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Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.
Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, Manley AL, Li H, Ospina Cardona D, Kajigaya S, Alemu L, Quinones Raffo D, Ombrello AK, Ferrada MA, Grayson PC, Calvo KR, Kastner DL, Beck DB, Young NS. Wu Z, et al. Among authors: ombrello ak. Cell Rep Med. 2023 Aug 15;4(8):101160. doi: 10.1016/j.xcrm.2023.101160. Cell Rep Med. 2023. PMID: 37586319 Free PMC article.
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR. Obiorah IE, et al. Among authors: ombrello ak. Blood Adv. 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. Blood Adv. 2021. PMID: 34427584 Free PMC article.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: ombrello ak. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC. Ferrada MA, et al. Among authors: ombrello ak. Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31. Arthritis Rheumatol. 2021. PMID: 33779074
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Ferrada MA, et al. Among authors: ombrello ak. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985. Blood. 2022. PMID: 35793467 Free PMC article.
Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM. Gutierrez-Rodrigues F, et al. Among authors: ombrello ak. Blood. 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. Blood. 2023. PMID: 37084382
Deficiency of adenosine deaminase 2: Is it an elephant after all?
Schnappauf O, Ombrello AK, Kastner DL. Schnappauf O, et al. Among authors: ombrello ak. J Allergy Clin Immunol. 2020 Jun;145(6):1560-1561. doi: 10.1016/j.jaci.2020.04.023. Epub 2020 Apr 27. J Allergy Clin Immunol. 2020. PMID: 32353490 No abstract available.
56 results