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]

open access: yesEJHaem
Exposito-Bey A   +4 more
europepmc   +1 more source

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

open access: yesClin Exp Med
Zaimoku Y   +31 more
europepmc   +1 more source

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

open access: yes, 2020
Beck, D   +60 more
openaire   +1 more source

Three UBA1 clones for a unique VEXAS syndrome

Rheumatology, 2023
Dear 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
openaire   +2 more sources

The functional role of UBA1 cysteine-278 in ubiquitination

Biochemical and Biophysical Research Communications, 2012
Although 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
openaire   +2 more sources

Pathogenic UBA1 variants define a subset of relapsing polychondritis

Nature Reviews Rheumatology, 2021
Two 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.
openaire   +2 more sources

Home - About - Disclaimer - Privacy