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E. Mace
E. Mace
Assistant Professor of Pediatrics, Columbia University Medical Center
E-mail confirmado em cumc.columbia.edu - Página inicial
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GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
MA Spinner, LA Sanchez, AP Hsu, PA Shaw, CS Zerbe, KR Calvo, ...
Blood, The Journal of the American Society of Hematology 123 (6), 809-821, 2014
7162014
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ...
Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015
5612015
Distinct antibody responses to SARS-CoV-2 in children and adults across the COVID-19 clinical spectrum
SP Weisberg, TJ Connors, Y Zhu, MR Baldwin, WH Lin, S Wontakal, ...
Nature immunology 22 (1), 25-31, 2021
4982021
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan, Y Sha, M Thamsen, ...
Nature genetics 47 (6), 654-660, 2015
3422015
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
2792017
Natural killer cell lytic granule secretion occurs through a pervasive actin network at the immune synapse
GD Rak, EM Mace, PP Banerjee, T Svitkina, JS Orange
PLoS biology 9 (9), e1001151, 2011
2772011
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset
EM Mace, AP Hsu, L Monaco-Shawver, G Makedonas, JB Rosen, ...
Blood, The Journal of the American Society of Hematology 121 (14), 2669-2677, 2013
2552013
Cell biological steps and checkpoints in accessing NK cell cytotoxicity
EM Mace, P Dongre, HT Hsu, P Sinha, AM James, SS Mann, LR Forbes, ...
Immunology and cell biology 92 (3), 245-255, 2014
2452014
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
IK Chinn, OS Eckstein, EC Peckham-Gregory, BR Goldberg, LR Forbes, ...
Blood, The Journal of the American Society of Hematology 132 (1), 89-100, 2018
1772018
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
MT Lam, S Coppola, OHF Krumbach, G Prencipe, A Insalaco, C Cifaldi, ...
Journal of Experimental Medicine 216 (12), 2778-2799, 2019
1662019
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
MC Mizesko, PP Banerjee, L Monaco-Shawver, EM Mace, WE Bernal, ...
Journal of allergy and clinical immunology 131 (3), 840-848, 2013
1532013
Diversity of peripheral blood human NK cells identified by single-cell RNA sequencing
SL Smith, PR Kennedy, KB Stacey, JD Worboys, A Yarwood, S Seo, ...
Blood advances 4 (7), 1388-1406, 2020
1522020
Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome
MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ...
The American Journal of Human Genetics 102 (6), 1126-1142, 2018
1472018
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity
KL Willmann, S Klaver, F Doğu, E Santos-Valente, W Garncarz, I Bilic, ...
Nature communications 5 (1), 5360, 2014
1402014
Emerging insights into human health and NK cell biology from the study of NK cell deficiencies
EM Mace, JS Orange
Immunological reviews 287 (1), 202-225, 2019
1382019
Practical NK cell phenotyping and variability in healthy adults
LS Angelo, PP Banerjee, L Monaco-Shawver, JB Rosen, G Makedonas, ...
Immunologic research 62, 341-356, 2015
1332015
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics
E Salzer, D Cagdas, M Hons, EM Mace, W Garncarz, ÖY Petronczki, ...
Nature immunology 17 (12), 1352-1360, 2016
1322016
A cell-autonomous mammalian 12 hr clock coordinates metabolic and stress rhythms
B Zhu, Q Zhang, Y Pan, EM Mace, B York, AC Antoulas, CC Dacso, ...
Cell metabolism 25 (6), 1305-1319. e9, 2017
1302017
Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A
EM Mace, JS Orange
Proceedings of the National Academy of Sciences 111 (18), 6708-6713, 2014
1302014
Glycolytic requirement for NK cell cytotoxicity and cytomegalovirus control
AY Mah, A Rashidi, MP Keppel, N Saucier, EK Moore, JB Alinger, ...
JCI insight 2 (23), 2017
1272017
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