Results 171 to 180 of about 4,126 (198)

VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies. [PDF]

Int J Mol Sci
Corrao S, Moschetti M, Scibetta S, Calvo L, Giardina A, Cangemi I, Zizzo C, Colomba P, Duro G.   +8 more
europepmc   +1 more source

PAXIS: A Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Phase 2 Study (Part 1) Followed by an Open-Label Period (Part 2) to Assess the Efficacy and Safety of Pacritinib in Patients with VEXAS Syndrome. [PDF]

J Clin Med
Beck DB, Heiblig M, Savic S, Ferrada MA, Mekinian A, Chowdhury O, Hammond D, Weeks LD, Gurnari C, Kirino Y, Georgin-Lavialle S, Buckley SA, Garcha R, Harder BG, Koster MJ.   +14 more
europepmc   +1 more source

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular Disorders, 2013
Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. Published pathological reports are scarce.
Nomazulu Dlamini, Dragana Josifova, Simon Paine, Elizabeth Wraige, Matthew Pitt, Amanda J. Murphy, Andrew King, Stefan Buk, Frances J.D. Smith, Stephen Abbs, Caroline A. Sewry, Thomas S. Jacques, Heinz Jungbluth   +12 more
exaly   +6 more sources

Mutation du gène UBA1 dans l’artérite à cellules géantes

La Revue de Médecine Interne, 2021
Introduction Le syndrome VEXAS (vacuoles, enzyme E1, liee a l’X, auto-inflammatoire, somatique), est associe a des mutations somatiques affectant la methionine-41 (pMet41) dans le gene de l’Ubiquitin-like modifier activating enzyme 1 (UBA1) situe sur le chromosome X [1] , [2] .
Julien Rossignol, Christophe Marzac, Azeddine Dellal, Éric Solary, Vincent Jachiet, Nabil Belfeki, Mounia Slaoui, Sophie Georgin‐Lavialle, Davy Benarroche, Olivier Hermine, O. Fain, A. Mékinian   +11 more
openalex   +2 more sources

Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome

Seminars in Hematology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly characterized syndrome with underlying somatic UBA1 mutations in myeloid cells linking hematologic disease with autoinflammatory rheumatologic disorders. Hematologic abnormalities, particularly peripheral blood cytopenia(s) may prompt bone marrow evaluation in patients with ...
Nisha Patel, Alina Dulau‐Florea, Katherine R. Calvo   +2 more
openalex   +3 more sources

Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

Arthritis & Rheumatology, 2021
ObjectiveSomatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsing polychondritis (RP), but clinical features that characterize VEXAS within a cohort of patients with RP ...
Marcela A. Ferrada, Keith A. Sikora, Yiming Luo, Kristina V Wells, Bhavisha A. Patel, Emma M. Groarke, Daniela Ospina Cardona, Emily Rominger, Patrycja Hoffmann, Mimi T. Le, Zuoming Deng, Kaitlin A. Quinn, Emily Rose, Wanxia Li Tsai, Gustaf Wigerblad, Wendy Goodspeed, Anne Jones, Lorena Wilson, Oskar Schnappauf, Ryan S. Laird, Jeff Kim, Clint Allen, Arlene Sirajuddin, Marcus Y. Chen, Massimo Gadina, Katherine R. Calvo, Mariana J. Kaplan, Robert A. Colbert, Ivona Aksentijevich, Neal S. Young, Sinisa Savic, Daniel L. Kastner, Amanda K. Ombrello, David B. Beck, Peter C. Grayson   +34 more
openalex   +3 more sources

Rapid Screening and Monitoring of UBA1 Mutations in VEXAS Syndrome

The Journal of Molecular Diagnostics
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe adult-onset autoinflammatory disease associated with hematologic conditions, such as myelodysplastic syndrome. VEXAS is mostly due to an acquired mutation affecting methionine 41 (p.M41) of the UBA1 gene, which is present in >90% of patients and usually at a high burden ...
Iván Martín, Elvira Mora, Rafael Hernani, José Cervera, M. Fernández, Blanca Ferrer Lores, Esperanza Such, Marisa Calabuig, Rosario Abellán, Marina Díaz‐Beyá, Juan Carlos Hernández‐Boluda, Carlos Solano, Eva Villamón, Mar Tormo   +13 more
openalex   +6 more sources

UBA1 gene mutation in giant cell arteritis

Clinical Rheumatology, 2022
Julien Rossignol, Christophe Marzac, Azeddine Dellal, Nabil Belfeki, Vincent Jachiet, Mounia Slaoui, Davy Benarroche, Sophie Georgin‐Lavialle, Éric Solary, Olivier Hermine, O. Fain, A. Mékinian, on behalf MINHEMON   +12 more
openalex   +3 more sources