The European Ribosomopathy Consortium

• Applicant: Professorin Dr. Miriam Erlacher
• Subject Area: Hematology, Oncology ; Pediatric and Adolescent Medicine
• Term: from 2020 to 2024
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 441083606

• Final Report Year: 2025

No abstract available

Publications

• GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease. Genes, 13(3), 447.
  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
  
• HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. Blood, 139(21), 3111-3126.
  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 ... & MacInnes, Alyson W.
  
• An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants. JCI Insight, 9(17).
  Fellmann, Florence; Saunders, Carol; O’Donohue, Marie-Françoise; Reid, David W.; McFadden, Kelsey A.; Montel-Lehry, Nathalie; Yu, Cong; Fang, Mingyan; Zhang, Jianguo; Royer-Bertrand, Beryl; Farinelli, Pietro; Karboul, Narjesse; Willer, Jason R.; Fievet, Lorraine; Bhuiyan, Zahurul Alam; Kleinhenz, Alissa L.W.; Jadeau, Julie; Fulbright, Joy; Rivolta, Carlo ... & Gleizes, Pierre-Emmanuel
  
• Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement. The Lancet Haematology, 11(5), e368-e382.
  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 ... & Leblanc, Thierry M.
  
• Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?. Blood Cells, Molecules, and Diseases, 106, 102838.
  Da Costa, L.; Mohandas, Narla; David-NGuyen, Ludivine; Platon, Jessica; Marie, Isabelle; O.'Donohue, Marie Françoise; Leblanc, Thierry & Gleizes, Pierre-Emmanuel