Results 151 to 160 of about 2,418 (172)

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, David B. Beck, Weixin Wang, Amanda Ombrello, Marcela A Ferrada, Zhijie Wu, Keith A Sikora, Megan A Trick, Alina Dulau-Florea, Bhavisha A Patel, Emma Groarke, Shawn M. Burgess, Achim A Werner, Ivona A Aksentijevich, Neal S. Young, Daniel L Kastner, Peter C Grayson, Katherine R. Calvo   +17 more
openaire   +1 more source

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

International Journal of Laboratory Hematology, 2021
Isabelle Luquet, Ali El Kassir, Laurent Sailler, Laetitia Largeaud, Véronique Mansat‐De Mas   +4 more
openaire   +2 more sources

BI03 The presence of VEXAS-related UBA1 mutation in a patient with myelodysplastic syndrome

British Journal of Dermatology
Abstract A 56-year-old female patient with a background of myelo­dysplastic syndrome (MDS) was admitted with a febrile illness and a solitary, bullous skin lesion on her right inner thigh. This lesion started as a scaly patch 1 week prior to admission before developing into a large tense bulla with associated lymphadenopathy in the groin.
Evangelia Vetsiou, Arvindh Sekaran, Sarah McDonald, Charles Crawley, Andre Khoo   +4 more
openaire   +1 more source

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

Cancer 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
openaire   +1 more source

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

Leukemia, 2021
Lin-Pierre Zhao, Berenice Schell, Marie Sébert, Rathana Kim, Pierre Lemaire, Maxime Boy, Stephanie Mathis, Lise Larcher, Clémentine Chauvel, Mohamed Bedis Dhouaieb, Valéria Bisio, Claude Preudhomme, Alice Marceau-Renaut, Raphaël Itzykson, Arsène Mekinian, Olivier Fain, Antoine Toubert, Pierre Fenaux, Nicolas Dulphy, Emmanuelle Clappier, Lionel Adès   +20 more
openaire   +2 more sources

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

Modern Rheumatology Case Reports, 2022
Melissa Hart, Timothy Burns, Pankaj Bansal   +2 more
exaly  

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

Archives of Cardiovascular Diseases Supplements, 2023
Lina Khider, Marie Templé, Cecile Bally, Agathe Spaeth, Luc Darnige, Olivier Sanchez, Benjamin Planquette, Emmanuel Messas, David Smadja, Joseph Emmerich, Tristan Mirault, Olivier Kosmider, Nicolas Gendron   +12 more
openaire   +1 more source

Somatic Mutation in UBA1 and ANCA-associated Vasculitis

Journal of Rheumatology, 2021
Carolyn Ross, Hannah Laure Elfassy, Jean-Paul Makhzoum   +2 more
exaly  

AB1275 SUGGESTED APPROACH TO UBA1 GENE MUTATION TESTING IN PATIENTS WITH SUSPECTED VEXAS SYNDROME

Annals of the Rheumatic Diseases, 2022
K. Pavelcova, B. Stiburkova, V. Balajková, M. Belickova, C. Salek, M. Vostry, H. Mann, J. Vencovský   +7 more
openaire   +1 more source

Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy

European Journal of Neurology, 2022
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri   +2 more
exaly