Results 41 to 50 of about 2,418 (172)

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

Cell Reports Medicine, 2023
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. To elucidate VEXAS pathophysiology, we performed transcriptome sequencing of single bone marrow mononuclear cells and hematopoietic stem ...
Zhijie Wu, Shouguo Gao, Qingyan Gao, Bhavisha A. Patel, Emma M. Groarke, Xingmin Feng, Ash Lee Manley, Haoran Li, Daniela Ospina Cardona, Sachiko Kajigaya, Lemlem Alemu, Diego Quinones Raffo, Amanda K. Ombrello, Marcela A. Ferrada, Peter C. Grayson, Katherine R. Calvo, Daniel L. Kastner, David B. Beck, Neal S. Young   +18 more
openaire   +2 more sources

Absence of NLRP3 somatic mutations and VEXAS‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome

Allergy, 2022
No abstract ...
Louvrier, Camille, Awad, Fawaz, Amselem, Serge, Lipsker, Dan, Giurgea, Irina   +4 more
openaire   +3 more sources

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome [PDF]

American Journal of Clinical Pathology
Simon Chen, Peter C Grayson, Marcela A Ferrada   +2 more
exaly   +2 more sources

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

Leukemia
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe inflammatory and hematologic disease caused by somatic mutations in UBA1 . Canonical pathogenic mutations at UBA1 p.Met41 (M41) lead to the ...
Sakuma M, Wang AK, Magaziner SJ, Keane SP, Meggendorfer M, Kern W, Haferlach C, Haferlach T, Beck DB, Walter W.   +9 more
europepmc   +3 more sources

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Molecular Genetics & Genomic Medicine, 2021
Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 
Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang   +3 more
doaj   +1 more source

The VEXAS Syndrome: Uncontrolled Inflammation and Macrocytic Anaemia in a 77-Year-Old Male Patient

European Journal of Case Reports in Internal Medicine, 2021
The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described X-linked autoinflammatory condition caused by a somatic mutation of the UBA1 gene and characterized by an evolving phenotype. This includes inflammatory
Andreas Himmelmann, Rolf Brücker
doaj   +1 more source

VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia

Case Reports in Hematology, 2023
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1.
Janne Austestad, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, Håkon Reikvam   +5 more
doaj   +1 more source

Response letter to “Latent class analysis of 216 patients with adult-onset Still’s disease” by Sugiyama et al.

Arthritis Research & Therapy, 2022
Sugiyama et al. recently described in “Latent class analysis of 216 patients with adult-onset Still’s disease,” baseline characteristics, laboratory tests, treatment, relapse, and death of adult-onset Still’s disease (AOSD) patients from a Japanese ...
Marion Delplanque, Arsène Mekinian, Sophie Georgin-Lavialle   +2 more
doaj   +1 more source

Sequences around the Uba1 mutation in tsTM3 cells.

, 2014
(A) Sequencing traces obtained with Uba1 DNA (prepared by reverse transcription of pools of mRNA or from genomic DNA) from wild-type CHO-K1 and mutant tsTM3 cells.
Kimihiko Sugaya (560676), Sonoe Inoue (560678), Yoshie Ishihara (560677), Hideo Tsuji (24799)   +3 more
core   +1 more source

VEXAS Syndrome: A Novelty in MDS Landscape

Diagnostics, 2022
Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1 ...
Marie Templé, Olivier Kosmider
doaj   +1 more source