Deoxynucleosid-Triphosphate-Triphosphohydrolase SAMHD1
Das SAMHD1-Gen kodiert ein Protein, welches in der Steuerung der angeborenen Immunität insbesondere der Regulation von TNF-alpha eine wichtige Rolle spielt. Mutationen führe zum autosomal rezessiven Aicardi-Goutières-Syndrom 5 und zum dominanten familiären Chilblain-Lupus 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Li N et al. (2000) Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells.
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2. |
Rice GI et al. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
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3. |
Dale RC et al. (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
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4. |
Leshinsky-Silver E et al. (2011) A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
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5. |
Ravenscroft JC et al. (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
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6. |
Laguette N et al. (2011) SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.
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7. |
Hrecka K et al. (2011) Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.
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8. |
Goldstone DC et al. (2011) HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
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9. |
Lim ES et al. (2012) The ability of primate lentiviruses to degrade the monocyte restriction factor SAMHD1 preceded the birth of the viral accessory protein Vpx.
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10. |
Laguette N et al. (2012) Evolutionary and functional analyses of the interaction between the myeloid restriction factor SAMHD1 and the lentiviral Vpx protein.
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11. |
Lahouassa H et al. (2012) SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates.
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12. |
Rehwinkel J et al. (2013) SAMHD1-dependent retroviral control and escape in mice.
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13. |
Behrendt R et al. (2013) Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.
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14. |
Crow YJ et al. (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
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15. |
Coquel F et al. (2018) SAMHD1 acts at stalled replication forks to prevent interferon induction.
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Update: 14. August 2020