{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T06:41:58Z","timestamp":1740120118182,"version":"3.37.3"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T00:00:00Z","timestamp":1684627200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T00:00:00Z","timestamp":1684627200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670130","81970127","82070137","81900139","82270129","31770772"],"award-info":[{"award-number":["81670130","81970127","82070137","81900139","82270129","31770772"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1007\/s12185-023-03616-9","type":"journal-article","created":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T04:01:27Z","timestamp":1684641687000},"page":"201-209","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients"],"prefix":"10.1007","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1673-9788","authenticated-orcid":false,"given":"Rui","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shifeng","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongqing","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenman","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,5,21]]},"reference":[{"issue":"10040","key":"3616_CR1","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/S0140-6736(15)01123-X","volume":"388","author":"F Peyvandi","year":"2016","unstructured":"Peyvandi F, Garagiola I, Young G. The past and future of haemophilia: diagnosis, treatments, and its complications. Lancet. 2016;388(10040):187\u201397.","journal-title":"Lancet"},{"issue":"3","key":"3616_CR2","doi-asserted-by":"publisher","first-page":"e91","DOI":"10.1111\/j.1365-2516.2011.02588.x","volume":"18","author":"JS Stonebraker","year":"2012","unstructured":"Stonebraker JS, Bolton-Maggs PH, Michael Soucie J, Walker I, Brooker M. A study of variations in the reported haemophilia B prevalence around the world. Haemophilia. 2012;18(3):e91\u20134.","journal-title":"Haemophilia"},{"issue":"5","key":"3616_CR3","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1182\/blood-2018-07-820720","volume":"133","author":"GQ Perrin","year":"2019","unstructured":"Perrin GQ, Herzog RW, Markusic DM. Update on clinical gene therapy for hemophilia. Blood. 2019;133(5):407\u201314.","journal-title":"Blood"},{"issue":"3","key":"3616_CR4","first-page":"223","volume":"17","author":"M Franchini","year":"2019","unstructured":"Franchini M, Marano G, Pati I, Candura F, Profili S, Veropalumbo E, et al. Emicizumab for the treatment of haemophilia A: a narrative review. Blood Transfus. 2019;17(3):223\u20138.","journal-title":"Blood Transfus"},{"issue":"7","key":"3616_CR5","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1111\/jth.12276","volume":"11","author":"PM Rallapalli","year":"2013","unstructured":"Rallapalli PM, Kemball-Cook G, Tuddenham EG, Gomez K, Perkins SJ. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. J Thromb Haemost. 2013;11(7):1329\u201340.","journal-title":"J Thromb Haemost"},{"key":"3616_CR6","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.thromres.2020.11.024","volume":"198","author":"Z Lu","year":"2021","unstructured":"Lu Z, Zhang H, Chen C, Wu W, Wei H. The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression. Thromb Res. 2021;198:23\u20135.","journal-title":"Thromb Res"},{"issue":"2","key":"3616_CR7","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1111\/hae.13681","volume":"25","author":"Y Lu","year":"2019","unstructured":"Lu Y, Wu X, Dai J, Ding Q, Wu W, Wang X. The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees. Haemophilia. 2019;25(2):316\u201323.","journal-title":"Haemophilia"},{"issue":"16","key":"3616_CR8","doi-asserted-by":"publisher","first-page":"1668","DOI":"10.1002\/jcc.20290","volume":"26","author":"DA Case","year":"2005","unstructured":"Case DA, Cheatham TE 3rd, Darden T, Gohlke H, Luo R, Merz KM Jr, et al. The Amber biomolecular simulation programs. J Comput Chem. 2005;26(16):1668\u201388.","journal-title":"J Comput Chem"},{"issue":"8","key":"3616_CR9","doi-asserted-by":"publisher","first-page":"3696","DOI":"10.1021\/acs.jctc.5b00255","volume":"11","author":"JA Maier","year":"2015","unstructured":"Maier JA, Martinez C, Kasavajhala K, Wickstrom L, Hauser KE, Simmerling C. ff14SB: improving the accuracy of protein side chain and backbone parameters from ff99SB. J Chem Theory Comput. 2015;11(8):3696\u2013713.","journal-title":"J Chem Theory Comput"},{"issue":"20","key":"3616_CR10","doi-asserted-by":"publisher","first-page":"9665","DOI":"10.1063\/1.1683075","volume":"120","author":"HW Horn","year":"2004","unstructured":"Horn HW, Swope WC, Pitera JW, Madura JD, Dick TJ, Hura GL, et al. Development of an improved four-site water model for biomolecular simulations: TIP4P-Ew. J Chem Phys. 2004;120(20):9665\u201378.","journal-title":"J Chem Phys"},{"issue":"3","key":"3616_CR11","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0021-9991(77)90098-5","volume":"23","author":"J-P Ryckaert","year":"1977","unstructured":"Ryckaert J-P, Ciccotti G, Berendsen HJ. Numerical integration of the cartesian equations of motion of a system with constraints: molecular