Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Gülbü Uzel"'
Autor:
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their of
Externí odkaz:
https://doaj.org/article/3117ca222ae44c57838f942448f49e14
Autor:
Alice Y. Chan, Jennifer W. Leiding, Xuerong Liu, Brent R. Logan, Lauri M. Burroughs, Eric J. Allenspach, Suzanne Skoda-Smith, Gulbu Uzel, Luigi D. Notarangelo, Mary Slatter, Andrew R. Gennery, Angela R. Smith, Sung-Yun Pai, Michael B. Jordan, Rebecca A. Marsh, Morton J. Cowan, Christopher C. Dvorak, John A. Craddock, Susan E. Prockop, Shanmuganathan Chandrakasan, Neena Kapoor, Rebecca H. Buckley, Suhag Parikh, Deepak Chellapandian, Benjamin R. Oshrine, Jeffrey J. Bednarski, Megan A. Cooper, Shalini Shenoy, Blachy J. Davila Saldana, Lisa R. Forbes, Caridad Martinez, Elie Haddad, David C. Shyr, Karin Chen, Kathleen E. Sullivan, Jennifer Heimall, Nicola Wright, Monica Bhatia, Geoffrey D. E. Cuvelier, Frederick D. Goldman, Isabelle Meyts, Holly K. Miller, Markus G. Seidel, Mark T. Vander Lugt, Rosa Bacchetta, Katja G. Weinacht, Jeffrey R. Andolina, Emi Caywood, Hey Chong, Maria Teresa de la Morena, Victor M. Aquino, Evan Shereck, Jolan E. Walter, Morna J. Dorsey, Christine M. Seroogy, Linda M. Griffith, Donald B. Kohn, Jennifer M. Puck, Michael A. Pulsipher, Troy R. Torgerson
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminish
Externí odkaz:
https://doaj.org/article/a25da82b983d4175a8a4ab79f5cbf956
Autor:
Ohad Etzion, Varun Takyar, Victor Novack, Ahmed M. Gharib, Raissa Canales, Akeem Adebogun, Eric Matsumoto, Jason L. Eccleston, David E. Kleiner, Sergio D. Rosenzweig, Meral Gunay‐Aygun, Gulbu Uzel, Ivan Fuss, Richard Childs, Steven M. Holland, Elliot B. Levy, T. Jake Liang, Theo Heller, Christopher Koh
Publikováno v:
Hepatology Communications, Vol 2, Iss 8, Pp 923-932 (2018)
Noncirrhotic portal hypertension (NCPH) is a rare disease that may lead to serious clinical consequences. Currently, noninvasive tools for the assessment of NCPH are absent. We investigated the utility of spleen and liver volumetrics as a marker of t
Externí odkaz:
https://doaj.org/article/660f828319034a26addd93540707d5a5
Autor:
Jalila Alshekaili, Rochna Chand, Cindy Eunhee Lee, Susan Corley, Kristy Kwong, Ilenia Papa, David A. Fulcher, Katrina L. Randall, Jennifer W. Leiding, Cindy S. Ma, Marc R. Wilkins, Gulbu Uzel, Chris C. Goodnow, Carola G. Vinuesa, Stuart G. Tangye, Matthew C. Cook
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract A subset of human follicular helper T cells (TFH) cells expresses CD57 for which no distinct function has been identified. We show that CD57+ TFH cells are universally PD-1hi, but compared to their CD57− PD-1hi counterparts, express little
Externí odkaz:
https://doaj.org/article/e2eb94b50da340409764c3fb20783667
Autor:
Christoph Jandl, Sue M. Liu, Pablo F. Cañete, Joanna Warren, William E. Hughes, Alexis Vogelzang, Kylie Webster, Maria E. Craig, Gulbu Uzel, Alexander Dent, Polina Stepensky, Bärbel Keller, Klaus Warnatz, Jonathan Sprent, Cecile King
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
IL-21 is central to follicular helper T cell function and germinal centre responses. Here the authors show that IL-21 signalling directly inhibits T follicular regulatory cells by limiting Bcl-6-dependent IL-2 receptor expression.
Externí odkaz:
https://doaj.org/article/7d6cbfdd10b44261bcdec7f07420ffa0
Autor:
Ofer Zimmerman, Peter Olbrich, Alexandra F. Freeman, Lindsey B. Rosen, Gulbu Uzel, Christa S. Zerbe, Sergio D. Rosenzweig, Hye Sun Kuehn, Kevin L. Holmes, David Stephany, Li Ding, Elizabeth P. Sampaio, Amy P. Hsu, Steven M. Holland
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Signal transducer and activator of transcription (STAT1)1 gain of function (GOF) pathogenic variants have been associated with increased levels of phosphorylated STAT1 and STAT1-dependent cellular responses. Delayed dephosphorylation was proposed as
Externí odkaz:
https://doaj.org/article/7451b57e604e4c9b9b380c85439ac3fb
Autor:
Djuro Karanovic, Ian C. Michelow, Anthony R. Hayward, Suk See DeRavin, Ottavia M. Delmonte, Michael E. Grigg, Adam Kerry Dobbs, Julie E. Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D. Rosenzweig, Gulbu Uzel, Luigi D. Notarangelo
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysreg
Externí odkaz:
https://doaj.org/article/91e24ad155c14f3995e7c86499bc37f9
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Activated phosphoinositide 3-kinase delta syndrome (APDS), also known as p110 delta-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency (PASLI), is an autosomal dominant primary human immunodeficiency (PID) caused by h
Externí odkaz:
https://doaj.org/article/58b0d2d32e654c06a76a73dec6b1194b
Autor:
Guowu Hu, Travis McQuiston, Amélie Bernard, Yoon-Dong Park, Jin Qiu, Ali Vural, Nannan Zhang, Scott R. Waterman, Nathan H. Blewett, Timothy G. Myers, John H. Kehrl, Gulbu Uzel, Daniel J. Klionsky, Peter R. Williamson
Publikováno v:
Microbial Cell, Vol 2, Iss 8, Pp 302-304 (2015)
Eukaryotic cells utilize macroautophagy (hereafter autophagy) to recycle cellular materials during nutrient stress. Target of rapamycin (Tor) is a central regulator of this process, acting by post-translational mechanisms, phosphorylating preformed a
Externí odkaz:
https://doaj.org/article/db2bb091eeb6457996b1fa78f44e36ea
Autor:
Andrew H. Lipsky, Mohammed Z.H. Farooqui, Xin Tian, Sabrina Martyr, Ann M. Cullinane, Khanh Nghiem, Clare Sun, Janet Valdez, Carsten U. Niemann, Sarah E. M. Herman, Nakhle Saba, Susan Soto, Gerald Marti, Gulbu Uzel, Steve M. Holland, Jay N. Lozier, Adrian Wiestner
Publikováno v:
Haematologica, Vol 100, Iss 12 (2015)
Ibrutinib is associated with bleeding-related adverse events of grade ≤2 in severity, and infrequently with grade ≥3 events. To investigate the mechanisms of bleeding and identify patients at risk, we prospectively assessed platelet function and
Externí odkaz:
https://doaj.org/article/d75d533e17b04f32bc69e6334efd688a