3-prime Reperatur-Exonuclease 1
Das TREX1-Gen kodiert eine Exonuklease, welche bei DNA-Reperaturvorgängen zum Einsatz kommt. Mutationen führen zu autosomal dominanten Erkrankungen wie familiärem Chilblain-Lupus 1, Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen und Aicardi-Goutières-Syndrom 1. Letzteres kann auch rezessiv auftreten.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lee-Kirsch MA et al. (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
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2. |
Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.
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3. |
Peschke K et al. (2016) Loss of Trex1 in Dendritic Cells Is Sufficient To Trigger Systemic Autoimmunity.
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4. |
Cuadrado E et al. (2015) Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
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5. |
Ablasser A et al. (2014) TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.
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6. |
Fye JM et al. (2011) Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.
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7. |
Yan N et al. (2010) The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
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8. |
Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
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9. |
Lehtinen DA et al. (2008) The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
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10. |
Stetson DB et al. (2008) Trex1 prevents cell-intrinsic initiation of autoimmunity.
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11. |
Richards A et al. (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
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12. |
Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
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13. |
Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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14. |
Rice G et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
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15. |
Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
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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.
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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.
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18. |
Morita M et al. (2004) Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis.
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19. |
Mazur DJ et al. (2001) Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.
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20. |
Höss M et al. (1999) A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein.
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21. |
Mazur DJ et al. (1999) Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases.
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22. |
Jen J et al. (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).
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23. |
Grand MG et al. (1988) Cerebroretinal vasculopathy. A new hereditary syndrome.
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24. |
Storimans CW et al. () A new autosomal dominant vascular retinopathy syndrome.
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Update: 14. August 2020