An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia

por Da Costa, Lydie, Narla, Anupama, Mohandas, Narla
Publicado 2018

Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic condition

por Renoux, Céline, Faivre, Magalie, Bessaa, Amel, Da Costa, Lydie, Joly, Philippe, Gauthier, Alexandra, Connes, Philippe
Publicado 2019

Mechanical Signature of Red Blood Cells Flowing Out of a Microfluidic Constriction Is Impacted by Membrane Elasticity, Cell Surface-to-Volume Ratio and Diseases

por Faivre, Magalie, Renoux, Céline, Bessaa, Amel, Da Costa, Lydie, Joly, Philippe, Gauthier, Alexandra, Connes, Philippe
Publicado 2020

The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms a...

por Lonetti, Annalisa, Indio, Valentina, Dianzani, Irma, Ramenghi, Ugo, Da Costa, Lydie, Pospíšilová, Dagmar, Migliaccio, Anna Rita
Publicado 2021

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 2015

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

por van Dooijeweert, Birgit, Kia, Sima Kheradmand, Dahl, Niklas, Fenneteau, Odile, Leguit, Roos, Nieuwenhuis, Edward, van Solinge, Wouter, van Wijk, Richard, Da Costa, Lydie, Bartels, Marije
Publicado 2022

One-Fifth of Children with Sickle Cell Anemia Show Exercise-Induced Hemoglobin Desaturation: Rate of Perceived Exertion and Role of Blood Rheology

por Brousse, Valentine, Pondarre, Corinne, Arnaud, Cecile, Kamden, Annie, de Montalembert, Mariane, Boutonnat-Faucher, Benedicte, Bourdeau, Hélène, Charlot, Keyne, Grévent, David, Verlhac, Suzanne, da Costa, Lydie, Connes, Philippe
Publicado 2020

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients

por Bertocchio, Jean-Philippe, Genetet, Sandrine, Da Costa, Lydie, Walsh, Stephen B., Knebelmann, Bertrand, Galimand, Julie, Bessenay, Lucie, Guitton, Corinne, De Lafaille, Renaud, Vargas-Poussou, Rosa, Eladari, Dominique, Mouro-Chanteloup, Isabelle
Publicado 2020

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 2009

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia

por 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
Publicado 2021

Brain injury pathophysiology study by a multimodal approach in children with sickle cell anemia with no intra or extra cranial arteriopathy

por 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
Publicado 2021

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

por 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
Publicado 2017

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

por Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, del Mar Mañú-Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, van Wijk, Richard, van der Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille
Publicado 2022

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 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 2014

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

por Wlodarski, Marcin W., Da Costa, Lydie, O’Donohue, Marie-Françoise, Gastou, Marc, Karboul, Narjesse, Montel-Lehry, Nathalie, Hainmann, Ina, Danda, Dominika, Szvetnik, Amina, Pastor, Victor, Paolini, Nahuel, di Summa, Franca M., Tamary, Hannah, Quider, Abed Abu, Aspesi, Anna, Houtkooper, Riekelt H., Leblanc, Thierry, Niemeyer, Charlotte M., Gleizes, Pierre-Emmanuel, MacInnes, Alyson W.
Publicado 2018

Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A

por Gianferante, D. Matthew, Wlodarski, Marcin W., Atsidaftos, Evangelia, Da Costa, Lydie, Delaporta, Polyxeni, Farrar, Jason E., Goldman, Frederick D., Hussain, Maryam, Kattamis, Antonis, Leblanc, Thierry, Lipton, Jeffrey M., Niemeyer, Charlotte M., Pospisilova, Dagmar, Quarello, Paola, Ramenghi, Ugo, Sankaran, Vijay G., Vlachos, Adrianna, Volejnikova, Jana, Alter, Blanche P., Savage, Sharon A., Giri, Neelam
Publicado 2020

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

por O’Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L. J., MacInnes, Alyson W.
Publicado 2022

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

por 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
Publicado 2020