{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T17:18:12Z","timestamp":1782235092446,"version":"3.54.5"},"reference-count":65,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,5,3]],"date-time":"2025-05-03T00:00:00Z","timestamp":1746230400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008750","name":"Shanghai Municipal Hospital Development Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900139"],"award-info":[{"award-number":["81900139"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82202581"],"award-info":[{"award-number":["82202581"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82270129"],"award-info":[{"award-number":["82270129"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170128"],"award-info":[{"award-number":["82170128"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82270128"],"award-info":[{"award-number":["82270128"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jthjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Thrombosis and Haemostasis"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.jtha.2025.04.022","type":"journal-article","created":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T19:20:42Z","timestamp":1746559242000},"page":"2508-2521","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities"],"prefix":"10.1016","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9879-0829","authenticated-orcid":false,"given":"Changming","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huayang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiulan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobo","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2289-5760","authenticated-orcid":false,"given":"Jing","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jtha.2025.04.022_bib1","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1111\/j.1538-7836.2012.04858.x","article-title":"Low borderline plasma levels of antithrombin, protein C and protein S are risk factors for venous thromboembolism","volume":"10","author":"Bucciarelli","year":"2012","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/jth.14648","article-title":"Recommendations for clinical laboratory testing for antithrombin deficiency; communication from the SSC of the ISTH","volume":"18","author":"Van Cott","year":"2020","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib3","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/j.thromres.2015.03.013","article-title":"Antithrombin heparin binding site deficiency: a challenging diagnosis of a not so benign thrombophilia","volume":"135","author":"Orlando","year":"2015","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2025.04.022_bib4","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1182\/blood.2021014708","article-title":"Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays","volume":"140","author":"de la Morena\u2013Barrio","year":"2022","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.04.022_bib5","doi-asserted-by":"crossref","first-page":"2696","DOI":"10.1182\/blood.V92.8.2696","article-title":"Antithrombins Wibble and Wobble (T85M\/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation","volume":"92","author":"Beauchamp","year":"1998","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.04.022_bib6","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1160\/TH15-11-0871","article-title":"Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency","volume":"116","author":"Navarro-Fern\u00e1ndez","year":"2016","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib7","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/ajh.26413","article-title":"Molecular and clinical characterization of transient antithrombin deficiency: a new concept in congenital thrombophilia","volume":"97","author":"Bravo\u2013P\u00e9rez","year":"2022","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jtha.2025.04.022_bib8","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.thromres.2018.07.008","article-title":"The genetics of antithrombin","volume":"169","author":"Corral","year":"2018","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2025.04.022_bib9","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1515\/cclm-2014-0246","article-title":"Progressive chromogenic anti-factor Xa assay and its use in the classification of antithrombin deficiencies","volume":"52","author":"Kov\u00e1cs","year":"2014","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.jtha.2025.04.022_bib10","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1111\/j.1538-7836.2010.03750.x","article-title":"Influence of natural SERPINC1 mutations on ex vivo thrombin generation","volume":"8","author":"Alhenc-Gelas","year":"2010","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib11","first-page":"881","article-title":"[Chinese guidelines for diagnosis, prevention and treatment of thrombophilia (2021)]","volume":"42","year":"2021","journal-title":"Zhonghua Xue Ye Xue Za Zhi"},{"key":"10.1016\/j.jtha.2025.04.022_bib12","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.thromres.2013.07.013","article-title":"Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients","volume":"132","author":"Ding","year":"2013","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2025.04.022_bib13","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1055\/a-2350-8338","article-title":"Heterozygous prothrombin mutation-associated