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| Thrombophilia with a likely monogenic cause v1.19 | MAST2 |
Arina Puzriakova gene: MAST2 was added gene: MAST2 was added to Thrombophilia. Sources: Literature Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAST2 were set to 33465109 Phenotypes for gene: MAST2 were set to Venous thromboembolism; Thrombophilia Review for gene: MAST2 was set to RED Added comment: - PMID: 33465109 (2021) - Single missense variant (p.Arg89Gln) identified in a French family with venous thrombosis and thrombophilia. Missense variant reviewed by in silico tools only. MAST2 knockdown was shown to affect regulation of TFP1 and SERPINE1 gene expression, known to regulate the haemostatic properties of endothelial cells. RNAi of MAST2 followed by RNAseq also showed expression changes in many other downstream targets. Sources: Literature |
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