Back to search

Article

Locus-specific transposable element expression drives human hematopoietic stem cell disease pathophysiology

2026-08-05

Abstract excerpt

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe, inflammatory syndrome resulting from mutated UBA1 leading to hematopoietic stem cells (HSC) expansion. Although UBA1 -mutant HSC show complex phenotypes including proteostasis defects, sustained inflammation and clonal expansion of myeloid biased progeny, the pathogenic mechanisms at the HSC level are unknown from these gene-c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
23f448e7-abd8-54a7-84fb-37d3cd686e88
DOI
10.64898/2026.07.31.742092
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Locus-specific transposable element expression drives human hematopoietic stem cell disease pathophysiologyDOI 10.64898/2026.07.31.742092
Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndromeSemantic proximity
VEXAS syndrome.Semantic proximity
VEXAS Syndrome Beyond UBA1: Genetic Architecture and the Role of Co-Occurring Somatic Mutations-A Focused Review.Semantic proximity
Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.Semantic proximity
Spectrum of clonal hematopoiesis in VEXAS syndrome.Semantic proximity
Understanding Myelodysplasia and Inflammation through the Lense of VEXAS Syndrome: A ReviewSemantic proximity
Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review.Semantic proximity
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.Semantic proximity
Neutrophils take center stage in VEXAS syndrome pathogenesis.Semantic proximity
Transposable elements in normal and malignant hematopoiesis.Semantic proximity
VEXAS: A review of current understandings and emerging treatment strategies.Semantic proximity
Looking beyond VEXAS: Coexistence of undifferentiated systemic autoinflammatory disease and myelodysplastic syndrome.Semantic proximity
Select a neighboring publication to make it the new centre.