Action Publications
Action publications are research outputs that have been produced with the direct support of a COST Action. They explicitly acknowledge the Action, either through funding, collaboration, or infrastructure, and demonstrate the scientific impact generated by the network. These publications serve as a record of the Action’s contributions to advancing knowledge, fostering innovation, and strengthening European and international research collaboration.
Members’ Publications
Members’ publications are works authored by scientists who participate in the Action, but which may not directly acknowledge or have been funded by the Action. They reflect the broader scientific productivity and expertise of the network’s participants, highlighting the depth of knowledge and diversity of research interests that members bring into the Action community.
Members’ publications
- Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells. Cipolli M, Boni C, Penzo M, Villa I, Bolamperti S, Baldisseri E, Frattini A, Porta G, Api M, Selicato N, Roccia P, Pollutri D, Marinelli Busilacchi E, Poloni A, Caporelli N, D’Amico G, Pegoraro A, Cesaro S, Oyarbide U, Vella A, Lippi G, Corey SJ, Valli R, Polini A, Bezzerri V. Br J Haematol. 2024 Jan;204(1):292-305. doi: 10.1111/bjh.19134.
- Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Grünert SC, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, Corpeleijn W, Çıki K, Cotter M, Crushell E, Derks TGJ, Haas D, Kilavuz S, Kingma SDK, Korman SH, Kozek A, de Laet C, Mundy H, Nassogne MC, Quintero V, Rossi A, Spenger J, Spiegel R, Stephenne X, Stojkov D, Tal G, Veiga-da Cunha M, Wortmann SB.Mol Genet Metab. 2024 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Epub 2024 Apr 27.PMID: 38733639 - . 2023 Jan;200(1):79-86. doi: 10.1111/bjh.18477.
- Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome. Bezzerri V, Lentini L, Api M, Busilacchi EM, Cavalieri V, Pomilio A, Diomede F, Pegoraro A, Cesaro S, Poloni A, Pace A, Trubiani O, Lippi G, Pibiri I, Cipolli M. Biomedicines. 2022 Apr 12;10(4):886. doi: 10.3390/biomedicines10040886.
- eIF6 rebinding dynamically couples ribosome maturation and translation
Pekka Jaako, Alexandre Faille, Shengjiang Tan, Chi C. Wong, Norberto Escudero-Urquijo, Pablo Castro-Hartmann, Penny Wright, Christine Hilcenko, David J. Adams, Alan J. Warren. bioRxiv 2021.09.06.459071; doi: https://doi.org/10.1101/2021.09.06.459071 - A zebrafish model for HAX1-associated congenital neutropenia. Doll L, Aghaallaei N, Dick AM, Welte K, Skokowa J, Bajoghli B. Haematologica. 2021 May 1;106(5):1311-1320. doi: 10.3324/haematol.2019.240200. PMID: 32327498; PMCID: PMC8094079.
- PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations. Olofsen PA, Bosch DA, Roovers O. Blood Adv. 2021;5(3):775-786. doi:10.1182/bloodadvances.2020003214
- NAMPT/SIRT2-mediated inhibition of the p53-p21 signaling pathway is indispensable for maintenance and hematopoietic differentiation of human iPS cells. Xu, Y., Nasri, M., Dannenmann, B., Mir, P., Zahabi, A., Welte, K., Morishima, T., & Skokowa, J. (2021). Stem cell research & therapy, 12(1), 112. https://doi.org/10.1186/s13287-021-02144-9
- Secondary CNL after SAA reveals insights in leukemic transformation of bone marrow failure syndromes. Schmied, L., Olofsen, P. A., Lundberg, P., Tzankov, A., Kleber, M., Halter, J., Uhr, M., Valk, P., Touw, I. P., Passweg, J., & Drexler, B. (2020). Blood advances, 4(21), 5540–5546. https://doi.org/10.1182/bloodadvances.2020001541
- RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia. Olofsen, P. A., & Touw, I. P. (2020). Molecules and cells, 43(2), 139–144. https://doi.org/10.14348/molcells.2020.0010
- CRISPR/Cas9 Genome Editing of Human-Induced Pluripotent Stem Cells Followed by Granulocytic Differentiation. Dannenmann, B., Nasri, M., Welte, K., & Skokowa, J. (2020). Methods in molecular biology (Clifton, N.J.), 2115, 471–483. https://doi.org/10.1007/978-1-0716-0290-4_27
- Modeling severe congenital neutropenia in induced pluripotent stem cells. Olofsen PA, Touw IP. In: Birbrair A, ed. Recent Advances in iPSC Disease Modeling, vol. 1. Chapter 5. Waltham, MA: Academic Press; 2020:85-101
- Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study
Rotulo, G.A., Plat, G., Beaupain, B., Blanche, S., Moushous, D., Sicre de Fontbrune, F., Leblanc, T., Renard, C., Barlogis, V., Vigue, M.-G., Freycon, C., Piguet, C., Pasquet, M., Fieschi, C., Abou-Chahla, W., Gandemer, V., Rialland, F., Millot, F., Marie-Cardine, A., Paillard, C., Levy, P., Aladjidi, N., Biosse-Duplan, M., Bellanné-Chantelot, C., Donadieu, J. and (2021), Br J Haematol. https://doi.org/10.1111/bjh.17695 - Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia.
Patricia A. Olofsen, Szabolcs Fatrai, Paulina M.H. van Strien, Julia C. Obenauer, Hans W.J. de Looper, Remco M. Hoogenboezem, Claudia A.J. Erpelinck-Verschueren, Michael P.W.M. Vermeulen, Onno Roovers, Torsten Haferlach, Joop H. Jansen, Mehrnaz Ghazvini, Eric M.J. Bindels, Rebekka K. Schneider, Emma M. de Pater, and Ivo P. Touw, Cell Reports Medicine Volume 1, Issue 5, 100074, August 25, 2020. https://doi.org/10.1016/j.xcrm.2020.100074 - Complement and tissue factor-enriched neutrophil extracellular traps are key drivers in COVID-19 immunothrombosis
Panagiotis Skendros, Alexandros Mitsios, Akrivi Chrysanthopoulou, Dimitrios C Mastellos, Simeon Metallidis, Petros Rafailidis, Maria Ntinopoulou, Eleni Sertaridou, Victoria Tsironidou, Christina Tsigalou, Maria G Tektonidou, Theocharis Konstantinidis, Charalampos Papagoras, Ioannis Mitroulis, Georgios Germanidis, John D Lambris, Konstantinos Ritis, J Clin Invest. 2020 Aug 6;141374. doi: 10.1172/JCI141374. Online ahead of print. (PubMed) - Circumventing Mutation to Nix Neutropenia
Skokowa J. N Engl J Med. 2021 May 20;384(20):1956-1958. doi: 10.1056/NEJMcibr2102952. PMID: 34010536