ArticleScientific reports2022
A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 28 citations in OpenAlex.
- Elective Caesarean Delivery in a Patient With May-Hegglin Anomaly: Its Concerns and Review of the Literature.Cureus · 2025Article
- Article
- Leveraging a neutrophil-derived PCD signature to predict and stratify patients with acute myocardial infarction: from AI prediction to biological interpretation.Journal of translational medicine · 2024Article
- A novel technique to quantify the kinetics of blood clot contraction based on the expulsion of fluorescently labeled albumin into serum.Journal of thrombosis and haemostasis : JTH · 2024Article
- Megakaryocyte-induced contraction of plasma clots: cellular mechanisms and structural mechanobiology.Blood · 2024Article
- Exploring the nexus between MYH9 and tumors: novel insights and new therapeutic opportunities.Frontiers in cell and developmental biology · 2024Review
- Role of red blood cells in clinically relevant bleeding tendencies and complications.Journal of thrombosis and haemostasis : JTH · 2023Review
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Mutations in the MYH9 gene result in macrothrombocytopenia often associated with hemorrhages. Here, we studied the function and structure of platelets in three family members with a heterozygous mutation R1933X in the MYH9 gene, characteristic of closely related disorders known as the May-Hegglin anomaly and Sebastian syndrome. The examination included complete blood count, blood smear microscopy, platelet flow cytometry (expression of P-selectin and active integrin αIIbβ3 before and after activation), the kinetics of platelet-driven contraction (retraction) of blood clots, as well as scanning/transmission electron microscopy of platelets. Despite severe thrombocytopenia ranging (36-86) × 10
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