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
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.
Xiang L et al.
Journal of Human Genetics, 2025
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.
McGlasson S et al.
Brain : a Journal of Neurology, 2025
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy.
Song ZR et al.
Kidney International, 2025
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.
Luo C et al.
Molecular Genetics & Genomic Medicine, 2024
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
Markovic I et al.
The Neuroradiology Journal, 2023
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
Preimplantation genetic testing for Aicardi-Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth.
Xu H et al.
Molecular Cytogenetics, 2023
Contribution of genetic variants associated with primary immunodeficiencies to childhood-onset systemic lupus erythematous.
Wu CY et al.
The Journal of Allergy and Clinical Immunology, 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
Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus.
Lee WF et al.
Pediatric Rheumatology Online Journal, 2022
Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants.
Wu et al.
Frontiers in Pediatrics, 2021
Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.
Wu CC et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Aicardi-Goutières syndrome with muscle involvement in early infancy.
Deigendesch N et al.
Neuropathology and Applied Neurobiology, 2018
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.
Monroy-Jaramillo N et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2018
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
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
Ji T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.
Soong BW et al.
Journal of the Chinese Medical Association : Jcma, 2013