Uba1 mutation - Open Access .click

Results 71 to 80 of about 2,418 (172)

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

Allergy, EarlyView.
Yuyi Zhou +10 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 +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 +51 more
wiley +1 more source

Mutation in E1, the Ubiquitin Activating Enzyme, dominantly reduces lifespan.

, 2013
(A, C, E) Graphs showing the percentage of (A, E) male and (C) female flies surviving versus time in days for wild-type +/+ control flies (open circles, black A, C, E) and for flies carrying one mutant copy of E1 (open squares).
Hsiu-Yu Liu (286342), Cathie M. Pfleger (286345) +1 more
core +1 more source

Évaluation d’un test de dépistage du syndrome VEXAS à partir de l’entrepôt de données biomédicales du CHU de Bordeaux. Application en Rhumatologie

, 2023
Introduction: VEXAS syndrome is an acquired monogenic auto-inflammatory disease linked to a mutation in the UBA1 gene discovered in 2020. This disease, which has a poor prognosis in the absence of treatment, combines systemic autoinflammatory disorders ...
Hamon, Alexis
core

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome

International Journal of Laboratory Hematology, EarlyView.
Andrew Y. Sung +4 more
wiley +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 +13 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 +6 more
doaj +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, Volume 78, Issue 3, Page 509-522, March 2026.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian +111 more
wiley +1 more source

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Blood, 2022
Maria Sirenko +52 more
openaire +2 more sources

vexas syndrome
vexas
uba1

myelodysplastic syndrome
autoinflammatory disease
autoinflammation

somatic mutations
autoinflammatory diseases
uba1 gene