{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sirenko M"],"funding":["NIAID NIH HHS","NCI NIH HHS"],"pagination":["1221-1229"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12060156"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["144(11)"],"pubmed_abstract":["<h4>Abstract</h4>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 patients with MDS. Digital droplet polymerase chain reaction profiling of a selected cohort of 375 male patients lacking MDS disease-defining mutations or established World Health Organization (WHO) disease classification identified 28 patients (7%) with UBA1 p.M41T/V/L mutations. Using targeted sequencing of UBA1 in a representative MDS cohort (n = 2027), we identified an additional 27 variants in 26 patients (1%), which we classified as likely/pathogenic (n = 12) and "],"journal":["Blood"],"pubmed_title":["Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes."],"pmcid":["PMC12060156"],"funding_grant_id":["T32 AI100853","P30 CA008748","P50 CA254838","F31 CA254130"],"pubmed_authors":["Eder LN","Boultwood J","Domenico D","Jadersten M","Ades L","Ebert BL","Hasserjian R","Haase D","Sander B","Thol F","Pinheiro RF","Valent P","Hellstrom-Lindberg E","Klimek VM","Palomo L","Tobiasson M","Kotsianidis I","Cervera J","Cazzola M","Papaemmanuil E","Arango Ossa JE","Kosmider O","Sole F","Ganster C","Germing U","Huberman K","Savona MR","Pellagatti A","Bejar R","Farina A","Santini V","Ogawa S","Sperr WR","van de Loosdrecht AA","Jansen JH","Heuser M","Sanz G","Shih LY","Fenaux P","Finelli C","Creignou M","Zoldan K","Orna E","Fontenay M","Sirenko M","Gurnari C","Santos FPS","Belickova M","Platzbecker U","Elias HK","Greenberg PL","Della Porta MG","Beck DB","Follo MY","Zamora L","Gattermann N","Bernard E","Thalhammer R","Voso MT","Malcovati L"],"additional_accession":[]},"is_claimable":false,"name":"Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.","description":"<h4>Abstract</h4>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 patients with MDS. Digital droplet polymerase chain reaction profiling of a selected cohort of 375 male patients lacking MDS disease-defining mutations or established World Health Organization (WHO) disease classification identified 28 patients (7%) with UBA1 p.M41T/V/L mutations. Using targeted sequencing of UBA1 in a representative MDS cohort (n = 2027), we identified an additional 27 variants in 26 patients (1%), which we classified as likely/pathogenic (n = 12) and ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2026-06-01T23:32:24.147Z","creation":"2026-05-24T03:07:03.483Z"},"accession":"S-EPMC12060156","cross_references":{"pubmed":["38687605"],"doi":["10.1182/blood.2023023723"]}}