Human CalDAG-GEFI deficiency increases bleeding and delays αIIbß3 activation.
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Mice Expressing Low Levels of CalDAG-GEFI Exhibit Markedly Impaired Platelet Activation With Minor Impact on Hemostasis.
Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets.
Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.
Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.