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Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

The mechanisms of coordinated changes in proteome composition and their relevance for the differentiation of neutrophil granulocytes are not well studied. Here, we discover 2 novel human genetic defects in signal recognition particle receptor alpha (SRPRA) and SRP19, constituents of the mammalian co...

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Detalles Bibliográficos
Autores principales: Linder, Monika I., Mizoguchi, Yoko, Hesse, Sebastian, Csaba, Gergely, Tatematsu, Megumi, Łyszkiewicz, Marcin, Ziȩtara, Natalia, Jeske, Tim, Hastreiter, Maximilian, Rohlfs, Meino, Liu, Yanshan, Grabowski, Piotr, Ahomaa, Kaarin, Maier-Begandt, Daniela, Schwestka, Marko, Pazhakh, Vahid, Isiaku, Abdulsalam I., Briones Miranda, Brenda, Blombery, Piers, Saito, Megumu K., Rusha, Ejona, Alizadeh, Zahra, Pourpak, Zahra, Kobayashi, Masao, Rezaei, Nima, Unal, Ekrem, Hauck, Fabian, Drukker, Micha, Walzog, Barbara, Rappsilber, Juri, Zimmer, Ralf, Lieschke, Graham J., Klein, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651786/
https://www.ncbi.nlm.nih.gov/pubmed/36223592
http://dx.doi.org/10.1182/blood.2022016783