ArticleBritish journal of haematology2020
Novel exomic rare variants associated with venous thrombosis.
Article in British journal of haematology, 2020. 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, 18 citations in OpenAlex.
- Characterization of the binding of skeletal muscle myosin to fibrin in trauma.The journal of trauma and acute care surgery · 2026Article
- Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.Blood advances · 2025Article
- RResearch and practice in thrombosis and haemostasis · 2025Review
- FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.International journal of biological sciences · 2025Review
- Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction.PLoS genetics · 2024Article
- Article
- Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.Circulation. Genomic and precision medicine · 2023Article
- Full-length plasma skeletal muscle myosin isoform deficiency is associated with coagulopathy in acutely injured patients.Journal of thrombosis and haemostasis : JTH · 2022Article
- Skeletal muscle myosin promotes coagulation by binding factor XI via its A3 domain and enhancing thrombin-induced factor XI activation.The Journal of biological chemistry · 2022Article
- Donor genetic variants as risk factors for thrombosis after liver transplantation: A genome-wide association study.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2021Article
- Epidemiology and Genetics of Venous Thromboembolism and Chronic Venous Disease.Circulation research · 2021Article
- Article
- Skeletal muscle myosin and cardiac myosin attenuate heparin's antithrombin-dependent anticoagulant activity.Journal of thrombosis and haemostasis : JTH · 2021Article
- Novel blood coagulation molecules: Skeletal muscle myosin and cardiac myosin.Journal of thrombosis and haemostasis : JTH · 2021Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate-adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma levels of anticoagulant glucosylceramide. Analysis of 50 chr17p13.1 MYH rare SNPs (clustered skeletal myosin heavy chain genes) using collapsing methods was associated with recurrent VTE (P = 2·70 ×10
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