Pesquisa | Portal de Pesquisa da BVS

1.

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.

Salzer, Elisabeth; Cagdas, Deniz; Hons, Miroslav; Mace, Emily M; Garncarz, Wojciech; Petronczki, Özlem Yüce; Platzer, René; Pfajfer, Laurène; Bilic, Ivan; Ban, Sol A; Willmann, Katharina L; Mukherjee, Malini; Supper, Verena; Hsu, Hsiang Ting; Banerjee, Pinaki P; Sinha, Papiya; McClanahan, Fabienne; Zlabinger, Gerhard J; Pickl, Winfried F; Gribben, John G; Stockinger, Hannes; Bennett, Keiryn L; Huppa, Johannes B; Dupré, Loïc; Sanal, Özden; Jäger, Ulrich; Sixt, Michael; Tezcan, Ilhan; Orange, Jordan S; Boztug, Kaan.

Nat Immunol ; 17(12): 1352-1360, 2016 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-27776107

2.

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.

Gruber, Conor N; Calis, Jorg J A; Buta, Sofija; Evrony, Gilad; Martin, Jerome C; Uhl, Skyler A; Caron, Rachel; Jarchin, Lauren; Dunkin, David; Phelps, Robert; Webb, Bryn D; Saland, Jeffrey M; Merad, Miriam; Orange, Jordan S; Mace, Emily M; Rosenberg, Brad R; Gelb, Bruce D; Bogunovic, Dusan.

Immunity ; 53(3): 672-684.e11, 2020 09 15.

Artigo em Inglês | MEDLINE | ID: mdl-32750333

3.

CD56 Expression Marks Human Group 2 Innate Lymphoid Cell Divergence from a Shared NK Cell and Group 3 Innate Lymphoid Cell Developmental Pathway.

Chen, Luxi; Youssef, Youssef; Robinson, Cameron; Ernst, Gabrielle F; Carson, Mary Y; Young, Karen A; Scoville, Steven D; Zhang, Xiaoli; Harris, Regine; Sekhri, Palak; Mansour, Anthony G; Chan, Wing K; Nalin, Ansel P; Mao, Hsiaoyin C; Hughes, Tiffany; Mace, Emily M; Pan, Yinghong; Rustagi, Navin; Chatterjee, Sujash S; Gunaratne, Preethi H; Behbehani, Gregory K; Mundy-Bosse, Bethany L; Caligiuri, Michael A; Freud, Aharon G.

Immunity ; 49(3): 464-476.e4, 2018 09 18.

Artigo em Inglês | MEDLINE | ID: mdl-30193847

4.

Comment on: Evidence of innate lymphoid cell redundancy in humans.

Orange, Jordan S; Mace, Emily M; French, Anthony R; Yokoyama, Wayne M; Fehniger, Todd A; Cooper, Megan A.

Nat Immunol ; 19(8): 788-789, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-30026477

5.

Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation.

Caballero, Madison; Ge, Tiffany; Rebelo, Ana Rita; Seo, Seungmae; Kim, Sean; Brooks, Kayla; Zuccaro, Michael; Kanagaraj, Radhakrishnan; Vershkov, Dan; Kim, Dongsung; Smogorzewska, Agata; Smolka, Marcus; Benvenisty, Nissim; West, Stephen C; Egli, Dieter; Mace, Emily M; Koren, Amnon.

Hum Mol Genet ; 31(17): 2899-2917, 2022 08 25.

Artigo em Inglês | MEDLINE | ID: mdl-35394024

6.

Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells.

Lisco, Andrea; Hsu, Amy P; Dimitrova, Dimana; Proctor, Diana M; Mace, Emily M; Ye, Peiying; Anderson, Megan V; Hicks, Stephanie N; Grivas, Christopher; Hammoud, Dima A; Manion, Maura; Starrett, Gabriel J; Farrel, Alvin; Dobbs, Kerry; Brownell, Isaac; Buck, Christopher; Notarangelo, Luigi D; Orange, Jordan S; Leonard, Warren J; Orestes, Michael I; Peters, Anju T; Kanakry, Jennifer A; Segre, Julia A; Kong, Heidi H; Sereti, Irini.

