|
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 |
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 |
The X-ray crystal structures of the TREX1 wt apoprotein, the dominant D200H, D200N and D18N homodimer mutants derived from AGS and FCL patients, as well as the recessive V201D homodimer mutant have been determined.
|
22071149 |
2012 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
|
16845398 |
2006 |
|
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 |
AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex.
|
17846997 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We present a second case of a de novo heterozygous TREX1 mutation causing an autosomal dominant phenotype of Aicardi-Goutières syndrome with additional features indicative of mitochondrial dysfunction.
|
20799324 |
2010 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus.
|
17357087 |
2007 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
|
16845398 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
TREX1 acts in concert with the SET complex in granzyme A-mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus.
|
17660818 |
2007 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The TREX1R114H/R114H homodimer has dysfunctional dsDNA and ssDNA degradation activities and does not detectibly inhibit the TREX1WT enzyme, whereas the TREX1WT/R114H heterodimer has a functional dsDNA degradation activity, supporting the recessive genetics of TREX1 R114H in AGS.
|
18805785 |
2008 |
|
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Three mutant forms of TREX1 protein identified in patients with Aicardi-Goutières syndrome were prepared and the measured activities show that these specific mutations reduce enzyme activity by 4-35,000-fold.
|
17293595 |
2007 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Aicardi-Goutières syndrome (AGS) is a rare inherited autoimmune disease caused by mutations in genes encoding the RNase H2 subunits A, B, and C; the DNase three prime repair exonuclease 1 (TREX1); and sterile alpha motif (SAM) domain and HD domain-containing protein 1 (SAMHD1).
|
22461318 |
2012 |
|
AICARDI-GOUTIERES SYNDROME
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
TREX1 mutations at amino acid positions Asp-18 and Asp-200 in familial chilblain lupus and Aicardi-Goutières syndrome elicit dominant immune dysfunction phenotypes.
|
21808053 |
2011 |