Results 141 to 150 of about 4,126 (198)

UBA1 promotes cardiac hypertrophy by suppressing autophagy via targeting ATG5 for ubiquitination. [PDF]

Cell Commun Signal
Lin QY, Yu WJ, Li JX, Jiang WX, Liu SJ, Bi HL, Li HH.   +6 more
europepmc   +1 more source

Large-Vessel Vasculitis With Autoimmune Myelodysplastic Syndrome: An Uncommon Case of Large-Vessel Vasculitis With Cytopenia That Is Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome (VEXAS) Negative. [PDF]

Cureus
George P S B, John A, Krishnamoorthy S, Grace Jacob C, Chandak S.   +4 more
europepmc   +1 more source

VEXAS syndrome: cutaneous manifestations and UBA1 gene variants in the diagnosis of a rare autoinflammatory syndrome - Case report. [PDF]

An Bras Dermatol
Crivelatti I, Souza SM, Dimatos OC, Funchal GDG, Soares AM, Pereira AA.   +5 more
europepmc   +1 more source

Expanding the Clinical Spectrum of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: The First Report of Histologically Confirmed Neutrophilic Colitis With Rare Muscular and Pancreatic Involvement. [PDF]

Cureus
El Tahech S, Nassereddine H, Moukheiber S, Maalouly G.   +3 more
europepmc   +1 more source

A fatal case of VEXAS syndrome with a brief review. [PDF]

J Vasc Surg Cases Innov Tech
Stoltman G, Skeik R, Manunga J, Skeik N.
europepmc   +1 more source

Additional file 1 of Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming Xu   +12 more
openalex   +1 more source

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

, 2020
Beck, D, Ferrada, MA, Sikora, KA, Ombrello, AK, Collins, JC, Pei, W, Balanda, N, Ross, DL, Cardona, DO, 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, C-CR, Wang, W, Trick, M, 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   +60 more
openaire   +1 more source

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms. [PDF]

Leukemia
Thier J, Hofmann S, Kirchhof KM, Todisco G, Mortera-Blanco T, Lilienthal I, Kanellis DC, Barbosa I, Björklund AC, Deslauriers AG, Bartek J, Herold N, Papaemmanuil E, Papapetrou EP, Hellström-Lindberg E, Moura PL, Lundin V.   +16 more
europepmc   +1 more source

UBA1-depleted neutrophils disrupt immune homeostasis and induce VEXAS-like autoinflammatory disease in mice. [PDF]

J Clin Invest
Dong G, Liu J, Jin W, Zhou H, Wen Y, Wang Z, Xia K, Zhang J, Ma L, Ma Y, Cai LC, Zhou Q, Wang H, Wei W, Fu Y, Cai Z.   +15 more
europepmc   +1 more source

A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome. [PDF]

Cureus
Wilson C, Nightingale J, Khatri H, Whitfield B.   +3 more
europepmc   +1 more source