Results 181 to 190 of about 4,126 (198)

Abstract 4629: QClampTM Plex VEXAS syndrome UBA1 mutation detection assay: A noval XNA based assay to simultaneously detect eight UBA1 somatic mutations associated with VEXAS syndrome

open access: closedCancer Research
Abstract VEXAS syndrome (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a monogenic disease discovered in December 2020. It is an adult-onset systemic inflammatory disorder genetically characterized by somatic mutation of the UBA1 gene which encodes the ubiquitin like modifier activating enzyme 1. VEXAS patients
Yunqing Ma
openalex   +2 more sources

Recherche systématique de la mutation UBA1 chez les hommes après un premier épisode thrombotique veineux

open access: closedJMV-Journal de Médecine Vasculaire, 2023
Lina Khider   +13 more
openalex   +2 more sources

Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease

open access: closedLeukemia, 2021
Lin‐Pierre Zhao   +20 more
openalex   +3 more sources

Systematic search for the UBA1 mutation in men after a first venous thrombotic episode

open access: closedArchives of Cardiovascular Diseases Supplements, 2023
Lina Khider   +12 more
openalex   +2 more sources

Looking for somatic mutations in UBA1 in patients with chronic myelomonocytic leukemia associated with systemic inflammation and autoimmune diseases

open access: closedLeukemia & Lymphoma, 2021
Henry Dupuy   +14 more
openalex   +3 more sources

Recherche de mutations UBA1 chez des patients atteints de leucémies myélomonocytaires chroniques avec manifestations auto-inflammatoires ou auto-immunes

open access: closedLa Revue de Médecine Interne, 2021
Henry Dupuy   +14 more
openalex   +2 more sources
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Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease

Blood, 2020
Somatic mutations in UBA1 in hematopoietic stem cells and myeloid cells have recently been described and are associated with adult-onset severe autoinflammatory diseases including relapsing polychondritis, Sweet syndrome, polyarteritis nodosa, and giant cell arteritis. This newly defined syndrome is named VEXAS (vacuoles, E1, X-linked, autoinflammatory,
Ifeyinwa Emmanuela Obiorah   +17 more
openaire   +1 more source

Caractéristiques du syndrome VEXAS associé aux mutations d’épissage du gène UBA1 : étude multicentrique comparative avec les formes Met41

open access: closedLa Revue de Médecine Interne
C. Le Liepvre   +14 more
openalex   +2 more sources

Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy X

International Journal of Laboratory Hematology, 2021
Isabelle Luquet   +4 more
openaire   +2 more sources

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review

Modern Rheumatology Case Reports, 2022
Pankaj Bansal
exaly  

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