thrombophilia","volume":"125","author":"Wu","year":"2025","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib14","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/jhg.2012.66","article-title":"Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification","volume":"57","author":"Du","year":"2012","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jtha.2025.04.022_bib15","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1159\/000071636","article-title":"Calibrated automated thrombin generation measurement in clotting plasma","volume":"33","author":"Hemker","year":"2003","journal-title":"Pathophysiol Haemost Thromb"},{"key":"10.1016\/j.jtha.2025.04.022_bib16","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1200\/CCI.19.00132","article-title":"Integrated informatics analysis of cancer-related variants","volume":"4","author":"Pagel","year":"2020","journal-title":"JCO Clin Cancer Inform"},{"key":"10.1016\/j.jtha.2025.04.022_bib17","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1055\/s-0040-1710590","article-title":"Thr90Ser mutation in antithrombin is associated with recurrent thrombosis in a heterozygous carrier","volume":"120","author":"Lu","year":"2020","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib18","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S0304-4165(01)00189-1","article-title":"Probing the molecular basis of factor Xa specificity by mutagenesis of the serpin, antithrombin","volume":"1528","author":"Rezaie","year":"2001","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jtha.2025.04.022_bib19","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/0076-6879(93)22033-C","article-title":"Kinetic characterization of heparin-catalyzed and uncatalyzed inhibition of blood coagulation proteinases by antithrombin","volume":"222","author":"Olson","year":"1993","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.jtha.2025.04.022_bib20","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/pro.5560070215","article-title":"Reactivities of the S2 and S3 subsite residues of thrombin with the native and heparin-induced conformers of antithrombin","volume":"7","author":"Rezaie","year":"1998","journal-title":"Protein Sci"},{"key":"10.1016\/j.jtha.2025.04.022_bib21","doi-asserted-by":"crossref","first-page":"34049","DOI":"10.1074\/jbc.M114.611707","article-title":"Conformational activation of antithrombin by heparin involves an altered exosite interaction with protease","volume":"289","author":"Izaguirre","year":"2014","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib22","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jtha.2025.04.022_bib23","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1186\/s12959-023-00571-7","article-title":"Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report","volume":"21","author":"Huang","year":"2023","journal-title":"Thromb J"},{"key":"10.1016\/j.jtha.2025.04.022_bib24","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/j.thromres.2015.04.012","article-title":"Puzzling questions on antithrombin: diagnostic limitations and real incidence in venous and arterial thrombosis","volume":"135","author":"Corral","year":"2015","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2025.04.022_bib25","doi-asserted-by":"crossref","first-page":"5314","DOI":"10.1182\/blood-2008-10-184879","article-title":"Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives","volume":"113","author":"Lijfering","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.04.022_bib26","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1160\/TH14-05-0446","article-title":"Genetic analysis should be included in clinical practice when screening for antithrombin deficiency","volume":"113","author":"Zeng","year":"2015","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib27","doi-asserted-by":"crossref","DOI":"10.1016\/j.rpth.2023.102157","article-title":"Congenital thrombophilia in East-Asian venous thromboembolism population: a systematic review and meta-analysis","volume":"7","author":"Zhu","year":"2023","journal-title":"Res Pract Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib28","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1111\/ijlh.12146","article-title":"Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients","volume":"36","author":"Gu","year":"2014","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.jtha.2025.04.022_bib29","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S0049-3848(00)00265-6","article-title":"Protein C and protein S deficiencies are the most important risk factors associated with thrombosis in Chinese venous thrombophilic patients in Taiwan","volume":"99","author":"Shen","year":"2000","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2025.04.022_bib30","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1160\/TH11-03-0184","article-title":"Venous thromboembolism in Asia\u2014an unrecognised and under-treated problem?","volume":"106","author":"Angchaisuksiri","year":"2011","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib31","first-page":"868","article-title":"Antithrombin deficiency as a still underdiagnosed thrombophilia: a primer for internists","volume":"130","author":"Bravo\u2013P\u00e9rez","year":"2020","journal-title":"Pol Arch Intern Med"},{"key":"10.1016\/j.jtha.2025.04.022_bib32","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/0167-4838(82)90307-7","article-title":"Inhibition of human factor Xa by various plasma protease