N Engl J Med ; 385(10): 921-929, 2021 09 02.

Artigo em Inglês | MEDLINE | ID: mdl-34469647

7.

PGE₂ expression by HPV6/11-induced respiratory papillomas blocks NK cell activation in patients with recurrent respiratory papillomatosis.

Israr, Mohd; Lam, Fung; DeVoti, James; Mace, Emily M; Papayannakos, Christopher; Abramson, Allan; Steinberg, Bettie M; Bonagura, Vincent R.

Eur J Immunol ; : e2250036, 2023 Jan 06.

Artigo em Inglês | MEDLINE | ID: mdl-36608264

8.

Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.

Mace, Emily M; Orange, Jordan S.

Immunol Rev ; 287(1): 202-225, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30565241

9.

Differential Integrin Adhesome Expression Defines Human NK Cell Residency and Developmental Stage.

Hegewisch-Solloa, Everardo; Seo, Seungmae; Mundy-Bosse, Bethany L; Mishra, Anjali; Waldman, Erik H; Maurrasse, Sarah; Grunstein, Eli; Connors, Thomas J; Freud, Aharon G; Mace, Emily M.

J Immunol ; 207(3): 950-965, 2021 08 01.

Artigo em Inglês | MEDLINE | ID: mdl-34282002

10.

Human natural killer cells: Form, function, and development.

Mace, Emily M.

J Allergy Clin Immunol ; 2022 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-36195172

11.

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.

Forbes, Lisa R; Eckstein, Olive S; Gulati, Nitya; Peckham-Gregory, Erin C; Ozuah, Nmazuo W; Lubega, Joseph; El-Mallawany, Nader K; Agrusa, Jennifer E; Poli, M Cecilia; Vogel, Tiphanie P; Chaimowitz, Natalia S; Rider, Nicholas L; Mace, Emily M; Orange, Jordan S; Caldwell, Jason W; Aldave-Becerra, Juan C; Jolles, Stephen; Saettini, Francesco; Chong, Hey J; Stray-Pedersen, Asbjorg; Heslop, Helen E; Kamdar, Kala Y; Rouce, R Helen; Muzny, Donna M; Jhangiani, Shalini N; Gibbs, Richard A; Coban-Akdemir, Zeynep H; Lupski, James R; McClain, Kenneth L; Allen, Carl E; Chinn, Ivan K.

J Allergy Clin Immunol ; 149(2): 758-766, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34329649

12.

Fc Î³ receptor IIIa/CD16a processing correlates with the expression of glycan-related genes in human natural killer cells.

Patel, Kashyap R; Rodriguez Benavente, Maria C; Lorenz, W Walter; Mace, Emily M; Barb, Adam W.

J Biol Chem ; 296: 100183, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33310702

13.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Poli, M Cecilia; Ebstein, Frédéric; Nicholas, Sarah K; de Guzman, Marietta M; Forbes, Lisa R; Chinn, Ivan K; Mace, Emily M; Vogel, Tiphanie P; Carisey, Alexandre F; Benavides, Felipe; Coban-Akdemir, Zeynep H; Gibbs, Richard A; Jhangiani, Shalini N; Muzny, Donna M; Carvalho, Claudia M B; Schady, Deborah A; Jain, Mahim; Rosenfeld, Jill A; Emrick, Lisa; Lewis, Richard A; Lee, Brendan; Zieba, Barbara A; Küry, Sébastien; Krüger, Elke; Lupski, James R; Bostwick, Bret L; Orange, Jordan S.

Am J Hum Genet ; 102(6): 1126-1142, 2018 06 07.

Artigo em Inglês | MEDLINE | ID: mdl-29805043

14.

A research-driven approach to the identification of novel natural killer cell deficiencies affecting cytotoxic function.

Lam, Michael T; Mace, Emily M; Orange, Jordan S.

Blood ; 135(9): 629-637, 2020 02 27.

