Associated Papers
Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.
Rioux B et al.
Nature Communications, 2026
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
Tasharrofi B et al.
Iranian Journal of Child Neurology, 2024
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.
Sugiura K et al.
The Journal of Investigative Dermatology, 2012
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
Lehtinen DA et al.
The Journal of Biological Chemistry, 2008
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D et al.
Cell Cycle (georgetown, Tex.), 2008
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
Rice G et al.
American Journal of Human Genetics, 2007
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