Identification of Hepatic-like EPO as a Cause of Polycythemia

We found that secondary erythrocytosis can be related to variants in <i>EPO</i> that lead to the production of hepatic-like EPO with an atypical glycosylation pattern and increased activity. (Funded by Région des Pays de la Loire and others; ClinicalTrials.gov number, NCT03957863.).

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Publication Details

Journal
New England Journal of Medicine
Published
2025-05-01
DOI
https://doi.org/10.1056/nejmoa2414954
Citations
11
Primary Topic
Myeloproliferative Neoplasms: Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
17.88

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article

Identification of Hepatic-like EPO as a Cause of Polycythemia

Isabelle Plo, Lucie Erceau, Corinne Guitton, Chloé James et al.
11 citations
New England Journal of Medicine
Myeloproliferative Neoplasms: Diagnosis and Treatment
17.88
article

Identification of Hepatic-like EPO as a Cause of Polycythemia

Isabelle Plo, Lucie Erceau, Corinne Guitton, Chloé James, Karim Si‐Tayeb, Alexandre Marchand, Frédéric Galactéros, Marine Delamare, Nada Maaziz, Amandine Caillaud, Bernard Aral, François Girodon, Fabrice Airaud, Erwan Mortier, Marlène Pasquet, Anne Gaignerie, Christine Bellanné‐Chantelot, Salam Idriss, Richard Redon, Viviane Dubruille, Holger Cario, Florence Robriquet, Agnès Quéméner, Darko Maric, Radek C. Skoda, Laurent Martin, Anders Waage, Pierre Cougoul, Claude Gardin, Vincent Antunes, Zühre Kaya, Marion Lenglet, Sarah Mathilda Vincent, Vannina Giacobbi-Milet, Denis S. Semama, Fabien Laporte, Mike Maillasson, Anna Keppner, Lamisse Mansour‐Hendili, Serge Carillo, Céline Garrec, Amandine Le Roy, David Hoogewijs, Stéphane Bezieau, Laurent David, Nina Modé, Yaël Zermati, Thierry Leblanc, Isabelle Leray, Thibault Maillet, Anne-Marie Nloga, Marlène Ochmann, Caroline Chariau, Betty Gardie, Clara Gianfermi, Alexis Desfontaine, Coline Rogue
article en
11 citations

Abstract

We found that secondary erythrocytosis can be related to variants in <i>EPO</i> that lead to the production of hepatic-like EPO with an atypical glycosylation pattern and increased activity. (Funded by Région des Pays de la Loire and others; ClinicalTrials.gov number, NCT03957863.).

New England Journal of MedicineVol. 392(17)
Centre National de la Recherche Scientifique (FR), University of Fribourg (CH), Inserm (FR), École Pratique des Hautes Études (FR), Université de Bourgogne (FR), Université Fédérale de Toulouse Midi-Pyrénées (FR), Baylor College of Medicine (US), Universität Ulm (DE), Université Paris-Est Créteil (FR), Université Paris Cité (FR), Norwegian University of Science and Technology (NO), Université Paris-Saclay (FR), Institut Gustave Roussy (FR), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire de Nantes (FR), Sorbonne Université (FR), German Center for Pediatric and Adolescent Rheumatology (DE), Centre de Recherches en Cancérologie de Toulouse (FR), Université Sorbonne Paris Nord (FR), Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes Angers (FR), Laboratory of Excellence GR-Ex (FR), Assistance Publique – Hôpitaux de Paris (FR), St Olav's University Hospital (NO), CHU Dijon Bourgogne (FR), Intergroupe Francophone du Myélome (FR), Centre Hospitalier du Mans (FR), Hôpital Robert-Debré (FR), Hôpital Avicenne (FR), Hôpitaux Universitaires Henri-Mondor (FR), Centre de Recherche Saint-Antoine (FR), Institut du Thorax (FR), Centre hospitalier universitaire d'Orléans (FR), Génétique Médicale & Génomique Fonctionelle (FR), Bicêtre Hospital (FR), Center for Research in Transplantation and Translational Immunology, Gazi University (TR), Nantes Université (FR)
VHL Alliance, Agence Nationale de la Recherche, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Conseil Régional des Pays de la Loire, European Regional Development Fund, Swiss National Centre of Competence in Research Kidney Control of Homeostasis, H2020 Marie Skłodowska-Curie Actions
Zero hunger
Openalex Percentile: Top 1%
Myeloproliferative Neoplasms: Diagnosis and Treatment
17.88
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