Condition: Chilblain lupus 1
rs77371662 in
ATRIP;ATRIP-TREX1;TREX1 gene and
Chilblain lupus 1
PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
rs79318303 in
ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and
Chilblain lupus 1
PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].
PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
rs121908117 in
ATRIP;TREX1;ATRIP-TREX1 gene and
Chilblain lupus 1
PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
PMID 17440703 2007 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.
PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
PMID 25848017 2015 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.
PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
rs1553820518 in
SHISA5;ATRIP;TREX1;ATRIP-TREX1 gene and
Chilblain lupus 1
PMID 17660820 2007 C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
PMID 26691497 2016 A 44-year-old man with eye, kidney, and brain dysfunction.