Condition: AICARDI-GOUTIERES SYNDROME 1


rs760838030 in ATRIP-TREX1;ATRIP;TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs76224909 in ATRIP-TREX1;TREX1;ATRIP;SHISA5 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

rs760594164 in ATRIP;ATRIP-TREX1;TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 23602593 2013 A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

rs79318303 in ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and AICARDI-GOUTIERES SYNDROME 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 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

rs121908117 in ATRIP;TREX1;ATRIP-TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

PMID 25848017 2015 Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.

PMID 17440703 2007 A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 25138095 2014 Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.

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 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

rs1553820518 in SHISA5;ATRIP;TREX1;ATRIP-TREX1 gene and AICARDI-GOUTIERES SYNDROME 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.

rs74689946 in TREX1;ATRIP-TREX1;ATRIP gene and AICARDI-GOUTIERES SYNDROME 1 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.