inhibitors","volume":"701","author":"Ellis","year":"1982","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jtha.2025.04.022_bib33","doi-asserted-by":"crossref","first-page":"349","DOI":"10.3109\/00365517009046245","article-title":"Comparison of progressive antithrombin activity and the concentration of three thrombin inhibitors in human plasma","volume":"26","author":"Abildgaard","year":"1970","journal-title":"Scand J Clin Lab Invest"},{"key":"10.1016\/j.jtha.2025.04.022_bib34","doi-asserted-by":"crossref","first-page":"26950","DOI":"10.1016\/S0021-9258(19)74202-1","article-title":"Kinetics of factor Xa inhibition by tissue factor pathway inhibitor","volume":"268","author":"Huang","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib35","first-page":"265","article-title":"Antifactor Xa activity measured with amidolytic methods","volume":"5","author":"\u00d8deg\u00e5rdO","year":"1976","journal-title":"Haemostasis"},{"key":"10.1016\/j.jtha.2025.04.022_bib36","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1538-7836.2007.02824.x","article-title":"Coagulation factors and the protein C system as determinants of thrombin generation in a normal population","volume":"6","author":"Dielis","year":"2008","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib37","doi-asserted-by":"crossref","first-page":"51433","DOI":"10.1074\/jbc.M309266200","article-title":"Localization of an antithrombin exosite that promotes rapid inhibition of factors Xa and IXa dependent on heparin activation of the serpin","volume":"278","author":"Izaguirre","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib38","doi-asserted-by":"crossref","first-page":"13424","DOI":"10.1074\/jbc.M600415200","article-title":"Residues Tyr253 and Glu255 in strand 3 of beta-sheet C of antithrombin are key determinants of an exosite made accessible by heparin activation to promote rapid inhibition of factors Xa and IXa","volume":"281","author":"Izaguirre","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib39","doi-asserted-by":"crossref","first-page":"33609","DOI":"10.1074\/jbc.M702462200","article-title":"Mechanism by which exosites promote the inhibition of blood coagulation proteases by heparin-activated antithrombin","volume":"282","author":"Izaguirre","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib40","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1038\/sj.emboj.7601089","article-title":"Antithrombin-S195A factor Xa-heparin structure reveals the allosteric mechanism of antithrombin activation","volume":"25","author":"Johnson","year":"2006","journal-title":"EMBO J"},{"key":"10.1016\/j.jtha.2025.04.022_bib41","doi-asserted-by":"crossref","first-page":"2898","DOI":"10.1021\/bi036145a","article-title":"Mutagenesis studies toward understanding the mechanism of differential reactivity of factor Xa with the native and heparin-activated antithrombin","volume":"43","author":"Rezaie","year":"2004","journal-title":"Biochemistry"},{"key":"10.1016\/j.jtha.2025.04.022_bib42","doi-asserted-by":"crossref","first-page":"15971","DOI":"10.1074\/jbc.M108131200","article-title":"Molecular determinants of the mechanism underlying acceleration of the interaction between antithrombin and factor Xa by heparin pentasaccharide","volume":"277","author":"Quinsey","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib43","doi-asserted-by":"crossref","first-page":"12083","DOI":"10.1021\/bi0011126","article-title":"Calcium enhances heparin catalysis of the antithrombin-factor Xa reaction by promoting the assembly of an intermediate heparin-antithrombin-factor Xa bridging complex. Demonstration by rapid kinetics studies","volume":"39","author":"Rezaie","year":"2000","journal-title":"Biochemistry"},{"key":"10.1016\/j.jtha.2025.04.022_bib44","doi-asserted-by":"crossref","first-page":"6780","DOI":"10.1021\/bi0255367","article-title":"Role of basic residues of the autolysis loop in the catalytic function of factor Xa","volume":"41","author":"Manithody","year":"2002","journal-title":"Biochemistry"},{"key":"10.1016\/j.jtha.2025.04.022_bib45","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1111\/jth.12606","article-title":"Role of the C-sheet in the maturation of N-glycans on antithrombin: functional relevance of pleiotropic mutations","volume":"12","author":"Aguila","year":"2014","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib46","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1182\/blood.V94.8.2590.420k40_2590_2594","article-title":"Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency","volume":"94","author":"van Boven","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.04.022_bib47","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/s12959-023-00548-6","article-title":"Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study","volume":"21","author":"Li","year":"2023","journal-title":"Thromb J"},{"key":"10.1016\/j.jtha.2025.04.022_bib48","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1055\/s-0038-1653885","article-title":"Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH","volume":"73","author":"Reitsma","year":"1995","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib49","doi-asserted-by":"crossref","first-page":"84417","DOI":"10.18632\/oncotarget.21365","article-title":"Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency","volume":"8","author":"Zeng","year":"2017","journal-title":"Oncotarget"},{"key":"10.1016\/j.jtha.2025.04.022_bib50","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1160\/TH07-01-0067","article-title":"Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk","volume":"98","author":"Rossi","year":"2007","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib51","doi-asserted-by":"crossref","first-page":"4028","DOI":"10.1182\/blood-2003-05-1560","article-title":"Heparin-induced