Results 11 to 20 of about 2,418 (172)

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

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

Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes [PDF]

Blood
Abstract Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of
Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R. Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström-Lindberg, Elli Papaemmanuil   +59 more
core   +12 more sources

Characterization of ubiquitin-activating enzyme Uba1 in the nucleus by its mammalian temperature-sensitive mutant. [PDF]

PLoS ONE, 2014
Temperature-sensitive (ts) CHO-K1 mutant tsTM3 exhibits chromosomal instability and cell-cycle arrest in the S to G2 phases with decreased DNA synthesis at the nonpermissive temperature, 39°C.
Kimihiko Sugaya, Kimihiko Sugaya, Yoshie Ishihara, Sonoe Inoue, Hideo Tsuji   +4 more
doaj   +3 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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden [PDF]

Arthritis and Rheumatology
Objective Vacuoles, E1‐ubiquitin–activating enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome is a progressive systemic autoinflammatory disorder caused by somatic variants in UBA1 in blood.
Meghan Anderson, Ashley Richardson, Eitan Carroll   +2 more
exaly   +4 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   +4 more sources

Chronic anemia and unexplained inflammation:think of VEXAS syndrome [PDF]

, 2023
BACKGROUND: VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1. CASE DESCRIPTION: In this manuscript we describe a 79-year-old male suffering from skin lesions, macrocytic anemia and lab ...
van Daele, Paul L.A., van der Made, Caspar I., Rutgers, Abraham Bram, Hak, A. E.Liesbeth, Potjewijd, Judith, Leavis, Helen L.   +5 more
core   +15 more sources

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

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   +3 more sources

How Protein Ubiquitination Can Influence Cytokine Expression—Updated Review on Autoinflammatory VEXAS Syndrome

Immuno
VEXAS syndrome is a new disease entity with symptoms that can mimic hematological, rheumatic and dermatological diseases. It is important to take a multidisciplinary approach to patient care, taking into account genetic testing, in which the presence of ...
Dominika Majer, Matylda Kujawińska, Piotr Limanówka, Łukasz Sędek   +3 more
doaj   +2 more sources

VEXAS syndrome: a new discovered systemic rheumatic disorder

Rheumatology, 2023
VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients.
Eugeniusz Józef Kucharz
doaj   +2 more sources