Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.M41L
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UBA1

NM_003334.4:p.M41L

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

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

Hoff FW et al.

British Journal of Haematology, 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

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

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

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

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Bonet N et al.

Journal of Clinical Immunology, 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

Emerging insights into mosaic errors of immunity.

Roosens W et al.

Trends in Immunology, 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

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

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

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

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome.

Mizumaki H et al.

Nature Communications, 2025

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Altered IgG4 serum levels in VEXAS syndrome - a retrospective monocentric cohort study.

Saur SJ et al.

Rheumatology International, 2025

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases.

Mizes A et al.

Jaad Case Reports, 2025

[VEXAS- NEWLY REPORTED SYNDROME WITH OCULAR MANIFESTATIONS: CASE REPORT].

Abumanhal M et al.

Harefuah, 2025

Treatment experiences with focus on IL-6R inhibition in patients with VEXAS syndrome and a case of remission with azacytidine treatment.

Johansen MM et al.

Rheumatology (oxford, England), 2025

Neurological manifestations in patients with VEXAS syndrome.

Bert-Marcaz C et al.

Journal of Neurology, 2025

Novel use of Siltuximab in a patient with VEXAS Syndrome.

Cáceres-Nazario B et al.

Annals of Hematology, 2025

VEXAS Syndrome: Histiocytoid Cells With Feathery Cytoplasm as a Clue to the Diagnosis.

Ko CJ et al.

Journal of Cutaneous Pathology, 2025

Concurrent inhibited erythropoiesis in a case of VEXAS syndrome.

Xing L et al.

Annals of Hematology, 2025

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome: A Diagnostic and Therapeutic Conundrum.

Miranda S et al.

Cureus, 2025

Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.

Perez SM et al.

Journal of Developmental Biology, 2025

A Japanese case of VEXAS syndrome after COVID-19 vaccination: Comparison with previously reported cases.

Miyagi Y et al.

Modern Rheumatology Case Reports, 2025

VEXAS syndrome: an adult-onset autoinflammatory disorder with underlying somatic mutation.

Kötter I et al.

Current Opinion in Rheumatology, 2025

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.

Gurnari C et al.

British Journal of Haematology, 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."