Results 61 to 70 of about 3,419 (164)

Research Progress in VEXAS Syndrome

罕见病研究
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset, X-linked clonal autoinflammatory disease caused by somatic mutations in the UBA1 gene, characterized by systemic inflammation accompanied by hematologic clonal ...
JIN Xianghong, XU Jin, CHEN Miao, ZHUANG Junling, SHEN Min   +4 more
doaj   +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

Ischemia‐Induced Post‐Translational Modifications of GLT‐1 Mediate Aberrant Trafficking and Impaired Glutamate Uptake

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
Ischemic insult causes hyper‐glutamatergic signaling and neuronal death. The astrocytic transporter GLT‐1, which clears extracellular glutamate, is internalized and degraded in response to ischemia. We found that lysine‐directed post‐translational modifications (particularly ubiquitination) of the C‐terminal domain drive aberrant trafficking ...
Simran Kaur Gill, Katelyn Louise Reeb, Max Kroll, Ole V. Mortensen, Andréia C. K. Fontana   +4 more
wiley   +1 more source

A Novel Use of Anifrolumab for a Novel Disease

ACR Open Rheumatology, Volume 8, Issue 5, May 2026.
Objective To explore the potential role of type‐I interferon (IFN‐I) signaling in autoimmune cytopenias outside the context of systemic lupus erythematosus (SLE), and to evaluate the clinical response to off‐label anifrolumab in two patients with fatigue and immune‐mediated cytopenias who did not meet established criteria for SLE.
Zachary Holtz, Adam Schulz, Alexa Meara
wiley   +1 more source

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome

International Journal of Laboratory Hematology, EarlyView.
Andrew Y. Sung, Jackson W. Douglas, Olga K. Weinberg, Sharon K. Germans, Weina Chen   +4 more
wiley   +1 more source

Proteomic Profiling of Human Extracellular Vesicles Reveals Diagnostic Biomarkers for Colon Adenocarcinoma

Journal of Extracellular Vesicles, Volume 15, Issue 4, April 2026.
Proteomic profiling of tissue explant‐ and plasma‐derived extracellular vesicles identified colon adenocarcinoma‐associated and healthy‐associated EV proteins. A 10‐protein EV panel enabled highly sensitive blood‐based detection of colon adenocarcinoma, showed marked postoperative changes, and retained performance in an independent validation cohort ...
Yura Seo, Yoon Dae Han, Linda Bojmar, Kyung‐A Kim, Yurin Seo, Taeyul K. Kim, Suho Lee, Yeleem Kim, Hye Bin Choi, Yujin H. Lim, Chae Hyun Kim, Alexander Sandberg, Chuanwen Fan, Pernille Lauritzen, Henrik Molina, Christopher Peralta, Jacob B. Geri, Colin Burdette, Dai Hoon Han, Heon Yung Gee, Insuk Lee, Jeon‐Soo Shin, Hyunwook Kim, Leon Li, Gabriel C. Tobias, Inbal Wortzel, Sang Joon Shin, Hyo‐Il Jung, Min Goo Lee, Soonmyung Paik, Robert E. Schwartz, Joong Bae Ahn, David Lyden, Han Sang Kim   +33 more
wiley   +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

The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report

Journal of Investigative Medicine High Impact Case Reports
VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological ...
Jowan Al-Nusair, Olivia Lim, Leena Alhusari, Abdelwahap Elghezewi, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles   +6 more
doaj   +1 more source

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome

: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot.
Morsia E., Firinu D., Spinelli O., Vitale A., Gurnari C., Rivoli G., Romano F., Sockel K., Bocchia M., Triggianese P., Dagna L., Piciocchi A., Salmoiraghi S., Ciceri F., Bergonzi G. M., Campochiaro C., Casciani E., Galossi E., Papayannidis C., Diral E., Pilo F., Frigeni M., Cantarini L., Dragani M., D'Agostino F., Lumia E., Tomelleri A., Voso M. T., Greco R., Cardamone C., Pane F., Savi A., Plebani S., Battipaglia G., Caroni F., Divona M., D'Ambrosio A., Thiede C., Crisà E., Condorelli A.   +39 more
core   +1 more source

VEXAS syndrome as a cause of debilitating fatigue and intermittent fever [PDF]

, 2023
VEXAS (vakuoler, E1-enzym, genvariant på X-kromosomet, utoinflammation, somatisk)-syndrom er et autoinflammatorisk syndrom først beskrevet i 2020. VEXAS-syndrom skyldes en genvariation med dysfunktion i ubiquitin-like modifier activating enzyme 1-genet ...
Dreyer, Lene, Ettrup, Marianne Schmidt, Al-Mashhadi, Ahmed Ludvigsen, Alkattan, Maiada   +3 more
core   +1 more source