PMC Links for OMIM (Select 314370) - PMC

Select item 95233731.

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Marcela A. Ferrada, Sinisa Savic, Daniela Ospina Cardona, Jason C. Collins, Hugh Alessi, Fernanda Gutierrez-Rodrigues, Dinesh Babu Uthaya Kumar, Lorena Wilson, Wendy Goodspeed, James S. Topilow, Julie J. Paik, James A. Poulter, Tanaz A. Kermani, Matthew J. Koster, Kenneth J. Warrington, Catherine Cargo, Rachel S. Tattersall, Christopher J. A. Duncan, Anna Cantor, Patrycja Hoffmann, Elspeth M. Payne, Hanna Bonnekoh, Karoline Krause, Edward W. Cowen, Katherine R. Calvo, Bhavisha A. Patel, Amanda K. Ombrello, Daniel L. Kastner, Neal S. Young, Achim Werner, Peter C. Grayson, David B. Beck

Blood. 2022 Sep 29; 140(13): 1496–1506. doi: 10.1182/blood.2022016985

PMCID:: PMC9523373

Abstract Article

Select item 84624002.

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

James A. Poulter, Jason C. Collins, Catherine Cargo, Ruth M. De Tute, Paul Evans, Daniela Ospina Cardona, David T. Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic

Blood. 2021 Jul 1; 137(26): 3676–3681. Prepublished online 2021 Mar 9. doi: 10.1182/blood.2020010286

PMCID:: PMC8462400

Abstract Article

Select item 78475513.

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei, Nicholas Balanda, Daron L. Ross, Daniela Ospina Cardona, Zhijie Wu, Bhavisha Patel, Kalpana Manthiram, Emma M. Groarke, Fernanda Gutierrez-Rodrigues, Patrycja Hoffmann, Sofia Rosenzweig, Shuichiro Nakabo, Laura W. Dillon, Christopher S. Hourigan, Wanxia L. Tsai, Sarthak Gupta, Carmelo Carmona-Rivera, Anthony J. Asmar, Lisha Xu, Hirotsugu Oda, Wendy Goodspeed, Karyl S. Barron, Michele Nehrebecky, Anne Jones, Ryan S. Laird, Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V. Wells, Chyi-Chia R. Lee, Weixin Wang, Megan Trick, James Mullikin, Gustaf Wigerblad, Stephen Brooks, Stefania Dell’Orso, Zuoming Deng, Jae J. Chae, Alina Dulau-Florea, May C.V. Malicdan, Danica Novacic, Robert A. Colbert, Mariana J. Kaplan, Massimo Gadina, Sinisa Savic, Helen J. Lachmann, Mones Abu-Asab, Benjamin D. Solomon, Kyle Retterer, William A. Gahl, Shawn M. Burgess, Ivona Aksentijevich, Neal S. Young, Katherine R. Calvo, Achim Werner, Daniel L. Kastner, Peter C. Grayson

N Engl J Med. Author manuscript; available in PMC 2021 Jun 30.

Published in final edited form as: N Engl J Med. 2020 Dec 31; 383(27): 2628–2638. Published online 2020 Oct 27. doi: 10.1056/NEJMoa2026834

PMCID:: PMC7847551

Abstract Article PDF–1.3M

Select item 22539594.

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Juliane Ramser, Mary Ellen Ahearn, Claus Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman, Alfons Meindl, Lisa Baumbach-Reardon

Am J Hum Genet. 2008 Jan 10; 82(1): 188–193. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.009