substrate behavior of antithrombin Cambridge II","volume":"102","author":"Mushunje","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.04.022_bib52","doi-asserted-by":"crossref","first-page":"2271","DOI":"10.1182\/blood-2001-11-0047","article-title":"Discrepancy between antithrombin activity methods revealed in antithrombin Stockholm: do factor Xa-based methods overestimate antithrombin activity in some patients?","volume":"99","author":"Ungerstedt","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.04.022_bib53","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s12959-016-0109-x","article-title":"Thrombophilia in East Asian countries: are there any genetic differences in these countries?","volume":"14","author":"Miyata","year":"2016","journal-title":"Thromb J"},{"key":"10.1016\/j.jtha.2025.04.022_bib54","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1160\/TH15-04-0330","article-title":"Ethnic diversity in the genetics of venous thromboembolism","volume":"114","author":"Tang","year":"2015","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib55","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.thromres.2008.08.020","article-title":"Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis","volume":"124","author":"Miyata","year":"2009","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2025.04.022_bib56","doi-asserted-by":"crossref","first-page":"3142","DOI":"10.1111\/jth.15052","article-title":"Anticoagulant and signaling functions of antithrombin","volume":"18","author":"Rezaie","year":"2020","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib57","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1023\/A:1025377206600","article-title":"Mice deficient in heparan sulfate 3-O-sulfotransferase-1: normal hemostasis with unexpected perinatal phenotypes","volume":"19","author":"Shworak","year":"2002","journal-title":"Glycoconj J"},{"key":"10.1016\/j.jtha.2025.04.022_bib58","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1182\/bloodadvances.2024014756","article-title":"Physiological significance of antithrombin D-helix interaction with vascular GAGs","volume":"9","author":"Biswas","year":"2025","journal-title":"Blood Adv"},{"key":"10.1016\/j.jtha.2025.04.022_bib59","doi-asserted-by":"crossref","first-page":"18322","DOI":"10.1074\/jbc.M201173200","article-title":"A model for the stoichiometric regulation of blood coagulation","volume":"277","author":"Hockin","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.04.022_bib60","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1111\/jth.13372","article-title":"Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect","volume":"14","author":"de la Morena\u2013Barrio","year":"2016","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib61","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1055\/s-0042-1749345","article-title":"Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency","volume":"122","author":"de la Morena\u2013Barrio","year":"2022","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib62","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1160\/TH11-10-0701","article-title":"Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency","volume":"107","author":"de la Morena\u2013Barrio","year":"2012","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.04.022_bib63","article-title":"Identification of regulatory mutations in SERPINC1 affecting vitamin D response elements associated with antithrombin deficiency","volume":"11","author":"Toderici","year":"2016","journal-title":"PlOS One"},{"key":"10.1016\/j.jtha.2025.04.022_bib64","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1111\/bjh.15913","article-title":"Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods","volume":"186","author":"De la Morena\u2013Barrio","year":"2019","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jtha.2025.04.022_bib65","doi-asserted-by":"crossref","first-page":"795","DOI":"10.3390\/biom13050795","article-title":"The interaction of factor Xa and IXa with non-activated antithrombin in Michaelis complex: insights from enhanced-sampling molecular dynamics simulations","volume":"13","author":"Balogh","year":"2023","journal-title":"Biomolecules"}],"container-title":["Journal of Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1538783625002739?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1538783625002739?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T21:11:55Z","timestamp":1762549915000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1538783625002739"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":65,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S1538783625002739"],"URL":"https:\/\/doi.org\/10.1016\/j.jtha.2025.04.022","relation":{},"ISSN":["1538-7836"],"issn-type":[{"value":"1538-7836","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities","name":"articletitle","label":"Article Title"},{"value":"Journal of Thrombosis and Haemostasis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jtha.2025.04.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc. on behalf of International Society on Thrombosis and Haemostasis.","name":"copyright","label":"Copyright"}]}}