Highlighting Novel Mechanisms SwaYing ErythroPOietin EXpressIon and RegulAtion

Project Information

HYPOXIA

Grant agreement ID: 101067746

DOI

10.3030/101067746

Project closed

EC signature date 2 August 2022

Start date 3 February 2023

End date 2 June 2025

Funded under

• Marie Skłodowska-Curie Actions (MSCA)

Total cost

No data

EU contribution

€ 211 754,88

Coordinated by

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France

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Publications

Peer reviewed articles (4)

Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis

Author(s): Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valéna Karaghiannis, Bernard Aral, Mark Catherwood, Fabrice Airaud, Lamisse Mansour-Hendili, David Hoogewijs, Edoardo Peroni, Salam Idriss, Valentine Lesieur, Amandine Caillaud, Karim Si-Tayeb, Caroline Chariau, Anne Gaignerie, Minke Rab, Torsten Haferlach, Manja Meggendorfer, Stéphane Bézieau, Andrea Benetti, Nicole Casadevall, Pierre Hirsch, Christian Rose, Mathieu Wemeau, Frédéric Galacteros, Bruno Cassinat, Beatriz Bellosillo, Celeste Bento, Richard Van Wijk, Petro E. Petrides, Maria Luigia Randi, Mary Frances McMullin, Peppi Koivunen, François Girodon, Betty Gardie, ECYT Consortium
Published in: Haematologica, Issue 108, 2023, ISSN 1592-8721
Publisher: Ferrata Storti Foundation (Haematologica)
DOI: 10.3324/HAEMATOL.2023.282913

FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells

Author(s): Amandine Caillaud, Antoine Lévêque, Aurélie Thédrez, Aurore Girardeau, Robin Canac, Lise Bray, Manon Baudic, Julien Barc, Nathalie Gaborit, Guillaume Lamirault, Betty Gardie, Salam Idriss, Antoine Rimbert, Cédric Le May, Bertrand Cariou, Karim Si-Tayeb
Published in: STAR Protocols, Issue 3, 2024, ISSN 2666-1667
Publisher: Elsevier BV
DOI: 10.1016/J.XPRO.2022.101680

Unraveling the impact of VHL Exon 2 mutations causing Erythrocytosis or von Hippel-Lindau disease identified new RNA-Binding Proteins involved in VHL splicing.

Author(s): V. Karaghiannis, L. Schmitt, F. Chesnel, E. Gautier, M. Leduc, M. Le Gall, S. Idriss, S. Couvé, A. Barlier, G. Sarrabay, N. Maaziz, B. Cassinat, L. Legros, V. Thibaud, S. Richard, F. Girodon, J. Miro, S. Tuffery-Giraud, Y. Arlot, B. Gardie.
Published in: American Journal of Human Genetics, 2025, ISSN 1537-6605
Publisher: In press
DOI: 10.1182/blood-2018-03-838235

Identification of Hepatic-like EPO as a Cause of Polycythemia

Author(s): Laurent Martin, Darko Maric, Salam Idriss, Marine Delamare, Amandine Le Roy, Nada Maaziz, Amandine Caillaud, Karim Si-Tayeb, Florence Robriquet, Marion Lenglet, Lucie Erceau, Christine Bellanné-Chantelot, Isabelle Plo, Bernard Aral, Céline Garrec, Fabrice Airaud, Clara Gianfermi, Vincent Antunes, Anna Keppner, Sarah Mathilda Vincent, Alexis Desfontaine, Nina Modé, Fabien Laporte, Anne Gaignerie, Caroline Chariau, Isabelle Leray, Coline Rogue, Laurent David, Richard Redon, Stéphane Bézieau, Lamisse Mansour-Hendili, Frédéric Galactéros, Thibault Maillet, Marlène Pasquet, Pierre Cougoul, Anne-Marie Nloga, Claude Gardin, Corinne Guitton, Viviane Dubruille, Vannina Giacobbi-Milet, Thierry Leblanc, Zuhre Kaya, Denis Semama, Chloé James, Serge Carillo, Marlène Ochmann, Anders Waage, Erwan Mortier, Mike Maillasson, Agnès Quéméner, Holger Cario, Radek C. Skoda, Yaël Zermati, David Hoogewijs, Alexandre Marchand, François Girodon, Betty Gardie
Published in: New England Journal of Medicine, Issue 392, 2025, ISSN 0028-4793
Publisher: Massachusetts Medical Society
DOI: 10.1056/NEJMOA2414954

Conference proceedings (1)

Identification of Hepatic-like Erythropoietin with Enhanced Activity As a New Cause of Hereditary and Acquired Erythrocytosis

Published in: 2024
Publisher: American Society of Hematology