A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis
Am J Hematol. 2021 Mar 1;96(3):E83-E88.
doi: 10.1002/ajh.26076.
Epub 2021 Jan 5.
1 Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Murcia, Spain.
2 Centre for Immunobiology, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University London, London, UK.
3 The National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, USA.
4 Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT)/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), Madrid, Spain.
5 Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
6 National Institutes of Health, National Institute of Environmental Health Sciences, Research Triangle Park, Durham, North Carolina, USA.
7 IBSAL, IBMCC, CIC, Universidad de Salamanca-CSIC, Salamanca, Spain.
8 Servicio de Hematología, Hospital San Pedro de Alcántara, Complejo Universitario de Cáceres, Cáceres, Spain.
9 Servicio de Hematología y Hemoterapia, Hospital Virgen de la Salud, Complejo Hospitalario de Toledo, Toledo, Spain.
10 Departamento de Hematología, Hospital Universitario de Salamanca, Salamanca-IBSAL, Salamaca, Spain.
11 On behalf of the "Grupo Español de Alteraciones Plquetarias Congénitas, (GEAPC)"; Hemorrhagic Diathesis Working Group, SETH, Madrid, Spain.