Results 21 to 30 of about 3,419 (164)

Pathways affected by asbestos exposure in normal and tumour tissue of lung cancer patients

BMC Medical Genomics, 2008
Background Studies on asbestos-induced tumourigenesis have indicated the role of, e.g., reactive oxygen/nitrogen species, mitochondria, as well as NF-κB and MAPK signalling pathways.
Saharinen Juha, Knuutila Sakari, Hollmén Jaakko, Sarhadi Virinder K, Puustinen Anne, Hienonen-Kempas Tuija, Ruosaari Salla, Wikman Harriet, Anttila Sisko   +8 more
doaj   +2 more sources

Unmasking VEXAS syndrome: a rare case with crescentic glomerulonephritis [PDF]

European Journal of Case Reports in Internal Medicine
Introduction: VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammation, and somatic) syndrome is a newly recognized autoinflammatory hematologic condition due to mutations in the UBA1 gene.
Tattvam Shah
doaj   +2 more sources

Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next‐Generation Sequencing [PDF]

eJHaem
Background VEXAS syndrome is an adult‐onset, X‐linked autoinflammatory disorder resulting from somatic variations in the UBA1 gene. Aim To evaluate the adequacy of the digital PCR (dPCR) to follow up the variant allele frequency (VAF) on response to the ...
Alba Exposito‐Bey, Marco Antonio Montes‐Cano, Salvador Payán‐Pernía, José Raúl García‐Lozano, María Francisca González‐Escribano   +4 more
doaj   +2 more sources

Case report: VEXAS syndrome and literature review [PDF]

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   +2 more sources

Case Report: Diagnostic challenges in VEXAS syndrome with novel ultrastructural lung findings: IgG4-RD and vasculitis as relevant differential diagnoses [PDF]

Frontiers in Immunology
VEXAS syndrome is a rare, adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. Patients may present with symptoms similar to IgG4-related disease (IgG4-RD) or systemic vasculitis. We report the case of a 70-year-old man who
Peter Etzel, David Lang, Walter Stoiber, Astrid Obermayer, Gregor Öberseder, Bernd Lamprecht   +5 more
doaj   +2 more sources

Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes. [PDF]

Item does not contain fulltextMutations 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).
Huberman, K., Loosdrecht, A.A. van de, Valent, P., Cervera, J., Zamora, L., Voso, M.T., Adès, L., Tobiasson, M., Arango Ossa, J.E., Bernard, E., Ganster, C., Papaemmanuil, E., Pellagatti, A., Solé, F., Follo, M.Y., Gattermann, N., Finelli, C., Greenberg, P.L., Creignou, M., Boultwood, J., Zoldan, K., Domenico, D., Palomo, L., Savona, M.R., Fenaux, P., Sirenko, M., Hasserjian, R., Haase, D., Elias, H.K., Cazzola, M., Pinheiro, R.F., Klimek, V.M., Malcovati, L., Sanz, G., Kosmider, O., Ogawa, S., Jansen, J.H., Orna, E., Fontenay, M., Farina, A., Germing, U., Sander, B., Santini, V., Thol, F., Gurnari, C., Porta, M.G. Della, Bejar, R., Sperr, W.R., Ebert, B.L., Jädersten, M., Beck, D.B., Shih, L.Y., Hellström-Lindberg, E., Belickova, M., Heuser, M., Platzbecker, U., Santos, F.P.S., Kotsianidis, I., Eder, L.N., Thalhammer, R.   +59 more
core   +4 more sources

VEXAS syndrome with cutaneous nodules

Dermatology Reports, 2021
Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
doaj   +1 more source

Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort [PDF]

, 2023
VEXAS is a prototypic hemato-inflammatory disease combining rheumatologic and hematologic disorders in a molecularly defined nosological entity. In this nationwide study, we aimed at screenshotting the current diagnostic capabilities and clinical-genomic
Poloni, Antonella, Vitale, Antonio, Bertoli, Diego, Bernardi, Massimo, Musto, Pellegrino, Brussino, Luisa, Pane, Fabrizio, Diral, Elisa, Condorelli, Annalisa, Triggianese, Paola, Falconi, Giulia, Curti, Antonio, Cantarini, Luca, Caravelli, Daniela, Frigeni, Marco, Greco, Raffaella, Frassi, Micol, Firinu, Davide, Crisà, Elena, Crisafulli, Francesca, Sfriso, Paolo, Mallegni, Flavia, Campochiaro, Corrado, Tomelleri, Alessandro, Kordasti, Sharham, Papayannidis, Cristina, Dagna, Lorenzo, Bocchia, Monica, Pilo, Federica, Olivieri, Attilio, Bruno, Alessandro, Franceschini, Franco, Voso, Maria Teresa, Lugli, Elisabetta, Caroni, Federico, Battipaglia, Giorgia, Gurnari, Carmelo, Albano, Francesco, Bindoli, Sara, Morsia, Erika, Cattaneo, Chiara, Galossi, Elisa, Pascale, Maria Rosaria, Dragani, Matteo, Breccia, Massimo   +44 more
core   +3 more sources

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

Experimental Hematology & Oncology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in
Huijun Huang, Wenjun Zhang, Wenyu Cai, Jinqin Liu, Huijun Wang, Tiejun Qin, Zefeng Xu, Bing Li, Shiqiang Qu, Lijuan Pan, Gang Huang, Robert Peter Gale, Zhijian Xiao   +12 more
doaj   +1 more source

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease [PDF]

, 2020
BACKGROUND: Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders. METHODS: We analyzed peripheral-blood
Werner, A, Gadina, M, Asmar, AJ, Lachmann, HJ, Kaplan, MJ, Collins, JC, Gahl, WA, Sikora, KA, Manthiram, K, Wigerblad, G, Ospina Cardona, D, Xu, L, Rominger, E, Cardona, DO, Gupta, S, Young, NS, Calvo, KR, Pei, W, Nakabo, S, Carmona-Rivera, C, Deng, Z, Savic, S, Oda, H, Jones, A, Beck, DB, Aksentijevich, I, Beck, D, Nehrebecky, M, Chae, JJ, Malicdan, MCV, Dillon, LW, Novacic, D, Wells, KV, Groarke, EM, Abu-Asab, M, Mullikin, J, Colbert, RA, Wu, Z, Balanda, N, Rosenzweig, S, Kastner, DL, Goodspeed, W, Tsai, WL, Wang, W, Grayson, PC, Ross, DL, Hourigan, CS, Gutierrez-Rodrigues, F, Brooks, S, Ferrada, MA, Patel, B, Ombrello, AK, Barron, KS, Lee, C-CR, Retterer, K, Rowczenio, D, Solomon, BD, Dell’Orso, S, Laird, RS, Hoffmann, P, Deuitch, N, Trick, M, Dulau-Florea, A, Burgess, SM   +63 more
core   +3 more sources