Artigo em Inglês | MEDLINE | ID: mdl-31945148

15.

Notch Regulates Innate Lymphoid Cell Plasticity during Human NK Cell Development.

Nalin, Ansel P; Kowalski, Jesse J; Sprague, Alexander C; Schumacher, Blaire K; Gerhardt, Adam G; Youssef, Youssef; Vedantam, Kiran V; Zhang, Xiaoli; Siebel, Christian W; Mace, Emily M; Caligiuri, Michael A; Mundy-Bosse, Bethany L; Freud, Aharon G.

J Immunol ; 205(10): 2679-2693, 2020 11 15.

Artigo em Inglês | MEDLINE | ID: mdl-33020148

16.

Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.

Lisco, Andrea; Ye, Peying; Wong, Chun-Shu; Pei, Luxin; Hsu, Amy P; Mace, Emily M; Orange, Jordan S; Lage, Silvia Lucena; Ward, Addison Jon; Migueles, Stephen A; Connors, Mark; Anderson, Megan V; Buckner, Clarisa M; Moir, Susan; Rupert, Adam; Dulau-Florea, Alina; Ogbogu, Princess; Timberlake, Dylan; Notarangelo, Luigi D; Pittaluga, Stefania; Abraham, Roshini S; Sereti, Irini.

J Infect Dis ; 223(4): 645-654, 2021 02 24.

Artigo em Inglês | MEDLINE | ID: mdl-33471124

17.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Chinn, Ivan K; Eckstein, Olive S; Peckham-Gregory, Erin C; Goldberg, Baruch R; Forbes, Lisa R; Nicholas, Sarah K; Mace, Emily M; Vogel, Tiphanie P; Abhyankar, Harshal A; Diaz, Maria I; Heslop, Helen E; Krance, Robert A; Martinez, Caridad A; Nguyen, Trung C; Bashir, Dalia A; Goldman, Jordana R; Stray-Pedersen, Asbjørg; Pedroza, Luis A; Poli, M Cecilia; Aldave-Becerra, Juan C; McGhee, Sean A; Al-Herz, Waleed; Chamdin, Aghiad; Coban-Akdemir, Zeynep H; Jhangiani, Shalini N; Muzny, Donna M; Cao, Tram N; Hong, Diana N; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; McClain, Kenneth L; Allen, Carl E.

Blood ; 132(1): 89-100, 2018 07 05.

Artigo em Inglês | MEDLINE | ID: mdl-29632024

18.

Schistosomiasis Induces Persistent DNA Methylation and Tuberculosis-Specific Immune Changes.

DiNardo, Andrew R; Nishiguchi, Tomoki; Mace, Emily M; Rajapakshe, Kimal; Mtetwa, Godwin; Kay, Alexander; Maphalala, Gugu; Secor, W Evan; Mejia, Rojelio; Orange, Jordan S; Coarfa, Cristian; Bhalla, Kapil N; Graviss, Edward A; Mandalakas, Anna M; Makedonas, George.

J Immunol ; 201(1): 124-133, 2018 07 01.

Artigo em Inglês | MEDLINE | ID: mdl-29752313

19.

Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.

Vargas-Hernández, Alexander; Witalisz-Siepracka, Agnieszka; Prchal-Murphy, Michaela; Klein, Klara; Mahapatra, Sanjana; Al-Herz, Waleed; Mace, Emily M; Carisey, Alexandre F; Orange, Jordan S; Sexl, Veronika; Forbes, Lisa R.

J Allergy Clin Immunol ; 145(1): 345-357.e9, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31600547

20.

Membrane and Actin Tethering Transitions Help IQGAP1 Coordinate GTPase and Lipid Messenger Signaling.

Trenton, Nicholaus J; McLaughlin, R Tyler; Bellamkonda, Satya K; Tsao, David S; Rodzinski, Alexandra; Mace, Emily M; Orange, Jordan S; Schweikhard, Volker; Diehl, Michael R.

Biophys J ; 118(3): 586-599, 2020 02 04.

Artigo em Inglês | MEDLINE | ID: mdl-31952801

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