Results 81 to 90 of about 3,419 (164)

Évaluation d’un test de dépistage du syndrome VEXAS à partir de l’entrepôt de données biomédicales du CHU de Bordeaux. Application en Rhumatologie

, 2023
Introduction: VEXAS syndrome is an acquired monogenic auto-inflammatory disease linked to a mutation in the UBA1 gene discovered in 2020. This disease, which has a poor prognosis in the absence of treatment, combines systemic autoinflammatory disorders ...
Hamon, Alexis
core  

Inappropriate Ras activation in the brains of E1 homozygous mutant.

, 2013
Argos is a high threshold target of Ras signaling. Expression of argos can be monitored using an argos-lacZ reporter. Upon high Ras activation, lacZ is transcribed in the pattern of argos and the gene product can be detected using immunohistochemical ...
Hsiu-Yu Liu (286342), Cathie M. Pfleger (286345)   +1 more
core   +1 more source

A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report

Journal of Medical Case Reports
Introduction VEXAS syndrome, characterized by a UBA1 gene mutation, is a rare and severe systemic inflammatory disease predominantly affecting men. Since its initial description in 2020, it has been noted for its broad clinical phenotype and frequent ...
Melanie Berger, Falk Schumacher, Maximilian Wollsching-Strobel, Doreen Kroppen, Sarah B. Stanzel, Daniel S. Majorski, Kathrin Fricke, Ilka Plath, Wolfram Windisch, Maximilian Zimmermann   +9 more
doaj   +1 more source

Síndrome VEXAS con vasculitis leucocitoclástica

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), first described in 2020, is a monogenic autoinflammatory disease caused by somatic mutations in the UBA1 gene, located on the X chromosomeand therefore predominantly expressed in ...
Trujillo-Aguilera, Antonio, Soriano-Gandullo, Silvia, Arenas-Montes, Javier, Aguilar-Alba, Salvador, Cortés-Rodríguez, Begoña   +4 more
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms

Myelodysplastic syndromes with somatic mutations in the splicing factor SF3B1 gene (MDS-SF3B1) result in RNA mis-splicing, erythroid dysplasia and ultimately refractory anemia.
Elli Papaemmanuil (6499196), Nikolas Herold (18664402), Dimitris Kanellis (18680989), Jonas Thier (22135540), Sophia Hofmann (19569301), Eirini P Papapetrou (21670556), Vanessa Lundin (224979), Ingrid Lilienthal (481336), Pedro L Moura (22135561), Indira Barbosa (22135552), Katharina M Kirchhof (22135543), Teresa Mortera-Blanco (22135549), André G Deslauriers (22135558), Eva Hellström-Lindberg (89573), Ann-Charlotte Björklund (22135555), Jiri Bartek (138045), Gabriele Todisco (22135546)   +16 more
core  

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

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Efficient enrichment of seamlessly gene-edited HSPCs by targeted integration into haploinsufficient genes.

reservedPreclinical data in mouse models and occurrence of adverse events in some clinical trials have shown that random integration of strong promoters by viral vectors can be unpredictably genotoxic.
RUSSO, DARIO
core  

VEXAS syndrome in rheumatology practice: features from a multicenter cohort in north-east Italy

Frontiers in Immunology
ObjectiveVEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a late-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene.
Sara Bindoli, Sara Bindoli, Greta Morello-Pasin, Greta Morello-Pasin, Irina Guidea, Irina Guidea, Roberto Padoan, Luca Iorio, Luca Iorio, Riccardo Bixio, Riccardo Bixio, Giovanni Orsolini, Federica Maiolini, Sara Lombardi, Sandra Lombardi, Marta Favero, Marta Favero, Cristina Bernardi, Bernd Raffeiner, Andrea Doria, Andrea Doria, Roberta Ramonda, Roberta Ramonda, Paolo Sfriso, Paolo Sfriso   +24 more
doaj   +1 more source