Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.M41V
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UBA1

NM_003334.4:p.M41V

Associated Papers

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

Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study.

Eviatar T et al.

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

VEXAS syndrome with cochleovestibular involvement.

Fujiwara K et al.

Auris, Nasus, Larynx, 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

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

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.

Jin X et al.

Frontiers in Immunology, 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

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

Bourguiba R et al.

Journal of Internal Medicine, 2025

A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome.

Wilson C et al.

Cureus, 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

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

Subconjunctival Lesion in VEXAS Syndrome: Expanding the Ocular Disease Spectrum.

Paris J et al.

Ophthalmic Plastic and Reconstructive Surgery, 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 caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis.

Tang Y et al.

Genes & Diseases, 2025

Delayed onset vacuoles in a confirmed case of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.

Deering S et al.

British Journal of Haematology, 2025

Prevalence and outcome of VEXAS syndrome in unrelated hematopoietic cell transplantation for bone marrow failure.

Zaimoku Y et al.

Clinical and Experimental Medicine, 2025

Ocular Features of VEXAS Syndrome: A Systematic Review and Meta-analysis.

Quigley C et al.

American Journal of Ophthalmology, 2025

Characterization of E1 enzyme dependencies in mutant-UBA1 human cells reveals UBA6 as a novel therapeutic target in VEXAS syndrome.

Clough CA et al.

Leukemia, 2025

VEXAS syndrome with eosinophilia and pathologically mimicking histiocytosis: a case report.

Murai Y et al.

Modern Rheumatology Case Reports, 2025

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.

Fiumara M et al.

Expert Review of Hematology, 2025

Kidney involvement in VEXAS syndrome: insights from a rare case of secondary amyloidosis and systematic review of renal biopsy-confirmed reports.

Ştefan G et al.

Clinical Rheumatology, 2025

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome Presenting With Bicytopenia and Vasculitis.

Monge J et al.

Cureus, 2025

Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry.

Kirino Y et al.

Rheumatology (oxford, England), 2025

VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

García-Escudero P et al.

Rheumatology (oxford, England), 2025

Therapeutic Challenges in the Management of VEXAS Syndrome: A Case Report.

Kelly G et al.

The Australasian Journal of Dermatology, 2025

Mechanisms of hematopoietic clonal dominance in VEXAS syndrome.

Molteni R et al.

Nature Medicine, 2025

Rapid Screening and Monitoring of UBA1 Mutations in VEXAS Syndrome.

Martín Castillo I et al.

The Journal of Molecular Diagnostics : Jmd, 2025

VEXAS syndrome: A newly identified X-Linked hematoinflammatory disorder - A comprehensive overview of its genetic, molecular, inflammatory, and clinical landscape.

Singh A et al.

Journal of Autoimmunity, 2025

Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid-Lineage Hematologic Abnormality.

Di Centa L et al.

Acr Open Rheumatology, 2025

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome With Multisystem Involvement: Imaging and Genetic Insights From a Case Report.

Arsenault LE et al.

Cureus, 2025

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