Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
|
28750028 |
2017 |
Chilblain lupus 1
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
10 families with familial chilblain lupus related to TREX1 mutations were reported previously in the literature, in which homozygote D18N variant in TREX1 gene was related to chilblains with cerebral vasculitis.
|
28919362 |
2017 |
Chilblain lupus 1
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Consistently, mutations in TREX1 are linked with autoimmune diseases such as systemic lupus erythematosus, Aicardi-Goutières syndrome (AGS) and familial chilblain lupus.
|
28334850 |
2017 |
Chilblain lupus 1
|
0.790 |
Biomarker
|
disease |
CTD_human |
Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1.
|
27566796 |
2017 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
|
28089741 |
2017 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
|
27391121 |
2016 |
Chilblain lupus 1
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
A 44-year-old man with eye, kidney, and brain dysfunction.
|
26691497 |
2016 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
|
25848017 |
2015 |
Chilblain lupus 1
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TREX1, a 3' repair exonuclease that degrades cytosolic DNA, cause Aicardi-Goutières syndrome and chilblain lupus.
|
26223655 |
2015 |
Chilblain lupus 1
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Familial chilblain lupus is usually caused by a mutation in TREX1 (3' repair exonuclease 1).
|
25517357 |
2015 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
|
26182405 |
2015 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
|
24300241 |
2014 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
|
25582466 |
2014 |
Chilblain lupus 1
|
0.790 |
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 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
|
23881107 |
2013 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
|
23989343 |
2013 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
|
22829693 |
2013 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
|
21937424 |
2011 |
Chilblain lupus 1
|
0.790 |
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 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
|
21270825 |
2011 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
|
20871604 |
2010 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
Chilblain lupus 1
|
0.790 |
Biomarker
|
disease |
BEFREE |
Chilblain lupus has been linked to the deficiency of 3'-5' repair exonuclease Trex1 that metabolizes DNA reverse-transcribed from ERV.
|
20644481 |
2010 |
Chilblain lupus 1
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
|
18805785 |
2008 |