Results 71 to 80 of about 2,299 (157)

Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review

Cells
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD).
Louis Wolff, Leo Caratsch, Lin-Pierre Zhao, Sabine Blum, Denis Comte   +4 more
doaj   +1 more source

Macrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS‐linked UBA1 mutations

HemaSphere, Volume 10, Issue 7, July 2026.
Verena Petzer, Wolfram Mayr, Eva Spoegler, Emina Jukic, Christoph Winkler, Verena Vogi, Normann Steiner, Christina Duftner, Andrea Griesmacher, Günter Weiss, Dominik Wolf, Florian Kocher, David Haschka   +12 more
wiley   +1 more source

Rapid growth of acquired UBA1 mutations predisposes male patients to low-risk MDS

Leukemia
Abstract VEXAS (vacuoles, E1-ubiquitin-like modifier activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory disorder caused by acquired UBA1 mutations in hematopoietic precursor cells. The prevalence, clinical significance, and genomic landscape of UBA1variants in patients with hematologic ...
Peng Li, F. N. U. Alnoor, Wei Xie, Margaret Williams, Julie Feusier, Yi Ding, Xiangrong Zhao, Gang Zheng, Chen Zhao, Arthur W. Zieske, Youli Zu, Philipp W. Raess, Srinivas Tantravahi, Afaf Osman, Ami B. Patel, Tsewang Tashi, Jay L. Patel, Anna P. Matynia, Madhu P. Menon, Rodney R. Miles, Jeffrey R. Jacobsen, Tracy I. George, Douglas W. Sborov, Philippe Szankasi, Paul Rindler, Devin Close, Robert S. Ohgami   +26 more
openaire   +2 more sources

Skin Manifestations in VEXAS Syndrome: Specific Clonal Infiltrates versus Non-Specific Reactive Findings

Case Reports in Dermatology
Introduction: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a myeloid-driven, adult-onset inflammatory syndrome associated with hematological neoplasms and a wide range of manifestations, including fever, pancytopenia ...
Samuel Utz, Mathias Lehmann, S. Morteza Seyed Jafari, Nicolas Bonadies, Fabian Lötscher, Britta Maurer, Luca Seitz, Erik Vassella, Ronald Wolf, Luca Borradori, Laurence Feldmeyer   +10 more
doaj   +1 more source

Novel Use of Siltuximab in a Patient with Somatic UBA1 Mutated VEXAS Syndrome

Abstract VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an increasingly recognized disorder that occurs due to somatic mutations of a ubiquitin-activating enzyme encoded by ubiquitin-like modifier activating enzyme 1 gene, UBA1.
Beatriz Cáceres-Nazario, Joshua Rivenbark, Manish K. Saha, Stephanie Mathews, Samuel M. Rubinstein   +4 more
openaire   +1 more source

Analysis of a temperature‐sensitive mutation in Uba1: Effects of the click reaction on subsequent immunolabeling of proteins involved in DNA replication

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, Yoshie Ishihara, Sonoe Inoue   +2 more
openaire   +3 more sources

P14 | A rare case of VEXAS syndrome

Italian Journal of Medicine
Premises: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a rare late-onset autoinflammatory syndrome caused by a mutation in the UBA1 gene.
doaj   +1 more source

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront

Molecular Medicine
VEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations.
Xiao Xiao Li, Wen Hui Huang, Xiao Bin Yang, Qi Lin Yang, Yu Zheng, Yong Bao Huo, Ting Ting Xie, Cheng Hui Huang, Shui Lian Yu   +8 more
doaj   +1 more source

Clinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries

Frontiers in Medicine
BackgroundA substantial overlap in demographic, clinical, and laboratory features can complicate the differential diagnosis between Schnitzler's syndrome and VEXAS syndrome.
Valeria Caggiano, Valeria Caggiano, Jessica Sbalchiero, Jessica Sbalchiero, Micol Frassi, Eduardo Martín-Nares, Andrea Hinojosa-Azaola, Mariusz Sikora, Karina Jahnz-Różyk, Francesca Crisafulli, Franco Franceschini, Paolo Airò, Guillermo Arturo Guaracha-Basañez, Jiram Torres-Ruiz, Paolo Sfriso, Sara Bindoli, Chiara Baggio, José Hernández-Rodríguez, Verónica Gómez Caverzaschi, Gerard Espinosa, Henrique A. Mayrink Giardini, Rafael Alves Cordeiro, Andrés González-García, Mercedes Peña Rodríguez, Giuseppe Lopalco, Florenzo Iannone, Ombretta Viapiana, Abdurrahman Tufan, Hamit Kucuk, Pravin Hissaria, Pravin Hissaria, Mark Beecher, Mark Beecher, Amato De Paulis, Amato De Paulis, Ilaria Mormile, Lorenzo Dagna, Lorenzo Dagna, Corrado Campochiaro, Corrado Campochiaro, Antonio Gidaro, Leyla La Cava, Serena Bugatti, Serena Bugatti, Alessandra Milanesi, Alessandra Milanesi, Guillermo Ruiz-Irastorza, Guillermo Ruiz-Irastorza, Matteo Piga, Fabrizio Conti, Paolo Moscato, Daniela Opris-Belinski, Rosetta Vitetta, Cecilia Chighizola, Andreas Recke, Andreas Recke, Fernando Tornero-Romero, Marcella Prete, Marcello Govoni, Giacomo Emmi, Giacomo Emmi, Giacomo Emmi, Perla Ayumi Kawakami-Campos, Paola Triggianese, Paola Triggianese, Carmelo Gurnari, Carmelo Gurnari, Gaafar Ragab, Gaafar Ragab, Alberto Balistreri, Alberto Balistreri, Marcin Ziȩtkiewicz, Marcin Ziȩtkiewicz, Ewa Wiesik-Szewczyk, Bruno Frediani, Bruno Frediani, Claudia Fabiani, Claudia Fabiani, Anna Sicuranza, Anna Sicuranza, Monica Bocchia, Monica Bocchia, Luca Cantarini, Luca Cantarini, Antonio Vitale, Antonio Vitale   +85 more
doaj   +1 more source

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome

HemaSphere, 2023
Alyx Faurel, Maël Heiblig, Olivier Kosmider, Jérôme Cornillon, Laurence Boudou, Denis Guyotat, Jean-Alain Martignoles, Yvan Jamilloux, Pauline Noyel, Elisabeth Daguenet, Anne-Camille Faure, Pierre Sujobert, Pascale Flandrin-Gresta   +12 more
openaire   +3 more sources