Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Juan C Ravell"'
Autor:
Sally Hunsberger, Helen F. Matthews, Samuel D. Chauvin, Juan Zou, Morgan Similuk, Helen C. Su, Susan Price, Juan C. Ravell, Alessandra Brofferio, Michael J. Lenardo, Sergio D. Rosenzweig, Jeffrey I. Cohen
Publikováno v:
Journal of Clinical Immunology. 42:108-118
X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disease is an inborn error of immunity caused by loss-of-function mutations in the magnesium transporter 1 (MAGT1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::072293b33e628993122de3bf1b198ec9
https://doi.org/10.1007/s10875-021-01137-w
https://doi.org/10.1007/s10875-021-01137-w
Autor:
Linhong Li, Harry L. Malech, Kennichi C. Dowdell, Julie Brault, Ezekiel Bello, Sherry Koontz, Aaron B. Clark, Ronald J. Meis, Michael J. Lenardo, Colin L. Sweeney, Narda Theobald, Juan C. Ravell, Janet Lee, Gary A. Dahl, Taylor Liu, Suk See De Ravin, Cornell Allen
Publikováno v:
Cytotherapy. 23:203-210
Background aim X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect' (XMEN) disease is caused by mutations in the magnesium transporter 1 (MAGT1) gene. Loss of MAGT1 function results in a glycosyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605d0c3740d24eafd0fe68f135dbbb36
https://doi.org/10.1016/j.jcyt.2020.08.013
https://doi.org/10.1016/j.jcyt.2020.08.013
Publikováno v:
Journal of clinical immunology
"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia" (XMEN) disease is an inborn error of glycosylation and immunity caused by loss of function mutations in the magnesium transporter 1 (MAGT1) gene. It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f0b0282f27b3191b9d1e04e5df198f
https://doi.org/10.1007/s10875-020-00790-x
https://doi.org/10.1007/s10875-020-00790-x
Autor:
Musa Karakukcu, Ratnadeep Mukherjee, Lynne A. Wolfe, Aaron Morawski, Lixin Zheng, Niraj C. Patel, Samuel D. Chauvin, Helen F. Matthews, Brian Sellers, Julio C. Orrego-Arango, Tingyan He, Susan Price, Alexandre G. R. Day, Pankaj Mehta, Les R. Folio, Giulia Notarangelo, Jordan S. Orange, James T. Anibal, Evan M. Masutani, Pam Angelus, Chrysi Kanellopoulou, Claudia M. Trujillo-Vargas, Sally Hunsberger, David E. Kleiner, Suk See De Ravin, Jenna R.E. Bergerson, Michael J. Lenardo, Devika Kapuria, Matthew Biancalana, Gulbu Uzel, Mami Matsuda-Lennikov, Sebastian Gutierrez-Hincapie, Alex George, Camilo Toro, Jeffrey I. Cohen, Juan Zou, Ivan K. Chinn, Juan C. Ravell, Ping Jiang, Harry L. Malech, William A. Gahl, Ekrem Unal, Grégoire Altan-Bonnet, Matthias Mann, Kyle Binder, Turkan Patiroglu, Stefania Pittaluga, Astin Powers, Helen C. Su, Kimiyo Raymond, Marc G. Ghany, Sally J. Deeb, José Luis Franco, V. Koneti Rao
Publikováno v:
The Journal of clinical investigation, vol 130, iss 1
J Clin Invest
J Clin Invest
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff10b75c10af59e6c310b4a286c63be4
https://doi.org/10.1172/jci131116
https://doi.org/10.1172/jci131116
Autor:
Ezekiel Bello, Marita Bosticardo, Ronald J. Meis, Sherry Koontz, Shengdar Q. Tsai, Juan C Ravell, Michael J. Lenardo, Luigi D. Notarangelo, Benjamin P. Kleinstiver, Xiaolin Wu, Cicera R. Lazzarotto, Harry L. Malech, Guillaume Vayssière, Kennichi C. Dowdell, Colin L. Sweeney, Gary A. Dahl, Taylor Q. Liu, Aaron B. Clark, Uimook Choi, Cristina Corsino, Suk See De Ravin, Siyuan Liu, Julie Brault
Publikováno v:
Blood
