Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis-Reference-Cited by-同舟云学术

Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis

Published:2015-02-05 Issue:6 Volume:125 Page:1006-1013
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Lecchi Anna¹,Razzari Cristina²,Paoletta Silvia³,Dupuis Arnaud⁴,Nakamura Lea⁵,Ohlmann Philippe⁴,Gachet Christian⁴,Jacobson Kenneth A.³,Zieger Barbara⁵,Cattaneo Marco²^ORCID

Affiliation:

1. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy;

2. Divisione di Medicina 3, Ospedale San Paolo, Dipartimento di Scienze della Salute - Università degli Studi di Milano, Milan, Italy;

3. Molecular Recognition Section, Laboratory of Bioorganic Chemistry, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD;

4. Unité Mixte de Recherche_S949, Inserm, Université de Strasbourg, Etablissement Français du Sang-Alsace, Strasbourg, France; and

5. Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany

Abstract

Key Points Two patients with bleeding diathesis had dysfunctional platelet P2Y12R for ADP, attributable to homozygous His187Gln mutation. These studies delineate a region of transmembrane 5 of P2Y12R that is required for normal function after ADP binding.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/6/1006/1386841/1006.pdf

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