Results 41 to 50 of about 2,299 (157)

Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes

Blood
Abstract Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of
Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R. Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström-Lindberg, Elli Papaemmanuil   +59 more
openaire   +8 more sources

VEXAS Syndrome: A Novelty in MDS Landscape

Diagnostics, 2022
Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1 ...
Marie Templé, Olivier Kosmider
doaj   +1 more source

How Protein Ubiquitination Can Influence Cytokine Expression—Updated Review on Autoinflammatory VEXAS Syndrome

Immuno
VEXAS syndrome is a new disease entity with symptoms that can mimic hematological, rheumatic and dermatological diseases. It is important to take a multidisciplinary approach to patient care, taking into account genetic testing, in which the presence of ...
Dominika Majer, Matylda Kujawińska, Piotr Limanówka, Łukasz Sędek   +3 more
doaj   +1 more source

Recurrent superior orbital fissure syndrome associated with VEXAS syndrome

Journal of Ophthalmic Inflammation and Infection, 2023
Purpose To describe a case of recurrent orbital inflammation and superior orbital fissure syndrome associated with VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome. Case presentation VEXAS syndrome is a recently identified multi-
Katie Myint, Namritha Patrao, Oana Vonica, Kaveh Vahdani   +3 more
doaj   +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

RNF138‐Mediated Ubiquitination and Degradation of NS5 Restricts Tick‐Borne Encephalitis Virus Infection

Advanced Science, EarlyView.
Host‐specific compatibility between RNF138‐like proteins and flavivirus NS5 determines NS5 stability. Mammalian RNF138 but not arthropod homologs recognizes and induces conserved NS5/RdRp K48‐linked ubiquitination and proteasomal degradation, thereby restricting viral replication. Ectopic RNF138 in mice attenuates TBEV‐induced pathogenesis. (Created in
Jialiang Sun, Weijing Yang, Hao Zhou, Shuai Li, Xin Jiang, Jianyang Gu, Wenyan Zhang   +6 more
wiley   +1 more source

Sex‐Specific Proteomic Profiling Identifies Pregnancy Zone Protein as a Complement‐Linked Marker of Adverse Prognosis in Esophageal Adenocarcinoma

International Journal of Cancer, EarlyView.
ABSTRACT Esophageal adenocarcinoma (EAC) exhibits marked male predominance with male‐to‐female ratios reaching 8.5:1, yet the molecular basis underlying this sex disparity remains poorly characterized. We analyzed 92 EAC specimens using mass spectrometry–based proteomics, comprising 47 female and 45 male tumors from treatment‐naïve patients ...
Alexander Quaas, Hanna Schiemann, Su Ir Lyu, Thomas Zander, Axel Hillmer, Hans Schlößer, Christiane J. Bruns, Reinhard Büttner, Bastian Grothey   +8 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Post‐Translational Control of TaFT1 by WAPO1 Ubiquitination Shapes Spike Architecture and Yield in Wheat

Plant Biotechnology Journal, EarlyView.
ABSTRACT The florigen protein TaFT1 coordinately regulates heading time and spikelet number per spike (SNS), serving as a key yield determinant in wheat. However, how its stability is post‐translationally controlled in the shoot apical meristem remains unclear.
Yujie Jiang, Xiongtao Li, Yiqing Wang, Haoran Wang, Zhaoyan Chen, Chaoqun Dong, Xiangqing Liu, Xincheng Wang, Sufang Li, Weilong Guo, Yingyin Yao, Mingming Xin, Xingguo Ye, Zhongfu Ni, Qixin Sun, Jie Liu   +15 more
wiley   +1 more source

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

American Journal of Hematology, Volume 101, Issue 9, Page 2166-2176, September 2026.
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima, Margaret Mei‐Kay Wong, Jesus Gonzalez‐Lugo, Susan M. Geyer, Ali Alsugair, Maria Sirenko, Kimberly J. Langer, Terra L. Lasho, Christy Finke, Jun Choi, Maher Abdul‐Hay, Gary Ho, Mark R. Litzow, Aasiya Matin, Urshila Durani, Mehrdad Hefazi, William J. Hogan, Mithun V. Shah, Aref Al‐Kali, Kebede H. Begna, Naseema Gangat, Antoine N. Saliba, Ronald S. Go, Tariq Kewan, Gabriel Bartoo, Jade Kutzke, Kristen McCullough, Kenneth J. Warrington, Megan Sullivan, Kaaren K. Reichard, Horatiu Olteanu, Hemant Murthy, Talha Badar, Yael Kusne, Jeanne Palmer, Saurabh Chhabra, Nathan Punwani, Mary Riwes, Joseph P. McGuirk, Elizabeth F. Krakow, Amelia Langston, Taxiarchis Kourelis, David Dingli, James Foran, Matthew J. Koster, Mrinal M. Patnaik, David B. Beck, Hassan B. Alkhateeb, Abhishek A. Mangaonkar   +48 more
wiley   +1 more source