Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Alexander Vargas-Hernández"'
Publikováno v:
Frontiers in Immunology, Vol 13 (2023)
The Signal Transducer and Activator of Transcription (STAT)-5 proteins are required in immune regulation and homeostasis and play a crucial role in the development and function of several hematopoietic cells. STAT5b activation is involved in the expr
Externí odkaz:
https://doaj.org/article/04be51ee468e451c91fc79fde90c04a8
Autor:
Alejandra Aird, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation and survival. Heterozyg
Externí odkaz:
https://doaj.org/article/1eab47348551429cb8c5a97383b3954c
Autor:
Natalia S. Chaimowitz, Justin Branch, Anaid Reyes, Alexander Vargas-Hernández, Jordan S. Orange, Lisa R. Forbes, Mohammed Ehlayel, Saleema C. Purayil, Maryam Ali Al-Nesf, Tiphanie P. Vogel
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective
Externí odkaz:
https://doaj.org/article/636fc4e955c54f929bec846ffd1f8034
Autor:
Sarah E. Henrickson, Joseph G. Dolan, Lisa R. Forbes, Alexander Vargas-Hernández, Shiho Nishimura, Satoshi Okada, Leslie S. Kersun, Garrett M. Brodeur, Jennifer R. Heimall
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
In this report, we describe a novel T437N STAT1 mutation found in a mother and 3 of her 4 children which we demonstrate yields gain-of-function. All of the four patients with the T437N STAT1 mutation experienced lymphadenopathy. However, two of the c
Externí odkaz:
https://doaj.org/article/77ca43005b864a82b04fa619b58daa1d
Autor:
Simon J. Pelham, Maria Soledad Caldirola, Danielle T. Avery, Joseph Mackie, Geetha Rao, Florian Gothe, Timothy J. Peters, Antoine Guerin, David Neumann, Doris Vokurkova, Vivian Hwa, Wenming Zhang, Shu-Chen Lyu, Iris Chang, Monali Manohar, Kari C. Nadeau, Maria Isabel Gaillard, Liliana Bezrodnik, Violeta Iotova, Norberto Walter Zwirner, Mavel Gutierrez, Waleed Al-Herz, Christopher C. Goodnow, Alexander Vargas-Hernández, Lisa R. Forbes Satter, Sophie Hambleton, Elissa K. Deenick, Cindy S. Ma, Stuart G. Tangye
Publikováno v:
Journal of Allergy and Clinical Immunology. 150:931-946
Lymphocyte differentiation is regulated by coordinated actions of cytokines and signaling pathways. IL-21 activates STAT1, STAT3, and STAT5 and is fundamental for the differentiation of human B cells into memory cells and antibody-secreting cells. Wh
Autor:
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
Publikováno v:
Molecular Immunology. 115:21-30
NK cells are important early effectors in the innate immune response to a variety of viral infections and for elimination of tumor cells. The JAK/STAT signaling cascade is critical for NK cell development, maturation, survival, and proliferation, the
Autor:
Baoyu Chen, Susan Price, Moza Al Hassani, M. Cecilia Poli, Ivan K. Chinn, Zeynep H. Coban-Akdemir, Tram N. Cao, Sarah Cook, Sylvain Latour, Gehad ElGhazali, Geoffrey D.E. Cuvelier, Jason W. Caldwell, Sheng Yang, D. Eric Anderson, Jordan S. Orange, Douglas B. Kuhns, Lisa R. Forbes, Alexander Vargas-Hernández, Soma Jyonouchi, Nikita Raje, Aiman J. Faruqi, V. Koneti Rao, Michael J. Lenardo, Benjamin Fournier, Alexandre F. Carisey, Donna M. Muzny, Shalini N. Jhangiani, James R. Lupski, Morgan Similuk, Wadih Abou Chahla, Janis K. Burkhardt, Yanping Huang, Nawal Al Kaabi, William A. Comrie, Richard A. Gibbs, Margery G. Smelkinson, Emily M. Mace, Zain Al Yafei, Andrew J. Oler
Publikováno v:
Science
Science, American Association for the Advancement of Science, 2020, 369 (6500), pp.202-207. ⟨10.1126/science.aay5663⟩
BASE-Bielefeld Academic Search Engine
Science, American Association for the Advancement of Science, 2020, 369 (6500), pp.202-207. ⟨10.1126/science.aay5663⟩
BASE-Bielefeld Academic Search Engine
An inherited disorder makes WAVEs The WAVE regulatory complex (WRC) is a multiunit complex that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for the WRC has not yet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234bbc7516711e8791b736237bbbf410
https://hal.archives-ouvertes.fr/hal-03065558
https://hal.archives-ouvertes.fr/hal-03065558
Autor:
Alexander Vargas-Hernández, Stella P. Hartono, Ivan K. Chinn, Stephen Jolles, Mark J. Ponsford, Lisa R. Forbes, Keith Wilson
Publikováno v:
Journal of Clinical Immunology. 38:753-756
Autor:
Michael J. Lenardo, Geoffrey D.E. Cuvelier, Jason W. Caldwell, Chahla Wa, Alexandre F. Carisey, Aiman J. Faruqi, Nikita Raje, Andrew J. Oler, Emily M. Mace, David E. Anderson, Baoyu Chen, Maria Cecilia Poli, Zeynep H. Coban-Akdemir, Alexander Vargas-Hernández, Yafei Za, Sarah Cook, Benjamin Fournier, Donna M. Muzny, William A. Comrie, Morgan Similuk, ElGhazali G, Susan Price, Jordan S. Orange, Sylvain Latour, Douglas B. Kuhns, Richard A. Gibbs, Shalini N. Jhangiani, Rao Vk, Yanping Huang, Tram N. Cao, Sheng Yang, Hassani Ma, Lupski, Lisa R. Forbes, Soma Jyonouchi, Ivan K. Chinn, Kaabi Na, Janis K. Burkhardt
Immunodeficiency often coincides with immune hyperresponsiveness such as autoimmunity, lymphoproliferation, or atopy, but the molecular basis of this paradox is typically unknown. We describe four families with immunodeficiency coupled with atopy, ly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529202c508a3e2b235529c41e3aef906
https://doi.org/10.1101/692004
https://doi.org/10.1101/692004