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5. 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 Arthritis Rheumatol; 2021 Oct; 73(10):1886-1895. PubMed ID: 33779074 [TBL] [Abstract][Full Text] [Related]
6. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome. Ospina Cardona D; Rodriguez-Pinto I; Iosim S; Bonet N; Mensa-Vilaro A; Wong MK; Ho G; Tormo M; Yagüe J; Shon W; Wallace DJ; Casals F; Beck DB; Abuav R; Arostegui JI Rheumatology (Oxford); 2024 Oct; 63(10):2897-2902. PubMed ID: 38552317 [TBL] [Abstract][Full Text] [Related]
7. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. Beck DB; Bodian DL; Shah V; Mirshahi UL; Kim J; Ding Y; Magaziner SJ; Strande NT; Cantor A; Haley JS; Cook A; Hill W; Schwartz AL; Grayson PC; Ferrada MA; Kastner DL; Carey DJ; Stewart DR JAMA; 2023 Jan; 329(4):318-324. PubMed ID: 36692560 [TBL] [Abstract][Full Text] [Related]
8. VEXAS syndrome in dermatology. Afsahi V; Christensen RE; Alam M Arch Dermatol Res; 2023 Mar; 315(2):161-164. PubMed ID: 35201420 [TBL] [Abstract][Full Text] [Related]
9. Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome. Patel N; Dulau-Florea A; Calvo KR Semin Hematol; 2021 Oct; 58(4):204-211. PubMed ID: 34802541 [TBL] [Abstract][Full Text] [Related]
10. UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review. Shaukat F; Hart M; Burns T; Bansal P Mod Rheumatol Case Rep; 2022 Jan; 6(1):134-139. PubMed ID: 34480172 [TBL] [Abstract][Full Text] [Related]
11. VEXAS syndrome. Nakajima H; Kunimoto H Int J Hematol; 2024 May; ():. PubMed ID: 38819628 [TBL] [Abstract][Full Text] [Related]
12. Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report. Wilke MVMB; Morava-Kozicz E; Koster MJ; Schmitz CT; Foster SK; Patnaik M; Warrington KJ; Klee EW; Pinto E Vairo F BMC Rheumatol; 2022 Aug; 6(1):54. PubMed ID: 36038944 [TBL] [Abstract][Full Text] [Related]
13. Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy. Khani M; Nafissi S; Shamshiri H; Moazzeni H; Taheri H; Sadeghi M; Salehi N; Chitsazian F; Elahi E Eur J Neurol; 2022 Dec; 29(12):3556-3563. PubMed ID: 35996994 [TBL] [Abstract][Full Text] [Related]
14. Sakuma M; Haferlach T; Walter W Oncotarget; 2024 Sep; 15():644-658. PubMed ID: 39347709 [No Abstract] [Full Text] [Related]
15. How I diagnose and manage VEXAS syndrome. Hagiya A; Siddiqi IN; Wang E; Lu CM Am J Clin Pathol; 2024 Jul; 162(1):28-40. PubMed ID: 38511841 [TBL] [Abstract][Full Text] [Related]
17. Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome. Stiburkova B; Pavelcova K; Belickova M; Magaziner SJ; Collins JC; Werner A; Beck DB; Balajkova V; Salek C; Vostry M; Mann H; Vencovsky J Arthritis Rheumatol; 2023 Jul; 75(7):1285-1290. PubMed ID: 36762418 [TBL] [Abstract][Full Text] [Related]
18. VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder. Huang H; Zhang W; Cai W; Liu J; Wang H; Qin T; Xu Z; Li B; Qu S; Pan L; Huang G; Gale RP; Xiao Z Exp Hematol Oncol; 2021 Mar; 10(1):23. PubMed ID: 33741056 [TBL] [Abstract][Full Text] [Related]
19. VEXAS within the spectrum of rheumatologic disease. Koster MJ; Warrington KJ Semin Hematol; 2021 Oct; 58(4):218-225. PubMed ID: 34802543 [TBL] [Abstract][Full Text] [Related]
20. Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies. Sakuma M; Blombery P; Meggendorfer M; Haferlach C; Lindauer M; Martens UM; Kern W; Haferlach T; Walter W Leukemia; 2023 May; 37(5):1080-1091. PubMed ID: 36823397 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]