Associated Papers
TREX1 exonuclease in immunity and disease.
Shang Z et al.
International Immunology, 2025
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy.
Song ZR et al.
Kidney International, 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
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
Chang LH et al.
Cellular and Molecular Neurobiology, 2023
A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.
Chenhan Z et al.
Bmc Pregnancy and Childbirth, 2023
Child Neurology: Aicardi-Goutières Syndrome Presenting as Recurrent Ischemic Stroke.
Kuang SY et al.
Neurology, 2022
Aicardi-Goutières syndrome with muscle involvement in early infancy.
Deigendesch N et al.
Neuropathology and Applied Neurobiology, 2018
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
25604658 (PubMed )
Supplement: supplement_1.docx
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