Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Jordan S. Orange"'
Autor:
Adam J. Harvey, Lulu Yin, Jacob Peter Matson, Jack Hedberg, Debashree Basu, John Taylor, Megan Schmit, Liangjun Wang, Jenny C. Taylor, Elizabeth Ormondroyd, Jordan S. Orange, Hideki Aihara, Edward Blair, Colette B. Rogers, Eric A. Hendrickson, Jeanette Gowen Cook, Ryan M. Baxley, Emily M. Mace, Alistair T. Pagnamenta, Anja Katrin Bielinsky, Wendy Leung, Hugh Watkins, Helene Dreau, Jude Craft, Marissa K. Oram, Grant S. Stewart
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 variants in patients with distinctive, but overlapping, clinical phenotypes: natural killer (NK) cell deficiency
Autor:
Elizabeth Ormondroyd, Hideki Aihara, Emily M. Mace, Anja Katrin Bielinsky, James Taylor, Judith Craft, Alistair T. Pagnamenta, Ryan M. Baxley, Ed Blair, Helene Dreau, Jacob Peter Matson, Wendy Leung, Debashree Basu, Jenny C. Taylor, Grant S. Stewart, Megan Schmit, Jack Hedberg, Hugh Watkins, Adam J. Harvey, Lynn Wang, Colette B. Rogers, Eric A. Hendrickson, Lulu Yin, Cook Jg, Marissa K. Oram, Jordan S. Orange
Minichromosome maintenance protein 10 (Mcm10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 mutations in patients with distinctive but overlapping clinical phenotypes – natural killer (NK) cell deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7c950e29951ab73bbca61c278674d00
https://doi.org/10.1101/844498
https://doi.org/10.1101/844498
Autor:
Donna M. Muzny, Stephen Jolles, Asbjørg Stray-Pedersen, Ivan K. Chinn, Jolanta Chmielowiec, Malgorziata Borowiak, Emily M. Mace, Shalini N. Jhangiani, Megan Schmit, Silke Paust, Colin G. Steward, Mo Moody, Philip Connor, Richard A. Gibbs, Matilde I. Conte, Pinaki P. Banerjee, Rachel E. Bradley, Jordan S. Orange, Malini Mukherjee, Zeynep Coban Akdemir, Ryan M. Baxley, Ashley E. Pezzi, Adrian Heaps, James R. Lupski, Anja Katrin Bielinsky, Swetha Tatineni
Human natural killer cell deficiency (NKD) arises from inborn errors of immunity that lead to impaired NK cell development, function or both. Through the understanding of the biological perturbations in individuals with NKD, requirements for the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28c924977c37186f489298988f38039d
Autor:
Jordan S. Orange, Emily M. Mace
Publikováno v:
J Immunol
The discovery of the Wiskott–Aldrich syndrome (WAS) protein gene ( WASP , now known as WAS ) by Derry et al. ([1][1]) in 1994 accelerated the field of immune cell biology and studies of the molecular basis of inborn human immune defects, otherwise
Autor:
Lavesh A. Gwalani, Jordan S. Orange
Publikováno v:
The Journal of Immunology. 200:3231-3243
NK cells are cytotoxic lymphocytes important in defense against viral infection and cancer. NK cells mediate cytotoxicity predominantly through directed secretion of lytic granules, which are specialized lysosome-related organelles, containing effect
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)
Frontiers in Pediatrics
Frontiers in Pediatrics
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
Publikováno v:
The FASEB Journal. 33
Autor:
Bryan Strenkowski, Jordan S. Orange, Rahul Pandey, Marina Bakay, Hakon Hakonarson, Jake A. Kushner, Anastasiya Yermakova, Heather S. Hain
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Vol 10 (2019)
Frontiers in Immunology, Vol 10 (2019)
CLEC16A locus polymorphisms have been associated with several autoimmune diseases. We overexpressed CLEC16A in YTS natural killer (NK) cells and observed reduced NK cell cytotoxicity and IFN-γ release, delayed dendritic cell (DC) maturation, decreas
Human NK cell development requires CD56-mediated motility and formation of the developmental synapse
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications
Nature Communications
While distinct stages of natural killer (NK) cell development have been defined, the molecular interactions that shape human NK cell maturation are poorly understood. Here we define intercellular interactions between developing NK cells and stromal c
Autor:
Christa S. Zerbe, Steven M. Holland, Ofer Zimmerman, Alexandra F. Freeman, Jennifer W. Leiding, Alexander Vargas Hernandez, Troy Torgerson, Nicholas L. Rider, Ivan K. Chinn, Charlotte Cunningham-Rundles, Matthew C. Altman, Sergio D. Rosenzweig, Imelda C. Hanson, Emily M. Mace, Edith Schussler, Lisa R. Forbes, Jordan S. Orange
BackgroundNatural Killer (NK) cells are critical innate effector cells whose development is dependent on the JAK-STAT pathway. NK deficiency can result in severe or refractory viral infections. Patients with Signal Transducer and Activator of Transcr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0406f3bd8ead82af3cd02ec5478c5369