3-prime repair exonuclease 1
The TREX1 gene ecodes an exonuclease involved in DNA repair. Mutations cause various autosomal dominant disorders including Familial chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, and Aicardi-Goutieres syndrome 1, the latter also recssive.
Genetests:
Related Diseases:
References:
1. |
Lee-Kirsch MA et al. (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
|
2. |
Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.
|
3. |
Peschke K et al. (2016) Loss of Trex1 in Dendritic Cells Is Sufficient To Trigger Systemic Autoimmunity.
|
4. |
Cuadrado E et al. (2015) Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
|
5. |
Ablasser A et al. (2014) TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.
|
6. |
Fye JM et al. (2011) Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.
|
7. |
Yan N et al. (2010) The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
|
8. |
Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
9. |
Lehtinen DA et al. (2008) The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
|
10. |
Stetson DB et al. (2008) Trex1 prevents cell-intrinsic initiation of autoimmunity.
|
11. |
Richards A et al. (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
|
12. |
Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
13. |
Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
14. |
Rice G et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
|
15. |
Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
|
16. |
Crow YJ et al. (2006) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
|
17. |
Chowdhury D et al. (2006) The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death.
|
18. |
Morita M et al. (2004) Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis.
|
19. |
Mazur DJ et al. (2001) Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.
|
20. |
Höss M et al. (1999) A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein.
|
21. |
Mazur DJ et al. (1999) Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases.
|
22. |
Jen J et al. (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).
|
23. |
Grand MG et al. (1988) Cerebroretinal vasculopathy. A new hereditary syndrome.
|
24. |
Storimans CW et al. () A new autosomal dominant vascular retinopathy syndrome.
|
Update: Aug. 14, 2020