Original paper
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse
Abstract
The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynostosis and retained deciduous teeth. We characterize the impact of the variant on cytokine signaling in vitro using transfected cell lines as well as primary patient-derived cells and support these findings using a mouse model with the...
Paper Details
Title
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse
Published Date
Jun 11, 2020
Journal
Volume
8
Issue
1
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Notes
History