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
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
Pharmacological evaluation of drug therapies in Aicardi-Goutières syndrome: insights from patient-derived neural stem cells.
Braidotti S et al.
Frontiers in Pharmacology, 2025
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Human Molecular Genetics, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Shim A et al.
Biorxiv : the Preprint Server for Biology, 2024
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Monogenic lupus: Tracing the therapeutic implications from single gene mutations.
Jia X et al.
Clinical Immunology (orlando, Fla.), 2023
Child Neurology: Aicardi-Goutières Syndrome Presenting as Recurrent Ischemic Stroke.
Kuang SY et al.
Neurology, 2022
Structural basis of human TREX1 DNA degradation and autoimmune disease.
Zhou W et al.
Nature Communications, 2022
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.
Giordano AMS et al.
The Journal of Experimental Medicine, 2022
TREX1 as a Novel Immunotherapeutic Target.
Hemphill WO et al.
Frontiers in Immunology, 2021
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.
Ferraro RM et al.
Stem Cell Research, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J et al.
Journal of Clinical Medicine, 2019
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.
Kisla Ekinci RM et al.
European Journal of Medical Genetics, 2017
Rare variants, autoimmune disease, and arthritis.
Chung SA et al.
Current Opinion in Rheumatology, 2016
Human disease phenotypes associated with mutations in TREX1.
Rice GI et al.
Journal of Clinical Immunology, 2015
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
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
Ellyard JI et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.
Olivieri I et al.
Lupus, 2013
Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.
Pulliero A et al.
Oncology Reports, 2012