Results 81 to 90 of about 4,126 (198)

VEXAS syndrome in a female with constitutional monosomy X

EULAR Rheumatology Open
: The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 gene in haematopoietic progenitor cells and predominantly affects elderly males. However,
Nikolas Ruffer, Simon Melderis, Olaf Determann, Lana Harder, Isabell Haase, Ina Kötter, Anja Lüdemann, Martin Krusche   +7 more
doaj   +1 more source

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. [PDF]

, 2017
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To
Heath, P.R., Highley, J.R., Simpson, J.E., Tu, W.Y.   +3 more
core   +1 more source

Navigating through uncertainty—Experience from the UK national VEXAS MDT

British Journal of Haematology, Volume 208, Issue 4, Page 1306-1313, April 2026.
Summary The objective of this study was to describe the establishment, structure and influence of the United Kingdom national multidisciplinary team (MDT) for vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome and to assess its clinical outputs and perceived value among participating clinicians.
Daniel Pietsch, Austin Kulasekararaj, Sinisa Savic, on behalf of VEXNET‐UK MDT, Adam Al‐Hakim, Tanya Basu, Catherine Cargo, Onima Chowdhry, James Galloway, Eiphyu Htut, Stephen Jolles, Arvind Kaul, Helen Lachmann, Calman A. MacLennan, Anoop Mistry, Elspeth Payne, James Poulter, Farzana Rahman, Manoj Raghavan, Rachel Tattersall, Roochi Trikha, Villyn Yong, Taryn Youngstein, Anna Babb, Celia Beynon, Sarah Bingham, Nuno Borges, Jenny Bosworth, Carlos Campani, Marian Chan, Shikha Chattree, Niall Conlon, Robert Corser, Elena Ganendra, Paraskevi Gkreka, William Gordon, Elisabeth Grey‐Davies, Joanna Haughton, Simona Huica, Pawel Kaczmarek, Alison Laing, Areti Makrygeorgou, Susanna Mathew, Jill Mccormick, Muhammad Mohsin, Vidhya Murthy, Sateesh Nagumantry, Ognjenka Savanovic‐Abel, Shaun Smale, Alex Sternberg, Rosemary Waller, Sarah Westbury   +51 more
wiley   +1 more source

Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome in the intensive care unit: a case report

Journal of Medical Case Reports, 2023
Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome is a newly discovered inflammatory disease affecting male subjects, for which few data exist in the literature.
Félicie Belicard, Nicolas Belhomme, Simon Bouzy, Clémence Saillard, Fabienne Nedelec, Jean-Baptiste Mear, Samuel Ardois, Cedric Pastoret, Florian Reizine, Christophe Camus, Benoit Painvin   +10 more
doaj   +1 more source

Dynamics of re-constitution of the human nuclear proteome after cell division is regulated by NLS-adjacent phosphorylation [PDF]

, 2014
Phosphorylation by the cyclin-dependent kinase 1 (Cdk1) adjacent to nuclear localization signals (NLSs) is an important mechanism of regulation of nucleocytoplasmic transport. However, no systematic survey has yet been performed in human cells to analyze
Bodaen, Mikael, Borsos, Mate, Bozooky, Zoltan, Buday, Laszlo, Christie, Mary, Ellis, Jonathan J., Kobe, Bostjan, Koornyei, Zsuzsanna, Madaraasz, Emilia, Mehdi, Ahmed M., Neubrandt, Mate, Roona, Gergely, Tooth, Judit, Veertessy, Beata G.   +13 more
core   +2 more sources

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome

Nature Communications
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is caused by inactivating somatic mutations in the UBA1 gene. Here, we characterize the immunological landscape of VEXAS syndrome by performing multi-omics single-cell RNA analysis,
Hiroki Mizumaki, Shouguo Gao, Zhijie Wu, Fernanda Gutierrez-Rodrigues, Massimiliano Bissa, Xingmin Feng, Emma M. Groarke, Haoran Li, Lemlem Alemu, Diego Quinones Raffo, Ivana Darden, Sachiko Kajigaya, Peter C. Grayson, Genoveffa Franchini, Neal S. Young, Bhavisha A. Patel   +15 more
doaj   +1 more source

Neddylation Targets and Stabilizes NLRP3 to Augment Inflammasome‐Mediated Colitis and Mood Disorder

Advanced Science, Volume 13, Issue 16, 18 March 2026.
NLRP3 inflammasome contributes to colitis and mood disorder. This study demonstrates that neddylation targets NLRP3 at K287, which hinders its interaction with K48‐linked ubiquitination E3 Trim31 and thereby stabilizes it. Neddylation blockade in myeloid cells and microglia mitigates DSS‐induced colitis and psychological stress‐induced anxiety‐like ...
Wenbin Gai, Mengyao Wu, Anbiao Wu, Zhaofei Jing, Zhenjie Ye, Jiayan Jin, Yaolin Zhang, Min Zhao, Genyu Liu, Xu Wang, Xiqin Yang, Jie Dong, Yunlu Xu, Jiyan Zhang   +13 more
wiley   +1 more source

Analysis of 245,368 diverse individuals from the NIH All of Us Cohort identifies incomplete penetrance of the VEXAS-defining UBA1 p.M41L somatic mutation [PDF]

, 2023
Robert W. Corty, Kevin Byram, Jason Springer, Peter C. Grayson, Alexander G. Bick   +4 more
openalex   +1 more source

Schnitzler Syndrome as an Autoinflammatory Disease Driven by B‐Cell‐Specific Somatic MYD88 Mutation

Allergy, EarlyView.
Yuyi Zhou, Yoko Ueki, Naoya Iwata, Hiroshi Oue, Kentaro Kato, Mengyan Li, Kazushi Izawa, Tomoyasu Jo, Seishi Ogawa, Kenji Kabashima, Naotomo Kambe   +10 more
wiley   +1 more source

echinus, required for interommatidial cell sorting and cell death in the Drosophila pupal retina, encodes a protein with homology to ubiquitin-specific proteases [PDF]

, 2007
Background: Programmed cell death is used to remove excess cells between ommatidia in the Drosophila pupal retina. This death is required to establish the crystalline, hexagonal packing of ommatidia that characterizes the adult fly eye.
Bosdet, Ian, Copeland, Jeffrey M., Freeman, J. Douglas, Gorski, Sharon M., Guo, Ming, Hay, Bruce A.   +5 more
core   +4 more sources