Results 111 to 120 of about 6,714 (194)

SF3B1-mutant mis-splicing ofUBA1confers a targetable therapeutic vulnerability through UBA1 inhibition

AbstractSF3B1mutation-driven myelodysplastic syndromes (MDS-SF3B1) arise due to somatic mutation in the splicing factorSF3B1gene.SF3B1mutations induce RNA mis-splicing and loss of expression of critical genes for erythropoiesis, leading to erythroid dysplasia and ultimately refractory anemia.
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

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

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

Relativity Theory Refounded

, 2015
We put forward a new view of relativity theory that makes the existence of a flow of time compatible with the four-dimensional block universe. To this end, we apply the creation-discovery view elaborated for quantum mechanics to relativity theory and in ...
Aerts, Diederik
core  

The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report

Journal of Investigative Medicine High Impact Case Reports
VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological ...
Jowan Al-Nusair, Olivia Lim, Leena Alhusari, Abdelwahap Elghezewi, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles   +6 more
doaj   +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  

Unmasking Vexas Syndrome: A Rare Case with Crescentic Glomerulonephritis. [PDF]

Eur J Case Rep Intern Med
Shah T.
europepmc   +1 more source

Ubiquitin-like modifier activating enzyme 1 (UBA1) [PDF]

Science-Business eXchange, 2010
openaire   +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