Results 101 to 110 of about 6,714 (194)

Safety and effectiveness of the combination of 5‐azacitidine and ruxolitinib in VEXAS syndrome: A single‐centre experience

British Journal of Haematology, Volume 208, Issue 3, Page 1133-1137, March 2026.
Gregorio Maria Bergonzi, Enrico Cozzo, Alessandro Tomelleri, Costanza Piccolo, Gianluca Scorpio, Carmelo Gurnari, Francesca Romano, Marco Matucci‐Cerinic, Lorenzo Dagna, Massimo Bernardi, Luca Vago, Fabio Ciceri, Corrado Campochiaro, Elisa Diral   +13 more
wiley   +1 more source

VEXAS Syndrome and Substance Use Disorders: A Large‐Scale, Propensity‐Matched, Case‐Control Analysis Revealing Immune‐Mediated Comorbidities

International Journal of Dermatology, Volume 65, Issue 3, Page 584-586, March 2026.
Kritin K. Verma, Kevin T. Nguyen, Daniel P. Friedmann, Helen Chen, Michelle B. Tarbox   +4 more
wiley   +1 more source

Case report: VEXAS syndrome: first documented cases in Latin America

Frontiers in Hematology
IntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati, Inés Gervaz, Inés Gervaz, Martín Yandian, Martín Yandian, Matilde Boada, Matilde Boada, Gabriela Vidal-Senmache, Percy Ortiz-Guerra, Ana I. Catalán, Patricia Kutscher, Diego Lopez, Lilian Diaz, Sofia Grille, Sofia Grille   +14 more
doaj   +1 more source

A de novo evolved gene in the house mouse regulates female pregnancy cycles

, 2019
The de novo emergence of new genes has been well documented through genomic analyses. However, a functional analysis, especially of very young protein-coding genes, is still largely lacking.
Bekpen, C., Keshavarz, M., Krebs-Wheaton, R., Künzel, S., Skrabar, N., Tautz, D., Ullrich, K., Xie, C.   +7 more
core   +1 more source

Case report: VEXAS syndrome and literature review

Frontiers in Hematology
VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene.
Can Jones, Can Jones, Stanislav Ivanov, Pablo Ferraro, Pablo Ferraro, Souhad Younes, Souhad Younes, Hugo Fernandez   +7 more
doaj   +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
Kimihiko Sugaya, Yoshie Ishihara, Sonoe Inoue   +2 more
doaj   +1 more source

Current status and prospects of diagnosis and treatment of VEXAS syndrome [PDF]

Zhenduanxue lilun yu shijian
VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized autoinflammatory disease involving multiple systems, caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene.
QIAN Haozhou, CHANG Chunkang
doaj   +1 more source

Az UV-sugárzás által károsított DNS Rad6 ubiquitin-konjugáló enzim által irányított, mutációt okozó illetve hibamentes replikációja Saccharomyces cerevisiae-ben = The Rad6 ubiquitin-conjugating enzyme dependent error-free and error-prone translesion DNA synthesis of UV-damaged DNA in Saccharomyces cerevisiae [PDF]

, 2007
A környezetünkben jelenlévő és a metabolikusan keletkező reaktív ágensek is folyamatosan károsítják a DNS-t. A kijavítatlan DNS hibáknál elakadt replikációs villa mentésében játszik szerepet a RAD6-RAD18-függő DNS károsodást toleráló mechanizmus, mely ...
Haracska, Lajos, Unk, Ildikó
core  

Research Progress in VEXAS Syndrome

罕见病研究
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset, X-linked clonal autoinflammatory disease caused by somatic mutations in the UBA1 gene, characterized by systemic inflammation accompanied by hematologic clonal ...
JIN Xianghong, XU Jin, CHEN Miao, ZHUANG Junling, SHEN Min   +4 more
doaj   +1 more source

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