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UnknownLesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.
Not available
S-EPMC7682842 | biostudies-literature
UnknownRetinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives.
Not available
S-EPMC9616387 | biostudies-literature
UnknownHigh clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Not available
S-EPMC7847589 | biostudies-literature
UnknownImbalance of the von Willebrand Factor - ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Not available
S-EPMC11188181 | biostudies-literature
ProteomicsInherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans
Age-related microangiopathy, also known as small vessel disease (SVD), causes damage to the liver, brain, kidney and retina. Based on the DNA damage theory of aging, we reasoned that genomic instability may underlie an SVD caused by dominant C-terminal variants in TREX1, the most abundant 3’-5’ DNA ...
ORGANISM(S): Homo sapiens (Human) 
2024-05-30 | PXD051905 | Pride
Brca1 Retinal vasculopathy with cerebral leukoencephalopathy Cerebroretinal vasculopathy Rvcl-s Rvcl Trex1 Interferon Inflamm-aging Herns Crv Dementia Dna damage response Small vessel disease Vasculopathy 
GenomicsHomo sapiens
RNA-seq of IMR90 cells stably expressing RVCL mutant TREX1 (V235Gfs)
PRJDB16254 | ENA
UnknownMisdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.
Not available
S-EPMC12316019 | biostudies-literature
TranscriptomicsTREX1 mislocalization enables precision PROTAC therapy for a genetic disease
Proteolysis-targeting chimeras (PROTACs) have been developed primarily for cancer, and their application to genetic disease remains largely unexplored. Unlike gene editing, which requires a bespoke intervention for each patient's mutation, a protein degrader could address many mutations at once, pro...
ORGANISM(S): Mus musculus 
2026-09-21 | GSE342342 | GEO
UnknownInherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Not available
S-EPMC11144269 | biostudies-literature
TranscriptomicsIdentification of gene expression patterns in spleen of TREX1-mutated mice
Investigating gene expression patterns in mice with conditional expression of the most common RVCL mutation, V235fs, and another mice expressing a conditional C-terminal mutation, D272fs, associated with a case of human SLE. Mutations at the N-terminus affecting TREX1 DNase activity are associated w...
ORGANISM(S): Mus musculus 
2018-03-15 | GSE96687 | GEO
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