×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
28750028
2017
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
28089741
2017
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
GeneticVariation
disease
CLINVAR
A 44-year-old man with eye, kidney, and brain dysfunction.
26691497
2016
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
27391121
2016
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
25848017
2015
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
26182405
2015
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
25582466
2014
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
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
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
23989343
2013
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
23881107
2013
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
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
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
21270825
2011
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
21937424
2011
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
20799324
2010
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
20131292
2010
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
20871604
2010
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
18805785
2008
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
GeneticVariation
disease
CLINVAR
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
17660820
2007
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
17846997
2007
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
17293595
2007
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
17440703
2007
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
0.100
CausalMutation
disease
CLINVAR
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
16845398
2006