Results 1 to 10 of about 4,126 (198)

A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome [PDF]

Human Genome Variation
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway.
Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi   +8 more
doaj   +6 more sources

De-escalation of corticosteroids and clonal remission in UBA1 mutation-driven VEXAS syndrome with 5-azacytidine [PDF]

Haematologica
Not available.
Roochi Trikha, Kar Lok Kong, James Galloway, Tanya N. Basu, Lynn Quek, Jamie Wilson, Louise Gamble, Henna Wong, Steven Best, Austin Kulasekararaj   +9 more
doaj   +7 more sources

Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study. [PDF]

J Thromb Haemost, 2022
Khider L, Templé M, Bally C, Spaeth A, Darnige L, Sanchez O, Planquette B, Mortelette H, Messas E, Smadja DM, Emmerich J, Mirault T, Kosmider O, Gendron N.   +13 more
europepmc   +7 more sources

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis [PDF]

Orphanet Journal of Rare Diseases
Background Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations.
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming Xu   +12 more
doaj   +4 more sources

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations. [PDF]

Leukemia
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe inflammatory and hematologic disease caused by somatic mutations in UBA1 . Canonical pathogenic mutations at UBA1 p.Met41 (M41) lead to the ...
Sakuma M, Wang AK, Magaziner SJ, Keane SP, Meggendorfer M, Kern W, Haferlach C, Haferlach T, Beck DB, Walter W.   +9 more
europepmc   +4 more sources

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis [PDF]

Genes and Diseases
Yu Tang, Hongfei Cui, Hongjun Zhao, Hui Luo, Xiaoxia Zuo, Junjiao Wu   +5 more
doaj   +4 more sources

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome

Practical Laboratory Medicine
Objectives: Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.M41V (c.121A > G), and p.M41L (c.121A > C) in codon 41 of exon 3.
Yunqing Ma, ShianPin Hu, Rui Ni, Wei Liu, Andrew Fu, Michael Sha, Aiguo Zhang, Chuanyi M. Lu   +7 more
doaj   +6 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, Hannah Laure Elfassy, Jean‐Paul Makhzoum   +2 more
openalex   +3 more sources

Rapid cutaneous remission response to tofacitinib and systemic corticosteroids in VEXAS syndrome with a novel UBA1 mutation [PDF]

JAAD Case Reports
Zehai Wang, BA, Hui Shi, MD, Yanyun Jiang, MD   +2 more
doaj   +3 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, Jason C. Collins, Catherine Cargo, Ruth M. de Tute, Paul Evans, Daniela Ospina Cardona, David Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic   +14 more
openalex   +5 more sources