Quebec platelet disorder

Common Name(s)

Quebec platelet disorder

Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by {1:Diamandis et al., 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Quebec platelet disorder" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Quebec platelet disorder" returned 8 free, full-text research articles on human participants. First 3 results:

The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes.
 

Author(s): Catherine P M Hayward, Minggao Liang, Subia Tasneem, Asim Soomro, John S Waye, Andrew D Paterson, Georges E Rivard, Michael D Wilson

Journal:

 

Quebec Platelet disorder (QPD) is a unique bleeding disorder that markedly increases urokinase plasminogen activator (uPA) in megakaryocytes and platelets but not in plasma or urine. The cause is tandem duplication of a 78 kb region of chromosome 10 containing PLAU (the uPA gene) ...

Last Updated: 16 Mar 2017

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Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.
 

Author(s): Andrew D Paterson, Johanna M Rommens, Bhupinder Bharaj, Jessica Blavignac, Isidro Wong, Maria Diamandis, John S Waye, Georges E Rivard, Catherine P M Hayward

Journal: Blood. 2010 Feb;115(6):1264-6.

 

Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder linked to a region on chromosome 10 that includes PLAU, the urokinase plasminogen activator gene. QPD increases urokinase plasminogen activator mRNA levels, particularly during megakaryocyte differentiation, ...

Last Updated: 12 Feb 2010

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Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation.
 

Author(s): D Kika Veljkovic, Georges E Rivard, Maria Diamandis, Jessica Blavignac, Elisabeth M Cramer-Bordé, Catherine P M Hayward

Journal: Blood. 2009 Feb;113(7):1535-42.

 

Quebec platelet disorder (QPD) is an inherited bleeding disorder associated with increased urokinase plasminogen activator (uPA) in platelets but not in plasma, intraplatelet plasmin generation, and alpha-granule protein degradation. These abnormalities led us to investigate uPA expression ...

Last Updated: 17 Feb 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Quebec platelet disorder" returned 0 free, full-text review articles on human participants.

 
 
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