{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["23(1)"],"submitter":["Chongxia Z"],"pubmed_abstract":["<h4>Background</h4>Hereditary antithrombin deficiency (HATD) is a rare disease caused by mutations in the SERPINC1 gene characterized with venous thromboembolism and/or arterial thrombotic events. We identified a proband with recurrent arterial and venous thrombosis at multiple anatomical sites and subsequently performed comprehensive thrombophilia screening and genetic analysis within the kindred.<h4>Methods</h4>Mutation screening of the SERPINC1 gene in the proband and family members was conducted using Sanger sequencing. Wild-type and mutant (c.473T > A; p.Leu158Gln) SERPINC1 expression plasmids were constructed and transiently transfected into HEK293T cells. Functional consequences of the variant were assessed through immunoblotting, immunofluorescence, enzyme-linked immunosorbent assa"],"journal":["Thrombosis journal"],"pagination":["113"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12632145"],"repository":["biostudies-literature"],"pubmed_title":["Clinical and functional characterization of a novel heterozygous mutation c.473T &gt; A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia."],"pmcid":["PMC12632145"],"pubmed_authors":["Lina K","Kefan M","Yihai L","Chongxia Z","Long Y","Zhu L","Yanan X","Biao X","Xuemei G","Meijuan Z","Yong W"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and functional characterization of a novel heterozygous mutation c.473T &gt; A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.","description":"<h4>Background</h4>Hereditary antithrombin deficiency (HATD) is a rare disease caused by mutations in the SERPINC1 gene characterized with venous thromboembolism and/or arterial thrombotic events. We identified a proband with recurrent arterial and venous thrombosis at multiple anatomical sites and subsequently performed comprehensive thrombophilia screening and genetic analysis within the kindred.<h4>Methods</h4>Mutation screening of the SERPINC1 gene in the proband and family members was conducted using Sanger sequencing. Wild-type and mutant (c.473T > A; p.Leu158Gln) SERPINC1 expression plasmids were constructed and transiently transfected into HEK293T cells. Functional consequences of the variant were assessed through immunoblotting, immunofluorescence, enzyme-linked immunosorbent assa","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-05T17:13:58.984Z","creation":"2026-05-19T03:11:43.594Z"},"accession":"S-EPMC12632145","cross_references":{"pubmed":["41267092"],"doi":["10.1186/s12959-025-00801-0"]}}