| Title: |
Loss-of-function in SMad4 might not be critical for human natural killer cell responsiveness to TGF-β |
| Authors: |
Healy, LP; Rossi, GR; Rautela, J; Slade, CA; Huntington, ND; Winship, IM; Souza-Fonseca-Guimaraes, F |
| Publisher Information: |
FRONTIERS MEDIA SA |
| Publication Year: |
2019 |
| Collection: |
The University of Melbourne: Digital Repository |
| Description: |
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 peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
1664-3224 |
| Relation: |
https://hdl.handle.net/11343/245651 |
| Availability: |
https://hdl.handle.net/11343/245651 |
| Rights: |
https://creativecommons.org/licenses/by/4.0 ; CC BY |
| Accession Number: |
edsbas.A2C3E9DA |
| Database: |
BASE |