Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

Autor: Ospina Cardona D; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY, USA., Rodriguez-Pinto I; Department of Internal Medicine, Hospital Mútua de Terrassa, Terrassa, Spain., Iosim S; Department of Pediatrics, New York University School of Medicine, New York, NY, USA., Bonet N; Genomics Core Facility, Departament de Medicina i Ciències de la Vida (MELIS), Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain., Mensa-Vilaro A; Department of Immunology, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain., Wong MK; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY, USA.; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, USA., Ho G; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, USA., Tormo M; Genomics Core Facility, Departament de Medicina i Ciències de la Vida (MELIS), Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.; Scientific Computing Core Facility, Departament de Medicina i Ciències de la Vida (MELIS), Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain., Yagüe J; Department of Immunology, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; School of Medicine, Universitat de Barcelona, Barcelona, Spain., Shon W; Department Pathology & Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Wallace DJ; Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Casals F; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Beck DB; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY, USA.; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, USA.; Department of Biochemistry and Molecular Pharmacology, New York University School of Medicine, New York, NY, USA., Abuav R; Department Pathology & Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Arostegui JI; Department of Immunology, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; School of Medicine, Universitat de Barcelona, Barcelona, Spain.

Publikováno v: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2024 Oct 01; Vol. 63 (10), pp. 2897-2902.

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P013 - Topic: AS01-Diagnosis/AS01c-Molecular aberrations (cytogenetic, genetic, gene expression): A CARTOGRAPHY OF UBA1 GENE TESTING, EPIDEMIOLOGY AND CLINICAL-GENOMIC CHARACTERISTICS: THE VEXAS/MDS ITALIAN EXPERIENCE

Autor: Gurnari, C., Pascale, M.R., Vitale, A., Diral, E., Galossi, E., Falconi, G., Bruno, A., Crisafulli, F., Frassi, M., Cattaneo, C., Bertoli, D., Bernardi, M., Condorelli, A., Morsia, E., Crisà, E., Triggianese, P., Brussino, L., Battipaglia, G., Bindoli, S., Sfriso, P., Caroni, F., Olivieri, A., Kordasti, S., Albano, F., Pane, F., Musto, P., Bocchia, M., Lugli, E., Rambaldi, A., Greco, R., Franceschini, F., Ciceri, F., Cantarini, L., Voso, M.T.

Publikováno v: In Leukemia Research May 2023 128 Supplement

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Autor: Dlamini, Nomazulu, Josifova, Dragana J., Paine, Simon M.L., Wraige, Elizabeth, Pitt, Matthew, Murphy, Amanda J., King, Andrew, Buk, Stefan, Smith, Frances, Abbs, Stephen, Sewry, Caroline, Jacques, Thomas S., Jungbluth, Heinz

Publikováno v: In Neuromuscular Disorders May 2013 23(5):391-398

A new disorder to keep in mind: VEXAS syndrome.

Autor: Freitas, Egídio¹ egidiofreitas68980@gmail.com, Nogueira, Miguel¹, Lé, Ana M.¹, Coelho, André², Lobo, Inês¹

Publikováno v: Portuguese Journal of Dermatology & Venereology. Apr-Jun2024, Vol. 82 Issue 2, p133-137. 5p.