Loss-of-Function in SMAD4 might not be critical for human natural killer cell responsiveness to TGF-beta
Journal Title
Frontiers in Immunology
Publication Type
Journal Article
We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56(bright) or CD56(dim) NK cell subset proportions in peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-beta1. These data suggest that SMAD4 plays a redundant role in downstream TGF-beta signaling in NK cells.
Frontiers Media
WEHI Research Division(s)
PubMed ID
Open Access at Publisher's Site
Rights Notice
Refer to copyright notice on published article.

Creation Date: 2019-06-14 09:36:57
Last Modified: 2019-06-14 11:05:50
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