Results 81 to 90 of about 3,775 (171)

VEXAS Syndrome and Alzheimer’s Disease—Are There Connections?

Brain Sciences
VEXAS syndrome and Alzheimer’s disease (AD), though distinct in clinical manifestations, share overlapping pathophysiological mechanisms, including systemic inflammation, protein misfolding, and vascular dysfunction.
Aleksandra Sowa, Marta Malicka, Magdalena Biernacka, Jan Aleksander Beszłej, Jerzy Leszek   +4 more
doaj   +1 more source

VEXAS syndrome in a female with constitutional monosomy X

EULAR Rheumatology Open
: The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 gene in haematopoietic progenitor cells and predominantly affects elderly males. However,
Nikolas Ruffer, Simon Melderis, Olaf Determann, Lana Harder, Isabell Haase, Ina Kötter, Anja Lüdemann, Martin Krusche   +7 more
doaj   +1 more source

Poster Sessions

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

SF3B1 -mutant mis-splicing of UBA1 confers a targetable therapeutic vulnerability through UBA1 inhibition

Abstract SF3B1 mutation-driven myelodysplastic syndromes (MDS- SF3B1 ) arise due to somatic mutation in the splicing factor SF3B1 gene.
Jonas Thier, Sophia Hofmann, Katharina M Kirchhof, Gabriele Todisco, Teresa Mortera-Blanco, Indira Barbosa, Ann-Charlotte Björklund, André G Deslauriers, Elli Papaemmanuil, Eirini P Papapetrou, Eva Hellström-Lindberg, Pedro L Moura, Vanessa Lundin   +12 more
openaire   +1 more source

Publication Only

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

Downregulation of UBA1 expression in myelodysplastic neoplasm

Leukemia
Yue Wei, Hong Zheng, Ziyi Li, Pamela Pennington Lockyer, Faezeh Darbaniyan, Rashmi Kanagal-Shamanna, Hui Yang, Danielle Hammond, Guillermo Garcia-Manero   +8 more
openaire   +2 more sources

P075 | ERYTHROID STIMULATING AGENTS IN VEXAS SYNDROME: A MULTICENTER RETROSPECTIVE STUDY OF AN ITALIAN VEXAS COHORT

Haematologica
Background: VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an autoinflammatory disorder caused by UBA1 mutation. It manifests with inflammatory symptoms and commonly macrocytic anemia, which in up to 50% of cases meets WHO ...
G. Furnari, E. Diral, C. Campochiaro, F. Moretti, J. Ferrari, C. Elena, G. Battipaglia, S. Barbato, A. Vitale, M. Frigeni, F. Crisafulli, M. Frassi, C. Papayannidis, A. D. Romagnoli, C. Cattaneo, A. D’ambrosio, E. Morsia, P. Musto, G. Rivoli, M.E. Dragani, C. Toffalori, G.M. Bergonzi, G. Scorpio, A. Tomelleri, M.T. Voso, C. Gurnari, L. Vago, L. Dagna, F. Ciceri   +28 more
doaj  

<i>UBA1-CDK16</i>: A female-specific chimeric RNA emerging through evolution and involved in immune regulation. [PDF]

Sci Adv
Shi X, Blackburn L, Singh S, Glowczyk-Gluc M, Tajammal A, Zahra S, Kumar S, Cornelison R, Liang C, Qin F, Liu A, Lin S, Tang Y, Elfman J, Manley T, Bullock T, Haverstick DM, Wu P, Li H.   +18 more
europepmc   +1 more source

VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort. [PDF]

J Hematop
Chinnam D, Kerkar A, Gulati R, Bhatia P, Sreedharanunni S, Sharma P, Singh M, Shah S, Baskaran N, Puligari R, Ganju NA, Mruthyunjaya P, K S L, Bishnoi A, De D, Veeravalli SCM, Khushoo V, Ganju AK, Padhan P, Antony P, Gupta V, Balakrishnan A, Sharma A, Gupta DG, Sharma A, Malhotra P.   +25 more
europepmc   +1 more source

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature

Open Access Rheumatology: Research and Reviews
Zeinab Alnahas,1 Sujata Sarkar,1 Kevin T Trowell,1 Lisa Soltani,2 Sreekanth Vasireddy1 1Tucson Medical Center, Tucson, AZ, USA; 2El Rio Community Health Center, Tucson, AZ, USACorrespondence: Zeinab Alnahas, Tucson Medical Center, 5301 E Grant Road ...
Alnahas Z, Sarkar S, Trowell KT, Soltani L, Vasireddy S   +4 more
doaj