|
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 |
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
|
10827106 |
2000 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The TREX1 proteins containing R114H and the insertion mutations aspartate at position 201 (D201ins) and alanine at position 124 (A124ins), found in compound heterozygous AGS with R114H, were prepared and the DNA degradation activities were tested.
|
21937424 |
2011 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome.
|
17357087 |
2007 |
|
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 |
|
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 |
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 |
Trex1 is the major 3' DNA exonuclease in mammalian cells, and mutations in the human TREX1 gene can cause Aicardi-Goutières syndrome, characterized by perturbed immunity.
|
18045533 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
|
21862834 |
2012 |
|
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 |
BEFREE |
In a collaborative project, we have demonstrated TREX1 enzyme deficiency in Aicardi-Goutières syndrome.
|
19442247 |
2009 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
17660818 |
2007 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
MGD |
Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis.
|
15254239 |
2004 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide scan was performed in 10 families with a clinical diagnosis of AGS in whom linkage to AGS1 had been excluded.
|
15908569 |
2006 |
|
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 |
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 |
Here, we show that TREX1, encoding the major mammalian 3' --> 5' DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity.
|
16845398 |
2006 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding the RNaseH2 and TREX1 nucleases have been identified in patients with Aicardi-Goutieres syndrome (AGS).
|
19034401 |
2009 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
|
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 |
They found that TREX1-deficiency resulted in the intracellular accumulation of single stranded DNA resulting in chronic activation of the DNA damage response network, even in cells from Trex1-mutated AGS patients.
|
18406216 |
2008 |
|
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 |
Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as Aicardi-Goutières syndrome (AGS).
|
28325644 |
2017 |