Results 71 to 80 of about 3,775 (171)

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

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

VEXAS without vacuoles: Linking genotype to phenotype

eJHaem
Introduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within ...
Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel   +3 more
doaj   +1 more source

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome

Practical Laboratory Medicine
Objectives: Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.M41V (c.121A > G), and p.M41L (c.121A > C) in codon 41 of exon 3.
Yunqing Ma, ShianPin Hu, Rui Ni, Wei Liu, Andrew Fu, Michael Sha, Aiguo Zhang, Chuanyi M. Lu   +7 more
doaj   +1 more source

Case report: VEXAS syndrome: first documented cases in Latin America

Frontiers in Hematology
IntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati, Inés Gervaz, Inés Gervaz, Martín Yandian, Martín Yandian, Matilde Boada, Matilde Boada, Gabriela Vidal-Senmache, Percy Ortiz-Guerra, Ana I. Catalán, Patricia Kutscher, Diego Lopez, Lilian Diaz, Sofia Grille, Sofia Grille   +14 more
doaj   +1 more source

Case report: VEXAS syndrome and literature review

Frontiers in Hematology
VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene.
Can Jones, Can Jones, Stanislav Ivanov, Pablo Ferraro, Pablo Ferraro, Souhad Younes, Souhad Younes, Hugo Fernandez   +7 more
doaj   +1 more source

Analysis of a temperature‐sensitive mutation in Uba1: Effects of the click reaction on subsequent immunolabeling of proteins involved in DNA replication

FEBS Open Bio, 2015
In our previous study, a Met‐to‐Ile substitution at amino acid 256 in the catalytic domain of Uba1 was determined in temperature‐sensitive CHO‐K1 mutant tsTM3 cells, which exhibited chromosomal instability and cell‐cycle arrest in the S to G2 phases with
Kimihiko Sugaya, Yoshie Ishihara, Sonoe Inoue   +2 more
doaj   +1 more source

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

Current status and prospects of diagnosis and treatment of VEXAS syndrome [PDF]

Zhenduanxue lilun yu shijian
VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized autoinflammatory disease involving multiple systems, caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene.
QIAN Haozhou, CHANG Chunkang
doaj   +1 more source