|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease.
|
25848017 |
2015 |
|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
|
23989343 |
2013 |
|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
|
22829693 |
2013 |
|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
|
20871604 |
2010 |
|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
|
18805785 |
2008 |
|
rs121908117
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
|
17357087 |
2007 |
|
rs121908117
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus.
|
17440703 |
2007 |
|
rs121908117
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus.
|
17440703 |
2007 |
|
rs121908117
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus.
|
17440703 |
2007 |