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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
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
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Managing the Unusual Causes of Fetal Anemia
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Published in Fetal diagnosis and therapy (01.02.2020)
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Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
Wlodarski, Marcin W, Vlachos, Adrianna, Farrar, Jason E, Da Costa, Lydie M, Kattamis, Antonis, Dianzani, Irma, Belendez, Cristina, Unal, Sule, Tamary, Hannah, Pasauliene, Ramune, Pospisilova, Dagmar, de la Fuente, Josu, Iskander, Deena, Wolfe, Lawrence, Liu, Johnson M, Shimamura, Akiko, Albrecht, Katarzyna, Lausen, Birgitte, Bechensteen, Anne Grete, Tedgard, Ulf, Puzik, Alexander, Quarello, Paola, Ramenghi, Ugo, Bartels, Marije, Hengartner, Heinz, Farah, Roula A, Al Saleh, Mahasen, Hamidieh, Amir Ali, Yang, Wan, Ito, Etsuro, Kook, Hoon, Ovsyannikova, Galina, Kager, Leo, Gleizes, Pierre-Emmanuel, Dalle, Jean-Hugues, Strahm, Brigitte, Niemeyer, Charlotte M, Lipton, Jeffrey M, Leblanc, Thierry M
Published in The Lancet. Haematology (01.05.2024)
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Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes
Pereboom, Tamara C, Bondt, Albert, Pallaki, Paschalina, Klasson, Tim D, Goos, Yvonne J, Essers, Paul B, Groot Koerkamp, Marian J.A, Gazda, Hanna T, Holstege, Frank C.P, Costa, Lydie Da, MacInnes, Alyson W
Published in Experimental hematology (01.05.2014)
Published in Experimental hematology (01.05.2014)
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Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders
Da Costa, Lydie, Galimand, Julie, Fenneteau, Odile, Mohandas, Narla
Published in Blood reviews (01.07.2013)
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Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic condition
Renoux, Céline, Faivre, Magalie, Bessaa, Amel, Da Costa, Lydie, Joly, Philippe, Gauthier, Alexandra, Connes, Philippe
Published in Scientific reports (01.05.2019)
Published in Scientific reports (01.05.2019)
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Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A
Gonzalez-Menendez, Pedro, Phadke, Ira, Olive, Meagan E., Joly, Axel, Papoin, Julien, Yan, Hongxia, Galtier, Jérémy, Platon, Jessica, Kang, Sun Woo Sophie, McGraw, Kathy L., Daumur, Marie, Pouzolles, Marie, Kondo, Taisuke, Boireau, Stéphanie, Paul, Franciane, Young, David J., Lamure, Sylvain, Mirmira, Raghavendra G., Narla, Anupama, Cartron, Guillaume, Dunbar, Cynthia E., Boyer-Clavel, Myriam, Porat-Shliom, Natalie, Dardalhon, Valérie, Zimmermann, Valérie S., Sitbon, Marc, Dever, Thomas E., Mohandas, Narla, Da Costa, Lydie, Udeshi, Namrata D., Blanc, Lionel, Kinet, Sandrina, Taylor, Naomi
Published in Blood (18.05.2023)
Published in Blood (18.05.2023)
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Mechanical Signature of Red Blood Cells Flowing Out of a Microfluidic Constriction Is Impacted by Membrane Elasticity, Cell Surface-to-Volume Ratio and Diseases
Faivre, Magalie, Renoux, Céline, Bessaa, Amel, Da Costa, Lydie, Joly, Philippe, Gauthier, Alexandra, Connes, Philippe
Published in Frontiers in physiology (12.06.2020)
Published in Frontiers in physiology (12.06.2020)
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Brain injury pathophysiology study by a multimodal approach in children with sickle cell anemia with no intra or extra cranial arteriopathy
Brousse, Valentine, Pondarre, Corinne, Kossorotoff, Manoelle, Arnaud, Cecile, Kamdem, Annie, de Montalembert, Mariane, Boutonnat-Faucher, Benedicte, Allali, Slimane, Bourdeau, Hélène, Charlot, Keyne, Bertil, Sebastien, Da Costa, Lydie, Connes, Philippe, Grévent, David, Verlhac, Suzanne
Published in Haematologica (Roma) (01.04.2022)
Published in Haematologica (Roma) (01.04.2022)
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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism
Lezzerini, Marco, Penzo, Marianna, O’Donohue, Marie-Françoise, Marques dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, Kuiper, Roland P, Bierings, Marc B, van der Werff ten Bosch, Jutte, Leblanc, Thierry, Montanaro, Lorenzo, Dinman, Jonathan D, Da Costa, Lydie, Gleizes, Pierre-Emmanuel, MacInnes, Alyson W
Published in Nucleic acids research (24.01.2020)
Published in Nucleic acids research (24.01.2020)
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Blocking Macrophage Migration Inhibitory Factor Protects Against Cisplatin-Induced Acute Kidney Injury in Mice
Li, Jinhong, Tang, Ying, Tang, Patrick M.K., Lv, Jun, Huang, Xiao-ru, Carlsson-Skwirut, Christine, Da Costa, Lydie, Aspesi, Anna, Fröhlich, Suada, Szczęśniak, Pawel, Lacher, Philipp, Klug, Jörg, Meinhardt, Andreas, Fingerle-Rowson, Günter, Gong, Rujun, Zheng, Zhihua, Xu, Anping, Lan, Hui-yao
Published in Molecular therapy (03.10.2018)
Published in Molecular therapy (03.10.2018)
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The ribosomal basis of diamond-blackfan anemia: mutation and database update
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, M. Buros, Christopher, M. Clinton, Catherine, J. Dobson, Lori, Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Published in Human mutation (01.12.2010)
Published in Human mutation (01.12.2010)
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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome
Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny
Published in Annals of neurology (01.07.2017)
Published in Annals of neurology (01.07.2017)
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Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
Colin, Elia, Courtois, Geneviève, Brouzes, Chantal, Pulman, Juliette, Rabant, Marion, Rötig, Agnès, Taffin, Hélène, Lion-Lambert, Mathilde, Fabrega, Sylvie, Da Costa, Lydie, De Montalembert, Mariane, Salomon, Rémi, Hermine, Olivier, Couronné, Lucile
Published in Haematologica (Roma) (01.12.2021)
Published in Haematologica (Roma) (01.12.2021)
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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
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
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis
Lonetti, Annalisa, Indio, Valentina, Dianzani, Irma, Ramenghi, Ugo, Da Costa, Lydie, Pospíšilová, Dagmar, Migliaccio, Anna Rita
Published in Frontiers in physiology (13.10.2021)
Published in Frontiers in physiology (13.10.2021)
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