A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

Por Devlin, Emily E., DaCosta, Lydie, Mohandas, Narla, Elliott, Gene, Bodine, David M.
Publicado em 2010

Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer()

Por Da Costa, Lydie, Suner, Ludovic, Galimand, Julie, Bonnel, Amandine, Pascreau, Tiffany, Couque, Nathalie, Fenneteau, Odile, Mohandas, Narla
Publicado no Blood Cells Mol Dis (2015)

Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway

Por Antunes, Ana T., Goos, Yvonne J., Pereboom, Tamara C., Hermkens, Dorien, Wlodarski, Marcin W., Da Costa, Lydie, MacInnes, Alyson W.
Publicado no PLoS Genet (2015)

Impaired ribosome biogenesis in Diamond-Blackfan anemia

Por Choesmel, Valérie, Bacqueville, Daniel, Rouquette, Jacques, Noaillac-Depeyre, Jacqueline, Fribourg, Sébastien, Crétien, Aurore, Leblanc, Thierry, Tchernia, Gil, Da Costa, Lydie, Gleizes, Pierre-Emmanuel
Publicado em 2007

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia

Por Varricchio, Lilian, Godbold, James, Scott, Stuart A., Whitsett, Carolyn, Da Costa, Lydie, Pospisilova, Dagmar, Garelli, Emanuela, Quarello, Paola, Ramenghi, Ugo, Migliaccio, Anna Rita
Publicado em 2011

High Resolution Genome-Wide Analysis of Chromosomal Alterations in Burkitt's Lymphoma

Por Toujani, Saloua, Dessen, Philippe, Ithzar, Nathalie, Danglot, Gisèle, Richon, Catherine, Vassetzky, Yegor, Robert, Thomas, Lazar, Vladimir, Bosq, Jacques, Da Costa, Lydie, Pérot, Christine, Ribrag, Vincent, Patte, Catherine, Wiels, Jöelle, Bernheim, Alain
Publicado em 2009

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Por Aspesi, Anna, Pavesi, Elisa, Robotti, Elisa, Crescitelli, Rossella, Boria, Ilenia, Avondo, Federica, Moniz, Hélène, Da Costa, Lydie, Mohandas, Narla, Roncaglia, Paola, Ramenghi, Ugo, Ronchi, Antonella, Gustincich, Stefano, Merlin, Simone, Marengo, Emilio, Ellis, Steven R., Follenzi, Antonia, Santoro, Claudio, Dianzani, Irma
Publicado em 2014

Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway

Por Heijnen, Harry F., van Wijk, Richard, Pereboom, Tamara C., Goos, Yvonne J., Seinen, Cor W., van Oirschot, Brigitte A., van Dooren, Rowie, Gastou, Marc, Giles, Rachel H., van Solinge, Wouter, Kuijpers, Taco W., Gazda, Hanna T., Bierings, Marc B., Da Costa, Lydie, MacInnes, Alyson W.
Publicado em 2014

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

Por Arnaud, Lionel, Saison, Carole, Helias, Virginie, Lucien, Nicole, Steschenko, Dominique, Giarratana, Marie-Catherine, Prehu, Claude, Foliguet, Bernard, Montout, Lory, de Brevern, Alexandre G., Francina, Alain, Ripoche, Pierre, Fenneteau, Odile, Da Costa, Lydie, Peyrard, Thierry, Coghlan, Gail, Illum, Niels, Birgens, Henrik, Tamary, Hannah, Iolascon, Achille, Delaunay, Jean, Tchernia, Gil, Cartron, Jean-Pierre
Publicado em 2010

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

Por Gazda, Hanna T. , Grabowska, Agnieszka , Merida-Long, Lilia B. , Latawiec, Elzbieta , Schneider, Hal E. , Lipton, Jeffrey M. , Vlachos, Adrianna , Atsidaftos, Eva , Ball, Sarah E. , Orfali, Karen A. , Niewiadomska, Edyta , Da Costa, Lydie , Tchernia, Gil , Niemeyer, Charlotte , Meerpohl, Joerg J. , Stahl, Joachim , Schratt, Gerhard , Glader, Bertil , Backer, Karen , Wong, Carolyn , Nathan, David G. , Beggs, Alan H. , Sieff, Colin A. 
Publicado em 2006

The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update

Por Boria, Ilenia, Garelli, Emanuela, Gazda, Hanna T., Aspesi, Anna, Quarello, Paola, Pavesi, Elisa, Ferrante, Daniela, Meerpohl, Joerg J., Kartal, Mutlu, Da Costa, Lydie, Proust, Alexis, Leblanc, Thierry, Simansour, Maud, Dahl, Niklas, Fröjmark, Anne-Sophie, Pospisilova, Dagmar, Cmejla, Radek, Beggs, Alan H., Sheen, Mee R., Landowski, Michael, Buros, Christopher M., Clinton, Catherine M., Dobson, Lori J., Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Publicado no Hum Mutat (2010)