Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β

Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β

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 CD56bright or CD56dim NK cell subset proportions in p...

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Bibliographic Details
Main Authors: Lachlan P. Healy, Gustavo R. Rossi, Jai Rautela, Charlotte A. Slade, Nicholas D. Huntington, Ingrid M. Winship, Fernando Souza-Fonseca-Guimaraes
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Immunology
Subjects:
SMAD4
loss-of-function mutations
Hereditary Hemorrhagic Telangiectasia
NK cell
TGF-β signaling
CD56bright/dim subsets
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.00904/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.00904/full

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