Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy

Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and skeletal abnormalities. Biallelic mutations in SBDS, which encodes a ribosome maturation factor, are found in 90% of SDS cases. Sbds(–/–) mice are embryonic lethal. Using CRISPR/Cas9 editing, we...

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Detalles Bibliográficos
Autores principales: Oyarbide, Usua, Shah, Arish N., Amaya-Mejia, Wilmer, Snyderman, Matthew, Kell, Margaret J., Allende, Daniela S., Calo, Eliezer, Topczewski, Jacek, Corey, Seth J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526460/
https://www.ncbi.nlm.nih.gov/pubmed/32759502
http://dx.doi.org/10.1172/jci.insight.134309

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526460/
https://www.ncbi.nlm.nih.gov/pubmed/32759502
http://dx.doi.org/10.1172/jci.insight.134309

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