Publications

Export 5 results:
Filters: Keyword is Killer Cells, Natural  [Clear All Filters]
2024
Reed AE, Peraza J, van den Haak F, Hernandez ER, Gibbs RA, Chinn IK, Lupski JR, Marchi E, Reshef R, Alobeid B, Mace EM, Orange JS. β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 ;212(6):962-973.
2022
Salinas SAndrea, Mace EM, Conte MI, Park CShik, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Satter LRForbes, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, H Lacorazza D, Orange JS. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 ;7(23).
2020
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZCoban, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
2018
Ruiz-García R, Vargas-Hernandez A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 ;142(2):605-617.e7.
1987
Greenberg AH, Egan SE, Jarolim L, Gingras M-C, Wright JA. Natural killer cell regulation of implantation and early lung growth of H-ras-transformed 10T1/2 fibroblasts in mice. Cancer Res. 1987 ;47(18):4801-5.