Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

PAI-Transkriptionsmodulator

Hohe Konzentrationen des Plasminogen-Aktivator-Inhibitors (PAI) sind mit Thrombophilie assoziiert. Diese hohen Konzentrationen scheinen durch die Transkription beeinflusst zu sein. Solche transkriptionemodulatorischen Einheiten werden innerhalb des Gens vermutet.

Gliederung

Venöse thromboembolische Erkrankungen
Autosomal dominanter Protein C-Mangel
Autosomal dominanter Protein S-Mangel
Autosomal rezessiver Protein C-Mangel
Autosomal rezessiver Protein S-Mangel
F2
F5
Faktor XII-Mangel
HABP2
MTHFR
PAI-Transkriptionsmodulator
SERPINE1
Protein Z-Mangel
SERPINC1
THBD
VKORC1

Referenzen:

1.

Sawathiparnich P et. al. (2003) Effect of combined AT1 receptor and aldosterone receptor antagonism on plasminogen activator inhibitor-1.

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2.

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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3.

Erickson LA et. al. (1990) Development of venous occlusions in mice transgenic for the plasminogen activator inhibitor-1 gene.

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4.

Pannekoek H et. al. (1986) Endothelial plasminogen activator inhibitor (PAI): a new member of the Serpin gene family.

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5.

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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6.

Loskutoff DJ et. al. (1987) Structure of the human plasminogen activator inhibitor 1 gene: nonrandom distribution of introns.

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7.

van Zonneveld AJ et. al. (1988) Type 1 plasminogen activator inhibitor gene: functional analysis and glucocorticoid regulation of its promoter.

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8.

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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9.

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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10.

Ginsburg D et. al. (1986) cDNA cloning of human plasminogen activator-inhibitor from endothelial cells.

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11.

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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12.

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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13.

Glueck CJ et. al. (1993) Familial high plasminogen activator inhibitor with hypofibrinolysis, a new pathophysiologic cause of osteonecrosis?

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14.

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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15.

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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16.

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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17.

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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18.

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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19.

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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20.

Westendorp RG et. al. (1999) Variation in plasminogen-activator-inhibitor-1 gene and risk of meningococcal septic shock.

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21.

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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22.

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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23.

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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24.

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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25.

Kohler HP et. al. (2000) Plasminogen-activator inhibitor type 1 and coronary artery disease.

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26.

Crandall DL et. al. (2000) Autocrine regulation of human preadipocyte migration by plasminogen activator inhibitor-1.

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27.

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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28.

Fujita T et. al. (2001) Paradoxical rescue from ischemic lung injury by inhaled carbon monoxide driven by derepression of fibrinolysis.

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29.

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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30.

Yamada Y et. al. (2002) Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.

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31.

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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32.

Boccaccio C et. al. (2005) The MET oncogene drives a genetic programme linking cancer to haemostasis.

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33.

Mehta R et. al. (2008) Plasminogen activator inhibitor type 1 deficiency.

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34.

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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