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

The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants exhibiting bone marrow failure, short stature, faci...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Plenary Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136880/
https://www.ncbi.nlm.nih.gov/pubmed/35213692
http://dx.doi.org/10.1182/blood.2021011846

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136880/
https://www.ncbi.nlm.nih.gov/pubmed/35213692
http://dx.doi.org/10.1182/blood.2021011846

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