Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Plasminogen-Aktivator-Inhibitor-Mangel
SERPINE1
PAI-Transkriptionsmodulator
SERPINE1

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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