Associated Papers
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 2025
Drosophila melanogaster model of RVCL-S demonstrates age dependent disease progression.
Gracheva E et al.
Biorxiv : the Preprint Server for Biology, 2025
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.
McGlasson S et al.
Brain : a Journal of Neurology, 2025
Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.
Shekfeh M et al.
Human Genomics, 2025
40581636 (PubMed )
Supplement: 40246_2025_785_MOESM10_ESM.xlsx › Table_S7
Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy.
Chauvin SD et al.
Journal of Clinical Immunology, 2024
Imbalance of the von Willebrand Factor - ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Braune M et al.
Neurological Research and Practice, 2024
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Chauvin SD et al.
Nature Communications, 2024
Liver pathology in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: vasculopathic disease beyond nodular regenerative hyperplasia.
Khonde P et al.
Human Pathology, 2023
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives.
Wilms AE et al.
Cerebral Circulation - Cognition and Behavior, 2022
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.
Monroy-Jaramillo N et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2018
A 44-year-old man with eye, kidney, and brain dysfunction.
Vodopivec I et al.
Annals of Neurology, 2016
Human disease phenotypes associated with mutations in TREX1.
Rice GI et al.
Journal of Clinical Immunology, 2015
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