Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.M41T
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UBA1

NM_003334.4:p.M41T

Associated Papers

A fatal case of VEXAS syndrome with a brief review.

Stoltman G et al.

Journal of Vascular Surgery Cases and Innovative Techniques, 2026

Genome Instability and Somatic Mutagenesis in Autoimmune Diseases.

Vijayraghavan S et al.

Cancers, 2026

Disease Trajectories and Glucocorticoid Exposure in VEXAS Syndrome Treated with Cytokine-Directed Therapies.

Turturice BA et al.

Annals of the Rheumatic Diseases, 2026

Clinicopathological Challenge: Fixed Urticaria-Like Pink Papules in a Patient With Recurrent Fevers and Arthralgias.

Williams MCG et al.

International Journal of Dermatology, 2026

Hemi-Orolingual Angioedema in a Patient With VEXAS Syndrome.

Suárez EU et al.

Ejhaem, 2026

VEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.

Gavioli F et al.

Seminars in Arthritis and Rheumatism, 2026

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review.

Hoff FW et al.

British Journal of Haematology, 2026

Periorbital oedema, trismus, myalgia as muscular manifestations of VEXAS syndrome: a case report and narrative literature review.

Archambeaud A et al.

Rheumatology (oxford, England), 2026

VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.

Groarke EM et al.

Lancet (london, England), 2026

A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report.

Shahverdi E et al.

The American Journal of Case Reports, 2026

Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management.

Fiumara M et al.

Current Opinion in Rheumatology, 2026

Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.

Martinez Rodriguez A et al.

British Journal of Haematology, 2026

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.

Anderson M et al.

Arthritis & Rheumatology (hoboken, N.j.), 2026

Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome.

Narendra VK et al.

Nature, 2026

VEXAS syndrome presenting with features of Sjögren's disease: a case-based review of VEXAS and autoimmune disease overlap.

Groener M et al.

Clinical Rheumatology, 2026

A rare case of VEXAS syndrome.

Gupta K et al.

Rheumatology Advances in Practice, 2026

Bone marrow vacuolization to curative strategies: Evolving paradigms in VEXAS syndrome management.

Elbadry MI et al.

Current Research in Translational Medicine, 2025

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.

Sakuma M et al.

Leukemia, 2025

Primary CD34+ cells of patients with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome are highly sensitive to targeted treatment with TAK-243.

Nowak D et al.

British Journal of Haematology, 2025

Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing.

Exposito-Bey A et al.

Ejhaem, 2025

UBA1-depleted neutrophils disrupt immune homeostasis and induce VEXAS-like autoinflammatory disease in mice.

Dong G et al.

The Journal of Clinical Investigation, 2025

Characterizing VEXAS syndrome in women: Findings from an international multicenter study.

Bourguiba R et al.

Journal of Internal Medicine, 2025

Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.

Lin K et al.

Clinical Reviews in Allergy & Immunology, 2025

Interval Changes in Hematopoietic Vacuolization in VEXAS Syndrome with M41T Mutation: Insights into Diagnosis and Disease Progression.

Lee HW et al.

Clinical Laboratory, 2025

Developing efficient predictive models for the diagnosis of VEXAS syndrome.

Montes D et al.

Seminars in Arthritis and Rheumatism, 2025

VEXAS syndrome and immune-mediated rheumatic diseases: overlaps in clinical features and mechanisms.

Kaul A et al.

The Lancet. Rheumatology, 2025

[VEXAS syndrome].

Krusche M et al.

Zeitschrift Fur Rheumatologie, 2025

Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score.

von Bornemann Fløe L et al.

Journal of Clinical Immunology, 2025

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.

Ramakrishna C et al.

Practical Neurology, 2025

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

From diagnostic uncertainty to targeted therapy: a case-based review of VEXAS syndrome.

Rana G et al.

Rheumatology International, 2025

VEXAS syndrome.

Nakajima H et al.

International Journal of Hematology, 2025

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis.

Tang Y et al.

Genes & Diseases, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."