Plasminogen-Aktivator-Inhibitor 1
Das SERPINE1-Gen kodiert den Plasminogen-Aktivator-Inhibitor 1 einem Regulator der Blutgerinnung. Mutationen führen zu einer autosomal dominanten oder rezessiven Blutungsneigung. Hohe Konzentrationen diese Proteins führen zur Thrombophilie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Yamada N et al. (2000) The 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene is associated with severe preeclampsia.
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2. |
Carmeliet P et al. (1997) Inhibitory role of plasminogen activator inhibitor-1 in arterial wound healing and neointima formation: a gene targeting and gene transfer study in mice.
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3. |
Margaglione M et al. (1998) The PAI-1 gene locus 4G/5G polymorphism is associated with a family history of coronary artery disease.
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4. |
Pastinen T et al. (1998) Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.
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5. |
Hermans PW et al. (1999) 4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene and outcome of meningococcal disease. Meningococcal Research Group.
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6. |
Westendorp RG et al. (1999) Variation in plasminogen-activator-inhibitor-1 gene and risk of meningococcal septic shock.
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7. |
Yoon S et al. (1999) Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms.
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8. |
Halleux CM et al. (1999) Hormonal control of plasminogen activator inhibitor-1 gene expression and production in human adipose tissue: stimulation by glucocorticoids and inhibition by catecholamines.
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9. |
Rossaak JI et al. (2000) Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms.
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10. |
Boccaccio C et al. (2005) The MET oncogene drives a genetic programme linking cancer to haemostasis.
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11. |
Kohler HP et al. (2000) Plasminogen-activator inhibitor type 1 and coronary artery disease.
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12. |
Crandall DL et al. (2000) Autocrine regulation of human preadipocyte migration by plasminogen activator inhibitor-1.
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13. |
Maemura K et al. (2000) CLIF, a novel cycle-like factor, regulates the circadian oscillation of plasminogen activator inhibitor-1 gene expression.
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14. |
Fujita T et al. (2001) Paradoxical rescue from ischemic lung injury by inhaled carbon monoxide driven by derepression of fibrinolysis.
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15. |
Yamamoto K et al. (2002) Plasminogen activator inhibitor-1 is a major stress-regulated gene: implications for stress-induced thrombosis in aged individuals.
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16. |
Yamada Y et al. (2002) Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.
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17. |
Patel N et al. (2011) Involvement of miR-30c and miR-301a in immediate induction of plasminogen activator inhibitor-1 by placental growth factor in human pulmonary endothelial cells.
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18. |
Glueck CJ et al. (1993) Familial high plasminogen activator inhibitor with hypofibrinolysis, a new pathophysiologic cause of osteonecrosis?
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19. |
Sawathiparnich P et al. (2003) Effect of combined AT1 receptor and aldosterone receptor antagonism on plasminogen activator inhibitor-1.
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20. |
Fay WP et al. (1992) Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation.
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21. |
Fay WP et al. (1997) Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene.
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22. |
Zhang ZY et al. (2005) A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide.
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23. |
Mehta R et al. (2008) Plasminogen activator inhibitor type 1 deficiency.
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24. |
Erickson LA et al. (1990) Development of venous occlusions in mice transgenic for the plasminogen activator inhibitor-1 gene.
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25. |
Pannekoek H et al. (1986) Endothelial plasminogen activator inhibitor (PAI): a new member of the Serpin gene family.
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26. |
Engesser L et al. (1989) Elevated plasminogen activator inhibitor (PAI), a cause of thrombophilia? A study in 203 patients with familial or sporadic venous thrombophilia.
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27. |
Loskutoff DJ et al. (1987) Structure of the human plasminogen activator inhibitor 1 gene: nonrandom distribution of introns.
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28. |
van Zonneveld AJ et al. (1988) Type 1 plasminogen activator inhibitor gene: functional analysis and glucocorticoid regulation of its promoter.
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29. |
Klinger KW et al. (1987) Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.
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30. |
Ny T et al. (1986) Cloning and sequence of a cDNA coding for the human beta-migrating endothelial-cell-type plasminogen activator inhibitor.
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31. |
Ginsburg D et al. (1986) cDNA cloning of human plasminogen activator-inhibitor from endothelial cells.
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32. |
Nilsson IM et al. (1985) Two different mechanisms in patients with venous thrombosis and defective fibrinolysis: low concentration of plasminogen activator or increased concentration of plasminogen activator inhibitor.
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33. |
Eriksson P et al. (1995) Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction.
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34. |
Dawson SJ et al. (1993) The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells.
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35. |
OMIM.ORG article
Omim 173360
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36. |
NCBI article
NCBI 5054
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37. |
Orphanet article
Orphanet ID 118613
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38. |
Wikipedia Artikel
Wikipedia DE (Plasminogen-Aktivator-Inhibitor)
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Update: 14. August 2020