Results 21 to 30 of about 2,418 (172)
FEBS Open Bio, 2015 In our previous study, a Met‐to‐Ile substitution at amino acid 256 in the catalytic domain of Uba1 was determined in temperature‐sensitive CHO‐K1 mutant tsTM3 cells, which exhibited chromosomal instability and cell‐cycle arrest in the S to G2 phases with decreased DNA synthesis at the nonpermissive temperature, 39 °C.
Kimihiko Sugaya +2 more
core +5 more sources
VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases
JAAD Case ReportsAlicia Mizes, MD +2 more
doaj +5 more sources
Case report: VEXAS syndrome and literature review [PDF]
Frontiers in HematologyVEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene.
Can Jones +7 more
doaj +2 more sources
VEXAS Syndrome Presenting With Pleuritis [PDF]
Clinical Case ReportsElderly men with pleuritis, systemic inflammation, cytopenias, and bone‐marrow vacuolization may have VEXAS due to somatic UBA1 mutations. Pulmonary involvement, including pleuritis, can be a key presentation despite the absence of classic chondritis ...
Makoto Ito +4 more
doaj +2 more sources
Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD [PDF]
Frontiers in ImmunologyVEXAS syndrome (‘Vacuoles’, ‘E1 enzyme’, ‘X-linked’, ‘Autoinflammatory’ and ‘Somatic’) is a rare autoinflammatory disorder caused by somatic mutations in the UBA1 (ubiquitin-like modifier-activating enzyme 1) gene whose treatment and prognosis remain ...
Marta Fonseca-Santos +74 more
doaj +2 more sources
VEXAS: A review of current understandings and emerging treatment strategies [PDF]
Frontiers in ImmunologyVEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a late-onset autoinflammatory disorder, typically affecting males, caused by somatic mutations in the X-linked gene UBA1 encoding the E1 ubiquitin-activating enzyme.
Robert Holden +5 more
doaj +2 more sources
Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement [PDF]
Frontiers in ImmunologyVEXAS syndrome is a rare and severe systemic inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene, primarily affecting men. Since its initial description in 2020, it has been recognized for its complex clinical phenotype and ...
Zhongbiao Fang +13 more
doaj +2 more sources
Rare primary vasculitis: update on multiple complex diseases and the new kids on the block
Advances in RheumatologySystemic vasculitis is a group of rare diseases that share an essential characteristic: inflammation of blood vessel walls. This injury occurs during the disease course, but specific features vary for each entity.
Joao Gabriel Dantas +3 more
doaj +2 more sources
Somatic Mutation in UBA1 and ANCA-associated Vasculitis [PDF]
The Journal of Rheumatology, 2021 VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was recently discovered in 25 men with late-onset severe and refractory inflammatory syndromes and associated hematologic abnormalities. Various diseases have been described, such as relapsing polychondritis, myelodysplastic syndrome, polyarteritis nodosa, and giant cell ...
Carolyn Ross +2 more
openaire +2 more sources
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome [PDF]
Blood, 2021 Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.
James A. Poulter +14 more
openaire +3 more sources