|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
|
28089741 |
2017 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
|
27391121 |
2016 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
|
26182405 |
2015 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
|
23881107 |
2013 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
|
21937424 |
2011 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
|
21270825 |
2011 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
|
18805785 |
2008 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.
|
18045533 |
2007 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
|
17357087 |
2007 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
|
17293595 |
2007 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.
|
17293595 |
2007 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
|
16845398 |
2006 |
|
AICARDI-GOUTIERES SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
|
16845398 |
2006 |