Associated Papers
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 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
The SLE-associated TREX1-P212fs mutation disrupts ER association leading to type I interferonopathy.
Xu S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
Kidney-Predominant Thrombotic Microangiopathy Associated With TREX1 Frameshift Mutation.
Song ZR et al.
Kidney International Reports, 2023
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Uemura M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
ER-directed TREX1 limits cGAS activation at micronuclei.
Mohr L et al.
Molecular Cell, 2021
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Xie N et al.
Orphanet Journal of Rare Diseases, 2021
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease.
Pelzer N et al.
Journal of Internal Medicine, 2019
A 44-year-old man with eye, kidney, and brain dysfunction.
Vodopivec I et al.
Annals of Neurology, 2016
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
DiFrancesco JC et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.
Barizzone N et al.
Biomed Research International, 2013
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Crow YJ et al.
Human Molecular Genetics, 2009
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A et al.
Nature Genetics, 2007