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Journal Articles

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Shengjiang Tan, Laëtitia Kermasson, Angela Hoslin, Pekka Jaako, Alexandre Faille, Abraham Acevedo-Arozena, Etienne Lengline, Dana Ranta, Maryline Poirée, Odile Fenneteau, Hubert Ducou le Pointe, Stefano Fumagalli, Blandine Beaupain, Patrick Nitschké, Christine Bôle-Feysot, Jean-Pierre de Villartay, Christine Bellanné-Chantelot, Jean Donadieu, Caroline Kannengiesser, Alan J. Warren, Patrick Revy
Journal: Blood
Blood (2019) 134 (3): 277–290.
https://doi.org/10.1182/blood.2018893404
Published: 2019
Includes: Supplemental data
Journal Articles

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

Inderjeet Dokal, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): SCI-22.
https://doi.org/10.1182/blood.V130.Suppl_1.SCI-22.SCI-22
Published: 2017
Journal Articles

Ribosome Biogenesis Controls Erythroid Differentiation Via a p53-Dependent Transcriptional Checkpoint and Its Limitation By RPS14 Haploinsufficiency Results in Selective Defects in Translation

Ismael Boussaid, PharmD, Salome Le Goff, PhDstudent, Celia Floquet, Post-doc, Anna Raimbault, PharmD, PhD, Charlotte Andrieu-Soler, Emilie-fleur Gautier, PhD, Olivier Kosmider, Isabelle Hatin, PhD, Mohandas Narla, DSc, Eric Soler, PhD, Patrick Mayeux, PhD, Michaela Fontenay, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 83.
https://doi.org/10.1182/blood.V130.Suppl_1.83.83
Published: 2017
Journal Articles

Attenuated Protein Synthesis Drives the Hematopoietic Defects in Shwachman-Diamond Syndrome

Pekka Jaako, PhD, Chi C Wong, PhD MD, David Adams, PhD, Alan J. Warren, PhD FRCP, FRCPath
Journal: Blood
Blood (2017) 130 (Supplement 1): 876.
https://doi.org/10.1182/blood.V130.Suppl_1.876.876
Published: 2017
Journal Articles

Translational pathophysiology: a novel molecular mechanism of human disease

Mario Cazzola, Radek C. Skoda
Journal: Blood
Blood (2000) 95 (11): 3280–3288.
https://doi.org/10.1182/blood.V95.11.3280
Published: 2000