An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity

Diamond-Blackfan anemia (DBA) is a genetic blood disease caused by heterozygous loss-of-function mutations in ribosomal protein (RP) genes, most commonly RPS19. The signature feature of DBA is hypoplastic anemia occurring in infants, although some older patients develop multilineage cytopenias with...

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Detalles Bibliográficos
Autores principales: Bhoopalan, Senthil Velan, Yen, Jonathan S., Mayuranathan, Thiyagaraj, Mayberry, Kalin D., Yao, Yu, Lillo Osuna, Maria Angeles, Jang, Yoonjeong, Liyanage, Janaka S.S., Blanc, Lionel, Ellis, Steven R., Wlodarski, Marcin W., Weiss, Mitchell J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870085/
https://www.ncbi.nlm.nih.gov/pubmed/36413407
http://dx.doi.org/10.1172/jci.insight.161810

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870085/
https://www.ncbi.nlm.nih.gov/pubmed/36413407
http://dx.doi.org/10.1172/jci.insight.161810

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