Results 131 to 140 of about 3,775 (171)
Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing. [PDF]
Exposito-Bey A +4 more
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Hemi-Orolingual Angioedema in a Patient With VEXAS Syndrome. [PDF]
Suárez EU +2 more
europepmc +1 more source
Prevalence and outcome of VEXAS syndrome in unrelated hematopoietic cell transplantation for bone marrow failure. [PDF]
Zaimoku Y +31 more
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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Beck, D +60 more
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Three UBA1 clones for a unique VEXAS syndrome
Rheumatology, 2023Dear Editor, The VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described autoinflammatory disease characterized by mutations in the E1 ubiquitin-activating enzyme encoded by the UBA1 gene [1]. Clinico-biological findings include haematological abnormalities, treatment-refractory inflammatory syndrome, skin ...
Podvin, Benjamin +7 more
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The functional role of UBA1 cysteine-278 in ubiquitination
Biochemical and Biophysical Research Communications, 2012Although total UBA1 levels were unchanged, after oxidation for 60 min, we observed dramatic changes in the levels of BIAM-labeled UBA1 in both the membrane and cytosol fractions that suggested oxidative stress induces translocation of UBA1 from the cytosol to the membrane.
Ung, Yang +3 more
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Pathogenic UBA1 variants define a subset of relapsing polychondritis
Nature Reviews Rheumatology, 2021Two new studies have identified mutations in UBA1 associated with the newly identified condition VEXAS syndrome in cohorts of patients with relapsing polychondritis, supporting the concept that relapsing polychondritis is more than one disease.
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Lycorine hydrochloride directly targets UBA1 to suppress cellular senescence
Jiaqing Yang, Zhiyong Mao, Guizhu Wu
exaly +4 more sources

