Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans

Autor: Samuel D. Chauvin, Shoichiro Ando, Joe A. Holley, Atsushi Sugie, Fang R. Zhao, Subhajit Poddar, Rei Kato, Cathrine A. Miner, Yohei Nitta, Siddharth R. Krishnamurthy, Rie Saito, Yue Ning, Yuya Hatano, Sho Kitahara, Shin Koide, W. Alexander Stinson, Jiayuan Fu, Nehalee Surve, Lindsay Kumble, Wei Qian, Oleksiy Polishchuk, Prabhakar S. Andhey, Cindy Chiang, Guanqun Liu, Ludovic Colombeau, Raphaël Rodriguez, Nicolas Manel, Akiyoshi Kakita, Maxim N. Artyomov, David C. Schultz, P. Toby Coates, Elisha D. O. Roberson, Yasmine Belkaid, Roger A. Greenberg, Sara Cherry, Michaela U. Gack, Tristan Hardy, Osamu Onodera, Taisuke Kato, Jonathan J. Miner

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)

Abstract Age-related microangiopathy, also known as small vessel disease (SVD), causes damage to the brain, retina, liver, and kidney. Based on the DNA damage theory of aging, we reasoned that genomic instability may underlie an SVD caused by dominan

Externí odkaz: https://doaj.org/article/ca3eac3b209b443bb4c3882b9c20a335

A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease

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

GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans

Autor: Yikun Yao, Ping Du Jiang, Brittany N. Chao, Deniz Cagdas, Satoshi Kubo, Arasu Balasubramaniyam, Yu Zhang, Bella Shadur, Adeeb NaserEddin, Les R. Folio, Benjamin Schwarz, Eric Bohrnsen, Lixin Zheng, Matthew Lynberg, Simone Gottlieb, Michael A. Leney-Greene, Ann Y. Park, Ilhan Tezcan, Ali Akdogan, Rahsan Gocmen, Sevgen Onder, Avi Rosenberg, Elizabeth J. Soilleux, Errin Johnson, Peter K. Jackson, Janos Demeter, Samuel D. Chauvin, Florian Paul, Matthias Selbach, Haydar Bulut, Menna R. Clatworthy, Zewen K. Tuong, Hanlin Zhang, Benjamin J. Stewart, Catharine M. Bosio, Polina Stepensky, Simon Clare, Sundar Ganesan, John C. Pascall, Oliver Daumke, Geoffrey W. Butcher, Andrew J. McMichael, Anna Katharina Simon, Michael J. Lenardo

Inborn errors of immunity (IEIs) unveil regulatory pathways of human immunity. We describe a new IEI caused by mutations in the GTPase of the immune-associated protein 6 (GIMAP6) gene in patients with infections, lymphoproliferation, autoimmunity, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e875cafd6e83da3c9610e843fba1a87e
http://edoc.mdc-berlin.de/21629/1/21629oa.pdf

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

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

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

Integration concept of an Electron Cyclotron System in DEMO

Autor: Gaetano Aiello, Mattia Siccinio, Peter Spaeh, C. Gliss, Minh Quang Tran, C. Wu, Gerd Gantenbein, Saul Garavaglia, F. Fanale, Th. Franke, Ioannis G. Tigelis, G. Suarez Lopez, C. Tsironis, C. Bachmann, D. Chauvin, Alessandro Moro, H. Zohm, René Chavan, Alex Bruschi, N. Rispoli, Konstantinos A. Avramidis, Dirk Strauss, B. Baiocchi, Fabio Subba, Gustavo Granucci, L. Figini, M. Moscheni, John Jelonnek, A. Cufar, C. Baylard

Publikováno v: Fusion Engineering and Design, 168, Art.-Nr.: 112653
Fusion Engineering and Design
Fusion engineering and design 168 (2021): 112653-1–112653-9. doi:10.1016/j.fusengdes.2021.112653
info:cnr-pdr/source/autori:Franke T.; Aiello G.; Avramidis K.; Bachmann C.; Baiocchi B.; Baylard C.; Bruschi A.; Chauvin D.; Cufar A.; Chavan R.; Gliss C.; Fanale F.; Figini L.; Gantenbein G.; Garavaglia S.; Granucci G.; Jelonnek J.; Lopez G.S.; Moro A.; Moscheni M.; Rispoli N.; Siccinio M.; Spaeh P.; Strauss D.; Subba F.; Tigelis I.; Tran M.Q.; Tsironis C.; Wu C.; Zohm H./titolo:Integration concept of an Electron Cyclotron System in DEMO/doi:10.1016%2Fj.fusengdes.2021.112653/rivista:Fusion engineering and design/anno:2021/pagina_da:112653-1/pagina_a:112653-9/intervallo_pagine:112653-1–112653-9/volume:168

The pre-conceptual layout for an electron cyclotron system (ECS) in DEMO is described. The present DEMO ECS considers only equatorial ports for both plasma heating and neoclassical tearing mode (NTM) control. This differs from ITER, where four launch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ff95e98c50a042fbb61b21871c1f11
https://publikationen.bibliothek.kit.edu/1000134264