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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Vydáno v:JCI Insight
Hlavní autoři: Oyarbide, Usua, Shah, Arish N., Amaya-Mejia, Wilmer, Snyderman, Matthew, Kell, Margaret J., Allende, Daniela S., Calo, Eliezer, Topczewski, Jacek, Corey, Seth J.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2020
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7526460/
https://ncbi.nlm.nih.gov/pubmed/32759502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.134309
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