Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.S56F
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UBA1

NM_003334.4:p.S56F

Associated Papers

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

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

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

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

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

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

Fiumara M et al.

Expert Review of Hematology, 2025

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

Kelly G et al.

The Australasian Journal of Dermatology, 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

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

Perez SM et al.

Journal of Developmental Biology, 2025

VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management.

Costa A et al.

Annals of Hematology, 2025

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature.

Alnahas Z et al.

Open Access Rheumatology : Research and Reviews, 2025

VEXAS: A review of current understandings and emerging treatment strategies.

Holden R et al.

Frontiers in Immunology, 2025

Clinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries.

Caggiano V et al.

Frontiers in Medicine, 2025

S56F UBA1 variant: a VEXAS syndrome subtype that follows its own path.

Rieu JB et al.

Blood, 2024

VEXAS Syndrome: A Comprehensive Review of Current Therapeutic Strategies and Emerging Treatments.

Alqatari S et al.

Journal of Clinical Medicine, 2024

Role of allogeneic hematopoietic cell transplantation in VEXAS syndrome.

Dias AL et al.

Annals of Hematology, 2024

Allogenic haematopoietic stem cell transplantation in VEXAS: A review of 33 patients.

Ali SB et al.

Clinical Rheumatology, 2024

VEXAS without vacuoles: Linking genotype to phenotype.

Zhukovsky S et al.

Ejhaem, 2024

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront.

Li XX et al.

Molecular Medicine (cambridge, Mass.), 2024

Trismus as a new feature of VEXAS syndrome.

Archambeaud A et al.

Rheumatology (oxford, England), 2024

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic): clinical review in a rapidly emerging field.

Phan L et al.

Leukemia & Lymphoma, 2024

How I diagnose and manage VEXAS syndrome.

Hagiya A et al.

American Journal of Clinical Pathology, 2024

Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.

Kouranloo K et al.

Rheumatology International, 2024

VEXAS syndrome: An update.

Khitri MY et al.

Joint Bone Spine, 2024

Distinct bone marrow findings associated with a noncanonical UBA1 variant in VEXAS syndrome.

Allison DR et al.

American Journal of Hematology, 2024

VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort.

Corty RW et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

Shared and distinct mechanisms of UBA1 inactivation across different diseases.

Collins JC et al.

The Embo Journal, 2024

VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.

Saad AJ et al.

Experimental Dermatology, 2024

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