Impaired ribosome biogenesis in Diamond-Blackfan anemia von Choesmel, Valérie, Bacqueville, Daniel, Rouquette, Jacques, Noaillac-Depeyre, Jacqueline, Fribourg, Sébastien, Crétien, Aurore, Leblanc, Thierry, Tchernia, Gil, Da Costa, Lydie, Gleizes, Pierre-Emmanuel

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Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia von Cretien, Aurore, Hurtaud, Corinne, Moniz, Helene, Proust, Alexis, Marie, Isabelle, Wagner-Ballon, Orianne, Choesmel, Valerie, Gleizes, Pierre-Emmanuel, Leblanc, Thierry, Delaunay, Jean, Tchernia, Gil, Mohandas, Narla, Da Costa, Lydie

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Genetic variants in the noncoding region of RPS19 gene in Diamond‐Blackfan anemia: Potential implications for phenotypic heterogeneity von Crétien, Aurore, Proust, Alexis, Delaunay, Jean, Rincé, Patricia, Leblanc, Thierry, Ducrocq, Rolande, Simansour, Maud, Marie, Isabelle, Tamary, Hannah, Meerpohl, Jörg, Niemeyer, Charlotte, Gazda, Hanna, Sieff, Colin, Ball, Sarah, Tchernia, Gil, Mohandas, Narla, Da Costa, Lydie

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Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies von Grootenboer-Mignot, Sabine, Crétien, Aurore, Laurendeau, Ingrid, Poissonnier, Marie-Hélène, Doireau, Valérie, Brossard, Yves, Tchernia, Gil, Cynober, Thérèse, Delaunay, Jean

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Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 von Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, Eidelitz-Markus, Tal, Kapelushnik, Joseph, Cattan, Daniel, Pariente, Alexandre, Tulliez, Michel, Crétien, Aurore, Schischmanoff, Pierre-Olivier, Iolascon, Achille, Fibach, Eithan, Koren, Ariel, Rössler, Jochen, Le Merrer, Martine, Yaniv, Isaac, Zaizov, Rina, Ben-Asher, Edna, Olender, Tsvyia, Lancet, Doron, Beckmann, Jacques S., Tamary, Hannah

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Activation of p53 Pathway In Erythroid Precursor Cells of Diamond-Blackfan Anemia Leads to Two Distinct Phenotypes von Moniz, Hélène, Crétien, Aurore, Hurtaud, Corinne, Leblanc, Thierry, Marie, Isabelle, Tchernia, Gil, Vainchenker, William, Narla, Mohandas, Da Costa, Lydie M.

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L'anémie de diamond-blackfan, depuis la découverte du gène de la protéine ribosomique S19 (rps19) von DA COSTA, Lydie, CRETIEN, Aurore, MARIE, Isabelle, TCHERNIA, Gil, LEBLANC, Thierry

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Two Distinct Mechanisms Are Responsible for Regulation of Ribosomal Protein S19 Expression Level in Diamond-Blackfan Anemia by NF-κB Pathway von Hurtaud, Corinne, Cretien, Aurore, Clayette, Valerie, Pisani, Didier, Giraudier, Stephane, Leblanc, Thierry, Delaunay, Jean, Tchernia, Gil, Mohandas, Narla, Costa, Lydie Da

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Impaired ribosome biogenesis in Diamond-Blackfan anemia. Commentary von LIPTON, Jeffrey M, CHOESMEL, Valérie, GLEIZES, Pierre-Emmanuel, BACQUEVILLE, Daniel, ROUQUETTE, Jacques, NOAILLAC-DEPEYRE, Jacqueline, FRIBOURG, Sébastien, CRETIEN, Aurore, LEBLANC, Thierry, TCHERNIA, Gil, DA COSTA, Lydie

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Proteasome Inhibitors Restore to Normal the Decreased Levels of Protein Expression and Nucleolar Localization of Various Mutant Ribosomal S19 Proteins Identified in DBA Patients von Cretien, Aurore, Proust, Alexis, Gazda, Hanna, Meerpohl, Jorg, Niemeyer, Charlotte Marie, Delaunay, Jean, Tchernia, Gil, Narla, Mohandas, Da Costa, Lydie

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The First Homozygous RPS19 Mutation Identified in a Diamond-Blackfan Anemia Patient Is Not Deleterious von Cretien, Aurore, Rince, Patricia, Leblanc, Thierry, Ducrocq, Rolande, Proust, Alexis, Marie, Isabelle, Delaunay, Jean, Narla, Mohandas, Tchernia, Gil, Da Costa, Lydie

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