Associated Papers
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?
Wang X et al.
Immunity, Inflammation and Disease, 2024
Kidney-Predominant Thrombotic Microangiopathy Associated With TREX1 Frameshift Mutation.
Song ZR et al.
Kidney International Reports, 2023
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
Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation.
Saito R et al.
Journal of Neuropathology and Experimental Neurology, 2019
TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.
Kothari PH et al.
Brain Pathology (zurich, Switzerland), 2018
A 44-year-old man with eye, kidney, and brain dysfunction.
Vodopivec I et al.
Annals of Neurology, 2016
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
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