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 cr...

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Bibliographic Details
Main Authors: Usua Oyarbide, Arish N. Shah, Wilmer Amaya-Mejia, Matthew Snyderman, Margaret J. Kell, Daniela S. Allende, Eliezer Calo, Jacek Topczewski, Seth J. Corey
Format: Article
Language:English
Published: American Society for Clinical investigation 2020-09-01
Series:JCI Insight
Subjects:
Online Access:https://doi.org/10.1172/jci.insight.134309