XMEN disease, defined as “X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus infection and N-linked glycosylation defect,” is a recently described primary immunodeficiency marked by defective T cells and natural killer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc4b75a7fdafd4fa4d8bff8e2be88729
https://europepmc.org/articles/PMC8718624/
https://europepmc.org/articles/PMC8718624/
Autor:
Samuel D, Chauvin, Susan, Price, Juan, Zou, Sally, Hunsberger, Alessandra, Brofferio, Helen, Matthews, Morgan, Similuk, Sergio D, Rosenzweig, Helen C, Su, Jeffrey I, Cohen, Michael J, Lenardo, Juan C, Ravell
Publikováno v:
Journal of clinical immunology. 42(1)
X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disease is an inborn error of immunity caused by loss-of-function mutations in the magnesium transporter 1 (MAGT1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25f70f8c49deba78e2422b0ec943437d
https://pubmed.ncbi.nlm.nih.gov/34655400
https://pubmed.ncbi.nlm.nih.gov/34655400
Autor:
Pamela L. Schwartzberg, Alex George, Nicholas P. Restifo, Lixin Zheng, Ping Du Jiang, Tori N. Yamamoto, Julie Reilley, Margery G. Smelkinson, Mami Matsuda-Lennikov, Chryssa Kanellopoulou, Ping-Hsien Lee, Matthew A. Young, Jennifer L. Cannons, Robin Handon, Michael J. Lenardo, Juan C. Ravell, J. Richard Miller, Evan M. Masutani
Publikováno v:
Journal of Experimental Medicine. 216:1828-1842
Mg2+ is required at micromolar concentrations as a cofactor for ATP, enzymatic reactions, and other biological processes. We show that decreased extracellular Mg2+ reduced intracellular Mg2+ levels and impaired the Ca2+ flux, activation marker up-reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fcf5a8731a3c35c356404936b55524d1
https://doi.org/10.1084/jem.20181970
https://doi.org/10.1084/jem.20181970
Publikováno v:
The Journal of Immunology. 208:159.13-159.13
G Protein-Coupled Receptor 15 (GPR15) is a chemokine receptor, primarily expressed in T cells based on human single-cell RNA sequencing data. Its natural ligand, GPR15L, is found in the gastrointestinal basal epithelial region and presumably guide GP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ae464fa91fb92cc3d7d792e16eedf0e
https://doi.org/10.4049/jimmunol.208.supp.159.13
https://doi.org/10.4049/jimmunol.208.supp.159.13
Autor:
Matthew Biancalana, Lixin Zheng, Chrysi Kanellopoulou, Juan Zou, Giulia Notarangelo, Juan C. Ravell, Ping Jiang, Mami Matsuda-Lennikov, Huie Jing, Andrew J. Oler, Michael J. Lenardo, Lisa Renee Olano, Evan M. Masutani, Benjamin L. Schulz
Publikováno v:
J Biol Chem
Magnesium transporter 1 (MAGT1) critically mediates magnesium homeostasis in eukaryotes and is highly-conserved across different evolutionary branches. In humans, loss–of–function mutations in the MAGT1 gene cause X-linked magnesium deficiency wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be39e9e84daf8d69998724810c2c237e
https://europepmc.org/articles/PMC6746436/
https://europepmc.org/articles/PMC6746436/
Autor:
Joshua McElwee, Emily M. Coonrod, Diane J. Nugent, Jolan E. Walter, Lindsey B. Rosen, Jacob D. Durtschi, Krisztian Csomos, Rebecca Baker, Harry R. Hill, Nancy H. Augustine, Yu Nee Lee, Juan C. Ravell, Luigi D. Notarangelo, Attila Kumánovics, David Buchbinder, Sarah K. Browne, Karl V. Voelkerding, Yu Zhang
Publikováno v:
Journal of Clinical Immunology. 35:119-124
Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65490add906320e9ccec6bec867feef2
https://doi.org/10.1007/s10875-014-0121-5
https://doi.org/10.1007/s10875-014-0121-5