Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

In addition to mutations in ITG2B or ITGB3 genes that cause defective α(IIb)β(3) expression and/or function in Glanzmann’s thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out activation of α(IIb)β(3). The RASGRP2 gene is strongly e...

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Detalles Bibliográficos
Publicado en:Blood
Main Authors: Lozano, María Luisa, Cook, Aaron, Bastida, José María, Paul, David S., Iruin, Gemma, Cid, Ana Rosa, Adan-Pedroso, Rosa, Ramón González-Porras, José, Hernández-Rivas, Jesús María, Fletcher, Sarah J., Johnson, Ben, Morgan, Neil, Ferrer-Marin, Francisca, Vicente, Vicente, Sondek, John, Watson, Steve P., Bergmeier, Wolfgang, Rivera, José
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Hematology 2016
Assuntos:
Platelets and Thrombopoiesis
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5009515/
https://ncbi.nlm.nih.gov/pubmed/27235135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-11-683102
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