Publicaciones (182) Publicaciones de Jose Rivera Pozo

2024

  1. Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia

    Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 4, pp. 1179-1186

  2. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders

    Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859

2023

  1. Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617] (Journal of Thrombosis and Haemostasis (2021) 19(10) (2612–2617), (S1538783622021559), (10.1111/jth.15459))

    Journal of Thrombosis and Haemostasis

  2. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

    Platelets, Vol. 34, Núm. 1

  3. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation

    International journal of molecular sciences, Vol. 24, Núm. 6

  4. Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

    Molecular Therapy - Nucleic Acids, Vol. 33, pp. 75-92

  5. Multicenter evaluation of light transmission platelet aggregation reagents: communication from the ISTH SSC Subcommittee on Platelet Physiology

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 9, pp. 2596-2610

  6. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

    Blood, Vol. 141, Núm. 4, pp. 406-421

  7. Platelet transcriptome analysis in patients with germline RUNX1 mutations

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365

  8. Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 4, pp. 1010-1019

2022

  1. A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

    Cells, Vol. 11, Núm. 20

  2. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

    Journal of Thrombosis and Haemostasis, Vol. 20, Núm. 5, pp. 1248-1255

  3. Editorial

    Platelets

  4. Frozen and cold-stored platelets: reconsidered platelet products

    Platelets, Vol. 33, Núm. 1, pp. 27-34

  5. Introduction of an ancient founder glycoprotein VI mutation into the Chilean population

    Blood Advances

  6. Plasmapheresis and Plasma Donation: Challenges in the Blood/Plasma Supply Chain

    Plasmatology, Vol. 16

  7. Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease

    Blood Advances, Vol. 6, Núm. 17, pp. 5244-5255

2021

  1. ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

    Platelets, Vol. 32, Núm. 4, pp. 573-577

  2. PTGS1 gene variations associated with bleeding and platelet dysfunction

    Platelets, Vol. 32, Núm. 5, pp. 710-716

  3. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis

    American Journal of Hematology