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Pierre-Emmanuel Gleizes
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Journal Articles

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Marie-Françoise O’Donohue, Lydie Da Costa, Marco Lezzerini, Sule Unal, Clément Joret, Marije Bartels, Eva Brilstra, Marijn Scheijde-Vermeulen, Ludivine Wacheul, Kim De Keersmaecker, Stijn Vereecke, Veerle Labarque, Manon Saby, Sophie D. Lefevre, Jessica Platon, Nathalie Montel-Lehry, Nathalie Laugero, Eric Lacazette, Koen van Gassen, Riekelt H. Houtkooper, Pelin Ozlem Simsek-Kiper, Thierry Leblanc, Nese Yarali, Arda Cetinkaya, Nurten A. Akarsu, Pierre-Emmanuel Gleizes, Denis L. J. Lafontaine, Alyson W. MacInnes
Journal: Blood
Blood (2022) 139 (21): 3111–3126.
https://doi.org/10.1182/blood.2021011846
Published: 2022
Includes: Supplemental data
Journal Articles

p53 activation during ribosome biogenesis regulates normal erythroid differentiation

Salomé Le Goff, Ismael Boussaid, Celia Floquet, Anna Raimbault, Isabelle Hatin, Charlotte Andrieu-Soler, Mohammad Salma, Marjorie Leduc, Emilie-Fleur Gautier, Boris Guyot, Diane d’Allard, Nathalie Montel-Lehry, Sarah Ducamp, Amandine Houvert, François Guillonneau, Stéphane Giraudier, Elisabeth Cramer-Bordé, François Morlé, Jean-Jacques Diaz, Olivier Hermine, Naomi Taylor, Sandrina Kinet, Frédérique Verdier, Rose-Ann Padua, Narla Mohandas, Pierre-Emmanuel Gleizes, Eric Soler, Patrick Mayeux, Michaela Fontenay
Journal: Blood
Blood (2021) 137 (1): 89–102.
https://doi.org/10.1182/blood.2019003439
Published: 2021
Includes: Supplemental data
Journal Articles

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia

Adeline Mayeux, Nathalie Montel-Lehry, Manon Saby, Aurore Anton, Narjesse Karboul, Julie Galimand, Helene Bourdeau, Jonathan Levy, Anne-claude Tabet, Mohandas Narla, DSc, Alyson W. MacInnes, Pascale Dufourcq, Patrick Blader, Thierry Leblanc, Marie-francoise O' Donohue, Pierre-Emmanuel Gleizes, Lydie Da Costa
Journal: Blood
Blood (2018) 132 (Supplement 1): 1299.
https://doi.org/10.1182/blood-2018-99-110663
Published: 2018
Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Enikoe Amina Szvetnik, Christian Klemann, Ina Hainmann, Marie-Francoise O'-Donohue, Tamás Farkas, Marena Niewisch, Regine Grosse, MD, Gabriele Escherich, MD, Sule Unal, Naz Guleray, Muge Gokce, Lydie Da Costa, Thierry LeBlanc, MD, Hélène Dollfus, Eusebia Lara-Villacanas, Thomas Wiesel, Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Doris Steinemann, PhD, Myriam Lorenz, Klaus Schwarz, Stephan Ehl, Michael Hershfield, Pierre-Emmanuel Gleizes, Charlotte M. Niemeyer, MD, Alyson W. MacInnes, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 874.
https://doi.org/10.1182/blood.V130.Suppl_1.874.874
Published: 2017
Journal Articles

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Marcin W. Wlodarski, MD PhD, Lydie M. Da Costa, MD PhD, Marie-Francoise O'-Donohue, Marc Gastou, Ina Hainmann, Enikoe Amina Szvetnik, Thierry Leblanc, MD, Marc Bierings, MD PhD, Nathalie Montel-Lehry, Hannah Tamary, MD, Charlotte M. Niemeyer, MD, Pierre-Emmanuel Gleizes, Alyson W. MacInnes
Journal: Blood
Blood (2017) 130 (Supplement 1): 1172.
https://doi.org/10.1182/blood.V130.Suppl_1.1172.1172
Published: 2017
Journal Articles

Ribosomal Protein Genes S10 and S26 Are Commonly Mutated in Diamond-Blackfan Anemia.

Hanna T. Gazda, Mee Rie Sheen, Leana Doherty, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O'Donohue, Hal E. Schneider, Catherine Clinton, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs
Journal: Blood
Blood (2009) 114 (22): 175.
https://doi.org/10.1182/blood.V114.22.175.175
Published: 2009
Journal Articles

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O’Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah Ball, Edyta Niewiadomska, Michal Matysiak, Jan M. Zaucha, Bertil Glader, Charlotte Niemeyer, Joerg J. Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs
Journal: Blood
Blood (2008) 112 (11): 39.
https://doi.org/10.1182/blood.V112.11.39.39
Published: 2008
Journal Articles

Impaired ribosome biogenesis in Diamond-Blackfan anemia

Valérie Choesmel, Daniel Bacqueville, Jacques Rouquette, Jacqueline Noaillac-Depeyre, Sébastien Fribourg, Aurore Crétien, Thierry Leblanc, Gil Tchernia, Lydie Da Costa, Pierre-Emmanuel Gleizes
Journal: Blood
Blood (2006) 109 (3): 1275–1283.
https://doi.org/10.1182/blood-2006-07-038372
Published: 2006
Includes: Supplemental data