Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction-Reference-Cited by-同舟云学术

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

Published:2016-09-01 Issue:9 Volume:128 Page:1282-1289
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Lozano María Luisa¹,Cook Aaron²,Bastida José María³,Paul David S.⁴,Iruin Gemma⁵,Cid Ana Rosa⁶,Adan-Pedroso Rosa⁵,Ramón González-Porras José³,Hernández-Rivas Jesús María³,Fletcher Sarah J.⁷,Johnson Ben⁷,Morgan Neil⁷,Ferrer-Marin Francisca¹,Vicente Vicente¹,Sondek John⁸,Watson Steve P.⁷,Bergmeier Wolfgang²⁴,Rivera José¹^ORCID

Affiliation:

1. Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigaciones Biomédicas–Arrixaca, Murcia, Spain;

2. Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC;

3. Department of Hematology, Instituto de Investigación Biomédica de Salamanca–Hospital Universitario de Salamanca, Salamanca, Spain;

4. McAllister Heart Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC;

5. Servicios de Hematología, Pediatría y Oncología Infantil, Hospital de Cruces, Bilbao, Spain;

6. Unidad de Hemostasia y Trombosis, Servicio de Hematología y Hemostasia, Hospital Universitario Politécnico de la Fe, Valencia, Spain;

7. Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; and

8. Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC

Abstract

Key Points New function-disrupting mutations in CalDAG-GEFI, p.S381F and p.R113X, were identified in 2 unrelated families of distinct ethnic origin. Homozygous carriers of these mutations displayed relevant bleeding diathesis and moderate impairment and/or delay in platelet aggregation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/128/9/1282/1399159/1282.pdf

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