|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Individuals with microcephaly or <i>TREX1-</i>related Aicardi Goutières syndrome secondary were the most severely affected and less likely to reach milestones, including head control, sitting, and nonspecific mama/dada.
|
31559893 |
2020 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.
|
31644995 |
2019 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants of the three-prime repair exonuclease 1 (TREX1) -an exonuclease involved in DNA repair and degradation- have been previously found to increase susceptibility to Aicardi Goutieres syndrome, familial chilblain lupus and systemic lupus erythematosus.
|
31326279 |
2019 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Improper host immune activation leads to the development of the autoimmune disease Aicardi-Goutières syndrome (AGS), which is attributed to defined genetic mutations in such proteins as TREX1 and ADAR1.
|
29525183 |
2018 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Type I interferon (IFN) is strongly implicated in the pathogenesis of systemic lupus erythematosus (SLE) as well as rare monogenic interferonopathies such as Aicardi-Goutières syndrome (AGS), a disease attributed to mutations in the DNA exonuclease TREX1.
|
29781188 |
2018 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TREX1, SAMHD1 and ADAR1 are known LINE-1 repressors and when mutated cause the autoinflammatory disorder Aicardi-Goutières syndrome (AGS).
|
29959219 |
2018 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we generated a human AGS model that recapitulates disease-relevant phenotypes using pluripotent stem cells lacking TREX1.
|
28803918 |
2017 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Biallelic mutations of three prime repair exonuclease 1 (TREX1) cause the lupus-like disease Aicardi-Goutières syndrome in which accumulation of a yet unknown endogenous DNA substrate of TREX1 triggers a cyclic GMP-AMP synthase-dependent type I IFN response and systemic autoimmunity.
|
28835460 |
2017 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as Aicardi-Goutières syndrome (AGS).
|
28325644 |
2017 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene.
|
28089741 |
2017 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TREX1 mutants related to AGS were deficient in inducing ORF1p depletion and could not prevent L1-mediated DNA damage.
|
28334850 |
2017 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS.
|
28739201 |
2017 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We also found that ALRs do not contribute to autoimmune disease in the Trex1(-/-) mouse model of Aicardi-Goutières Syndrome.
|
27496731 |
2016 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
MGD |
The AIM2-like Receptors Are Dispensable for the Interferon Response to Intracellular DNA.
|
27496731 |
2016 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Aicardi-Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5.
|
25769924 |
2015 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TREX1, a 3' repair exonuclease that degrades cytosolic DNA, cause Aicardi-Goutières syndrome and chilblain lupus.
|
26223655 |
2015 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.
|
25731743 |
2015 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study is the first to report a nationwide AGS survey, which identified more patients with sporadic AGS carrying de novo dominant-type TREX1 mutations than expected.
|
24300241 |
2014 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenotypes associated with the clinical disorders familial chilblain lupus and Aicardi-Goutières syndrome.
|
24616097 |
2014 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
|
24183309 |
2013 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS.
|
23918923 |
2013 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
AGS-causing mutations have also been found in the genes of the 3'-exonuclease TREX1, the dNTP triphosphatase SAMHD1, as well as the RNA-editing enzyme ADAR1, defining defects in nucleic acid metabolism pathways as a common hallmark of AGS pathology.
|
23744109 |
2013 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Trex1 gene are being linked to the development of Aicardi-Goutières syndrome, an inflammatory disease of the brain, and systemic lupus erythematosus.
|
24218451 |
2013 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
MGD |
Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.
|
23972988 |
2013 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
A TREX1-mutated lymphocyte cell line was derived from an Aicardi-Goutières syndrome patient and co-cultured with neuroblastoma cells and vascular endothelial cells in the presence of interferon α. TREX1-mutated lymphocytes exerted marked inhibitory action on neuroblastoma cell growth.
|
22367235 |
2012 |