Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D18N
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TREX1

NM_033629.6:p.D18N

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

Disordered DNA-binding motif forms a modulation site for inhibiting the cancer immunotherapy target TREX1.

Huang KW et al.

Nucleic Acids Research, 2026

TREX1 exonuclease in immunity and disease.

Shang Z et al.

International Immunology, 2025

TREX1 enables viral entry in intestinal epithelia via immunity-independent control of endocytosis.

Liu X et al.

Cell Reports, 2025

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Liu R et al.

Pediatric Rheumatology Online Journal, 2025

Mouse models of type I interferonopathies.

Luca D et al.

Human Molecular Genetics, 2025

Familial Cases of Aicardi-Goutières Syndrome Presenting With Cutaneous Manifestations of Facial Lipodystrophy and Puffy Digits.

Hanami Y et al.

The Journal of Dermatology, 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

Glial Origins of Inherited White Matter Disorders.

Sevagamoorthy A et al.

Cold Spring Harbor Perspectives in Biology, 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

The induction of type I interferonopathy in Trex1-P212fs mice is mediated by activation of the cGAS-STING pathway.

Du H et al.

International Journal of Biological Macromolecules, 2025

The SLE-associated TREX1-P212fs mutation disrupts ER association leading to type I interferonopathy.

Xu S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

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

Targeting TREX1 Induces Innate Immune Response in Drug-Resistant Small-Cell Lung Cancer.

Murayama T et al.

Cancer Research Communications, 2024

Nucleotide metabolism, leukodystrophies, and CNS pathology.

Gavazzi F et al.

Journal of Inherited Metabolic Disease, 2024

MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling.

Técher H et al.

Nature Communications, 2024

The Exonuclease TREX1 Constitutes an Innate Immune Checkpoint Limiting cGAS/STING-Mediated Antitumor Immunity.

Lim J et al.

Cancer Immunology Research, 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

A novel TREX1 inhibitor, VB-85680, upregulates cellular interferon responses.

Flowers S et al.

Plos One, 2024

Development of LB244, an Irreversible STING Antagonist.

Barasa L et al.

Journal of the American Chemical Society, 2023

Targeting STING oligomerization with small-molecule inhibitors.

Humphries F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Suppression of TREX1 deficiency-induced cellular senescence and interferonopathies by inhibition of DNA damage response.

Du H et al.

Iscience, 2023

PML and PML-like exonucleases restrict retrotransposons in jawed vertebrates.

Mathavarajah S et al.

Nucleic Acids Research, 2023

Cytosolic DNA sensing by cGAS/STING promotes TRPV2-mediated Ca2+ release to protect stressed replication forks.

Li S et al.

Molecular Cell, 2023

p53 engages the cGAS/STING cytosolic DNA sensing pathway for tumor suppression.

Ghosh M et al.

Molecular Cell, 2023

Case report: Durable response to ruxolitinib in a child with TREX1-related disorder.

Bin Khathlan Y et al.

Frontiers in Pediatrics, 2023

37187582 (PubMed )
Supplement: Table1.pdf

The E3 ubiquitin ligase ARIH1 promotes antiviral immunity and autoimmunity by inducing mono-ISGylation and oligomerization of cGAS.

Xiong TC et al.

Nature Communications, 2022

Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.

MacLauchlan S et al.

Arthritis & Rheumatology (hoboken, N.j.), 2022

Structural basis of human TREX1 DNA degradation and autoimmune disease.

Zhou W et al.

Nature Communications, 2022

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.

Amico G et al.

Genes, 2022

35885962 (PubMed )
Supplement: genes-13-01179-s001.zip › genes-1786121-supplementary.pdf

Human TREX1 Repairs 3'-End DNA Lesions in Vitro.

Yang K et al.

Chemical Research in Toxicology, 2022

Human TDP1, APE1 and TREX1 repair 3'-DNA-peptide/protein cross-links arising from abasic sites in vitro.

Wei X et al.

Nucleic Acids Research, 2022

TREX1 degrades the 3' end of the small DNA oligonucleotide products of nucleotide excision repair in human cells.

Kim SH et al.

Nucleic Acids Research, 2022

Immunogenetics of Lupus Erythematosus.

Ünlü B et al.

Advances in Experimental Medicine and Biology, 2022

A Novel Type I Interferon Primed Dendritic Cell Subpopulation in TREX1 Mutant Chilblain Lupus Patients.

Eugster A et al.

Frontiers in Immunology, 2022

An Aicardi-Goutières Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice.

Inoue M et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

Compromised nuclear envelope integrity drives TREX1-dependent DNA damage and tumor cell invasion.

Nader GPF et al.

Cell, 2021

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