Results 71 to 80 of about 3,812 (167)

Alzheimer's disease biological domain sub‐stratification enhances the precision of functional analyses

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION The Target Enablement to Accelerate Therapy Development for AD (TREAT‐AD) bioinformatics pipeline employs a rank‐and‐organize strategy. Disease‐associated genes drive enrichment of large AD‐linked endophenotypes. However, these biological areas were too large to promote hypothesis development or target identification.
Gregory A. Cary, Sai Sruthi Amirtha Ganesh, Laura Heath, Karina Leal, Martin Kampmann, Frank M. Longo, Robert R. Butler III, Allan L. Levey, Gregory W. Carter, Jesse Wiley   +9 more
wiley   +1 more source

Candida oesophagitis as an Initial Manifestation of VEXAS Syndrome: Expanding Evidence for an Acquired Immunodeficiency Phenotype

eJHaem, Volume 7, Issue 4, August 2026.
Demi Rianne Vintges, Marina Weerheim, Faiz Karim   +2 more
wiley   +1 more source

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 713-714, August 2026.
Andrew Y. Sung, Jackson W. Douglas, Olga K. Weinberg, Sharon K. Germans, Weina Chen   +4 more
wiley   +1 more source

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome

Nature Communications
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is caused by inactivating somatic mutations in the UBA1 gene. Here, we characterize the immunological landscape of VEXAS syndrome by performing multi-omics single-cell RNA analysis,
Hiroki Mizumaki, Shouguo Gao, Zhijie Wu, Fernanda Gutierrez-Rodrigues, Massimiliano Bissa, Xingmin Feng, Emma M. Groarke, Haoran Li, Lemlem Alemu, Diego Quinones Raffo, Ivana Darden, Sachiko Kajigaya, Peter C. Grayson, Genoveffa Franchini, Neal S. Young, Bhavisha A. Patel   +15 more
doaj   +1 more source

Macrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS‐linked UBA1 mutations

HemaSphere, Volume 10, Issue 7, July 2026.
Verena Petzer, Wolfram Mayr, Eva Spoegler, Emina Jukic, Christoph Winkler, Verena Vogi, Normann Steiner, Christina Duftner, Andrea Griesmacher, Günter Weiss, Dominik Wolf, Florian Kocher, David Haschka   +12 more
wiley   +1 more source

VEXAS without vacuoles: Linking genotype to phenotype

eJHaem
Introduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within ...
Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel   +3 more
doaj   +1 more source

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome

Practical Laboratory Medicine
Objectives: Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.M41V (c.121A > G), and p.M41L (c.121A > C) in codon 41 of exon 3.
Yunqing Ma, ShianPin Hu, Rui Ni, Wei Liu, Andrew Fu, Michael Sha, Aiguo Zhang, Chuanyi M. Lu   +7 more
doaj   +1 more source

Case report: VEXAS syndrome: first documented cases in Latin America

Frontiers in Hematology
IntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati, Inés Gervaz, Inés Gervaz, Martín Yandian, Martín Yandian, Matilde Boada, Matilde Boada, Gabriela Vidal-Senmache, Percy Ortiz-Guerra, Ana I. Catalán, Patricia Kutscher, Diego Lopez, Lilian Diaz, Sofia Grille, Sofia Grille   +14 more
doaj   +1 more source

Case report: VEXAS syndrome and literature review

Frontiers in Hematology
VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene.
Can Jones, Can Jones, Stanislav Ivanov, Pablo Ferraro, Pablo Ferraro, Souhad Younes, Souhad Younes, Hugo Fernandez   +7 more
doaj   +1 more source

S161: UBA1 NON-M41 VARIANTS ARE MORE AGGRESSIVE THAN UBA1 M41 VARIANTS IN THEIR HEMATOLOGICAL MANIFESTATIONS.

HemaSphere, 2023
Sakuma, Maki, Baer, Constance, Meggendorfer, Manja, Haferlach, Claudia, Kern, Wolfgang, Haferlach, Torsten, Walter, Wencke   +6 more
openaire   +2 more sources