Results 121 to 130 of about 3,812 (167)

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations. [PDF]

Leukemia
Sakuma M, Wang AK, Magaziner SJ, Keane SP, Meggendorfer M, Kern W, Haferlach C, Haferlach T, Beck DB, Walter W.   +9 more
europepmc   +1 more source

UBA6 specificity for ubiquitin E2 conjugating enzymes reveals a priority mechanism of BIRC6. [PDF]

Nat Struct Mol Biol
Riechmann C, Ellison CJ, Anderson JW, Hofmann K, Sarkies P, Elliott PR.   +5 more
europepmc   +1 more source

Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score. [PDF]

J Clin Immunol
von Bornemann Fløe L, Dyrmose KO, Sørensen CD, Nørgaard M, Pedersen FKU, Vad-Nielsen J, Knudsen M, Christiansen M, Bill M, Rasch MNB, Hauge EM, Troldborg A, Staunstrup NH, Bernth Jensen JM.   +13 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

Primary CD34⁺ cells of patients with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome are highly sensitive to targeted treatment with TAK-243. [PDF]

Br J Haematol
Nowak D, Demmerle M, Klär A, Streuer A, Riabov V, Altrock E, Rapp F, Belzer AC, Klink T, Hahn M, Hofmann F, Nowak V, Weimer N, Obländer J, Palme I, Göl M, Darwich A, Steiner L, Abba M, Metzgeroth G, Hofmann WK, Schmitt N.   +21 more
europepmc   +1 more source

Renal Manifestations in VEXAS Syndrome: A Systematic Review of Clinical Features, Pathology, and Outcomes. [PDF]

Mediterr J Rheumatol
Arya A, Mulavini V, Hashim R, Rondla M, Tan JW, Unnikrishnan D.   +5 more
europepmc   +1 more source

Case Report: Diagnostic challenges in VEXAS syndrome with novel ultrastructural lung findings: IgG4-RD and vasculitis as relevant differential diagnoses. [PDF]

Front Immunol
Etzel P, Lang D, Öberseder G, Lamprecht B.   +3 more
europepmc   +1 more source

VEXAS syndrome with atypical presentation: A case report and review of eosinophils in cutaneous biopsies. [PDF]

JAAD Case Rep
Tang M, Oliva R, Nisar N, Menge T.
europepmc   +1 more source