Simone Cesaro: GNE-Related Thrombocytopenia – New Findings
Simone Cesaro, Director of Pediatric Hematology Oncology at the Integrated University Hospital of Verona (AOUI), shared a post on LinkedIn about a recent article he and his colleges co-authored, published in Journal of Thrombosis and Haemostasis, adding:
“In this report, the authors characterized 3 novel variants of the gene GNE, associated to cases of severe thrombocytopenia and demonstrated the pathogenicity of 2 variants of uncertain significance.
GNE gene encodes a key enzyme in sialic acid biosynthesis.
Severe thrombocytopenia GNE-related thrombocytopenia.”
Title: Characterization of a series of patients with GNE-related thrombocytopenia: insights into pathogenesis, diagnosis, and treatment
Authors: Serena Barozzi, Christian A. Di Buduo, Stefania Zampieri, Federica Isidori, Simone Frisari, Giuseppe Lassandro, Marco Lunghi, Alice Martinotti, Valeria Bozzi, Tommaso Mina, Simone Cesaro, Tommaso Pippucci, Paola Giordano, Alessandra Balduini, Alessandro Pecci
Stay updated on all scientific advances with Hemostasis Today.
-
Oct 28, 2026, 14:56Elizabeth Shirley: COVID-19 Vaccines, Spike Protein and Nitric Oxide Bioavailability
-
Oct 28, 2026, 14:39David Ledger: Anticoagulation Advances as Factor XIa Inhibition Reaches a New Milestone
-
Oct 28, 2026, 14:37Advancing Liver Health in Haemophilia Care – EAHAD
-
Oct 28, 2026, 14:34The Changing Landscape of Anticoagulant Therapy – ISTH
-
Oct 28, 2026, 14:17Clusterin Regulates von Willebrand Factor Multimer Stability Through ADAMTS13 Inhibition
-
Oct 28, 2026, 14:14Mina Jarrahi: Platelet-Rich Fibrin for Periodontal Regeneration
-
Oct 28, 2026, 14:06Mohammed Alo: A Stent Treats the Blockage, Not the Underlying Disease
-
Oct 28, 2026, 13:58Vladimir Lemaire: When Blood Clots Affect Elite Athletes
-
Oct 28, 2026, 13:27M. Alejandro Mosso-Pani: Dengue in Florida – Why Platelet Function Matters