ArticleHaemophilia : the official journal of the World Federation of Hemophilia2017
Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect.
Article in Haemophilia : the official journal of the World Federation of Hemophilia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Article
- Defective RAB31-mediated megakaryocytic early endosomal trafficking of VWF, EGFR, and M6PR in RUNX1 deficiency.Blood advances · 2022Article
- Validation and clinical application of transactivation assays for RUNX1 variant classification.Blood advances · 2022Article
- RUNX-1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells.Blood · 2021Article
- Bleeding risks for uncharacterized platelet function disorders.Research and practice in thrombosis and haemostasis · 2020Article
- Transcription Factor RUNX1 Regulates PlateletCirculation · 2017Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundRUNX1 haplodeficiency is associated with thrombocytopenia, platelet dysfunction and a predisposition to acute leukaemia. Platelets possess three distinct types of granules and secretory processes involving dense granules (DG), α-granules and vesicles or lysosomes containing acid hydrolases (AH). Dense granules and granule deficiencies have been reported in patients with RUNX1 mutations. Little is known regarding the secretion from AH-containing vesicles. METHODS AND
resultsWe studied two related patients with a RUNX1 mutation, easy bruising, and mild thrombocytopenia. Platelet aggregation and
conclusionsThese studies provide the first evidence in patients with a RUNX1 mutation for a defect in AH (lysosomal) secretion, and for a global defect in secretion involving all three types of platelet granules that is unrelated to a granule content deficiency. They highlight the pleiotropic effects and multiple platelet defects associated with RUNX1 mutations.
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