ArticleBlood2009
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.
Article in Blood, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 60 citations in OpenAlex.
- Investigator-Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards.International journal of laboratory hematology · 2026Review
- Article
- Packaging of supplemented urokinase into alpha granules of in vitro-grown megakaryocytes for targeted nascent clot lysis.Blood advances · 2024Article
- Bleeding Disorders in Primary Fibrinolysis.International journal of molecular sciences · 2021Review
- Fibrinolysis and bleeding of unknown cause.Research and practice in thrombosis and haemostasis · 2021Article
- Prognostic Significance and Gene Co-Expression Network ofFrontiers in oncology · 2021Article
- Article
- Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.Journal of thrombosis and haemostasis : JTH · 2019Article
- Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease.Research and practice in thrombosis and haemostasis · 2018Review
- Thrombopoietin levels in Quebec platelet disorder-Implications for the mechanism of thrombocytopenia.International journal of laboratory hematology · 2018Article
- Article
- Gene therapy by allele selection in a mouse model of beta-thalassemia.The Journal of clinical investigation · 2011Article
- Current Strategies in Diagnosis of Inherited Storage Pool Defects.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2010Article
- Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Quebec platelet disorder (QPD) is an autosomal dominant disorder with high penetrance that is associated with increased risks for bleeding. The hallmark of QPD is a gain-of-function defect in fibrinolysis due to increased platelet content of urokinase plasminogen activator (uPA) without systemic fibrinolysis. We hypothesized that increased expression of uPA by differentiating QPD megakaryocytes is linked to PLAU. Genetic marker analyses indicated that QPD was significantly linked to a 2-Mb region on chromosome 10q containing PLAU with a maximum multipoint logarithm of the odds (LOD) score of +11 between markers D10S1432 and D10S1136. Analysis of PLAU by sequencing and Southern blotting excluded mutations within PLAU and its known regulatory elements as the cause of QPD. Analyses of uPA mRNA indicated that QPD distinctly increased transcript levels of the linked PLAU allele with megakaryocyte differentiation. These findings implicate a mutation in an uncharacterized cis element near PLAU as the cause of QPD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.