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Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. To elucidate VEXAS pathophysiology, we performed transcriptome sequencing of single...

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Detalles Bibliográficos
Autores principales: Wu, Zhijie, Gao, Shouguo, Gao, Qingyan, Patel, Bhavisha A., Groarke, Emma M., Feng, Xingmin, Manley, Ash Lee, Li, Haoran, Ospina Cardona, Daniela, Kajigaya, Sachiko, Alemu, Lemlem, Quinones Raffo, Diego, Ombrello, Amanda K., Ferrada, Marcela A., Grayson, Peter C., Calvo, Katherine R., Kastner, Daniel L., Beck, David B., Young, Neal S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439277/
https://www.ncbi.nlm.nih.gov/pubmed/37586319
http://dx.doi.org/10.1016/j.xcrm.2023.101160