PMC Links for Books (Select 4840038) - PMC

Select item 55586011.

DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice

Tomomi Sakai, Takuya Miyazaki, Dong-Mi Shin, Yong-Soo Kim, Chen-Feng Qi, Robert Fariss, Jeeva Munasinghe, Hongsheng Wang, Alexander L. Kovalchuk, Parul H. Kothari, Charles S. Fermaintt, John P. Atkinson, Fred W. Perrino, Nan Yan, Herbert C. Morse, III

J Autoimmun. Author manuscript; available in PMC 2017 Aug 16.

Published in final edited form as: J Autoimmun. 2017 Jul; 81: 13–23. Published online 2017 Mar 18. doi: 10.1016/j.jaut.2017.03.001

PMCID:: PMC5558601

Article PDF–2.5M

Select item 50910442.

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Anine H. Stam, Parul H. Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C. Jen, Suzanne Hodgkinson, Todd A. Hardy, Michael Hayes, Peter A. Kempster, Katya E. Kotschet, Ingeborg M. Bajema, Sjoerd G. van Duinen, Marion L. C. Maat-Schieman, Paulus T. V. M. de Jong, Marc D. de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R. Kolar, Robert E. Schmidt, JoAnne Lacey, Daniel Joseph, David R. Fintak, M. Gilbert Grand, Elizabeth M. Brunt, Helen Liapis, Rula A. Hajj-Ali, Mark C. Kruit, Mark A. van Buchem, Martin Dichgans, Rune R. Frants, Arn M. J. M. van den Maagdenberg, Joost Haan, Robert W. Baloh, John P. Atkinson, Gisela M. Terwindt, Michel D. Ferrari

Brain. 2016 Nov; 139(11): 2909–2922. Published online 2016 Sep 6. doi: 10.1093/brain/aww217

PMCID:: PMC5091044

Article PDF–1018K

Select item 48583253.

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction

Ivana Vodopivec, Derek H. Oakley, Cory A. Perugino, Nagagopal Venna, E. Tessa Hedley-Whyte, John H. Stone

Ann Neurol. Author manuscript; available in PMC 2016 May 5.

Published in final edited form as: Ann Neurol. 2016 Apr; 79(4): 507–519. Published online 2016 Mar 7. doi: 10.1002/ana.24583

PMCID:: PMC4858325

Article PDF–1.8M

Select item 47319254.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 45752715.

Cytosolic nuclease TREX1 regulates oligosaccharyltransferase activity independent of nuclease activity to suppress immune activation

Maroof Hasan, Charles S. Fermaintt, Ningguo Gao, Tomomi Sakai, Takuya Miyazaki, Sixin Jiang, Quan-Zhen Li, John P. Atkinson, Herbert C. Morse, III, Mark A. Lehrman, Nan Yan

Immunity. Author manuscript; available in PMC 2016 Sep 15.

Published in final edited form as: Immunity. 2015 Sep 15; 43(3): 463–474. Published online 2015 Aug 25. doi: 10.1016/j.immuni.2015.07.022