dynamics of n-alkanes. J Comput Phys. 1977;23(3):327\u201341.","journal-title":"J Comput Phys"},{"issue":"19","key":"3616_CR12","doi-asserted-by":"publisher","first-page":"8577","DOI":"10.1063\/1.470117","volume":"103","author":"U Essmann","year":"1995","unstructured":"Essmann U, Perera L, Berkowitz ML, Darden T, Lee H, Pedersen LG. A smooth particle mesh Ewald method. J Chem Phys. 1995;103(19):8577\u201393.","journal-title":"J Chem Phys"},{"issue":"8","key":"3616_CR13","doi-asserted-by":"publisher","first-page":"3684","DOI":"10.1063\/1.448118","volume":"81","author":"HJ Berendsen","year":"1984","unstructured":"Berendsen HJ, Postma JV, Van Gunsteren WF, DiNola A, Haak JR. Molecular dynamics with coupling to an external bath. J Chem Phys. 1984;81(8):3684\u201390.","journal-title":"J Chem Phys"},{"issue":"5","key":"3616_CR14","doi-asserted-by":"publisher","first-page":"1542","DOI":"10.1021\/ct200909j","volume":"8","author":"AW Gotz","year":"2012","unstructured":"Gotz AW, Williamson MJ, Xu D, Poole D, Le Grand S, Walker RC. Routine microsecond molecular dynamics simulations with AMBER on GPUs. 1. Generalized born. J Chemical Theory Comput. 2012;8(5):1542\u201355.","journal-title":"J Chemical Theory Comput"},{"issue":"7","key":"3616_CR15","doi-asserted-by":"publisher","first-page":"3084","DOI":"10.1021\/ct400341p","volume":"9","author":"DR Roe","year":"2013","unstructured":"Roe DR, Cheatham TE 3rd. PTRAJ and CPPTRAJ: software for processing and analysis of molecular dynamics trajectory data. J Chem Theory Comput. 2013;9(7):3084\u201395.","journal-title":"J Chem Theory Comput"},{"issue":"16","key":"3616_CR16","doi-asserted-by":"publisher","first-page":"2777","DOI":"10.1182\/blood-2013-06-511733","volume":"122","author":"BC Lechtenberg","year":"2013","unstructured":"Lechtenberg BC, Murray-Rust TA, Johnson DJ, Adams TE, Krishnaswamy S, Camire RM, et al. Crystal structure of the prothrombinase complex from the venom of Pseudonaja textilis. Blood. 2013;122(16):2777\u201383.","journal-title":"Blood"},{"issue":"10","key":"3616_CR17","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","volume":"139","author":"PD Stenson","year":"2020","unstructured":"Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, et al. The human gene mutation database (HGMD(\u00ae)): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139(10):1197\u2013207.","journal-title":"Hum Genet"},{"issue":"10","key":"3616_CR18","doi-asserted-by":"publisher","first-page":"1553","DOI":"10.1182\/blood-2014-07-588194","volume":"125","author":"JM Crudele","year":"2015","unstructured":"Crudele JM, Finn JD, Siner JI, Martin NB, Niemeyer GP, Zhou S, et al. AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice. Blood. 2015;125(10):1553\u201361.","journal-title":"Blood"},{"issue":"10274","key":"3616_CR19","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1016\/S0140-6736(20)32722-7","volume":"397","author":"ME Mancuso","year":"2021","unstructured":"Mancuso ME, Mahlangu JN, Pipe SW. The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing. Lancet. 2021;397(10274):630\u201340.","journal-title":"Lancet"},{"issue":"7","key":"3616_CR20","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1111\/jth.12958","volume":"13","author":"AC Goodeve","year":"2015","unstructured":"Goodeve AC. Hemophilia B: molecular pathogenesis and mutation analysis. J Thromb Haemost. 2015;13(7):1184\u201395.","journal-title":"J Thromb Haemost"},{"issue":"6164","key":"3616_CR21","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1038\/332564a0","volume":"332","author":"P Carter","year":"1988","unstructured":"Carter P, Wells JA. Dissecting the catalytic triad of a serine protease. Nature. 1988;332(6164):564\u20138.","journal-title":"Nature"},{"key":"3616_CR22","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1146\/annurev.bi.46.070177.001555","volume":"46","author":"J Kraut","year":"1977","unstructured":"Kraut J. Serine proteases: structure and mechanism of catalysis. Annu Rev Biochem. 1977;46:331\u201358.","journal-title":"Annu Rev Biochem"},{"issue":"4","key":"3616_CR23","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1111\/jth.14401","volume":"17","author":"K Vadivel","year":"2019","unstructured":"Vadivel K, Schreuder HA, Liesum A, Schmidt AE, Goldsmith G, Bajaj SP. Sodium-site in serine protease domain of human coagulation factor IXa: evidence from the crystal structure and molecular dynamics simulations study. J Thromb Haemost. 2019;17(4):574\u201384.","journal-title":"J Thromb Haemost"}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-023-03616-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12185-023-03616-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-023-03616-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T14:57:29Z","timestamp":1689865049000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12185-023-03616-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,21]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["3616"],"URL":"https:\/\/doi.org\/10.1007\/s12185-023-03616-9","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"type":"print","value":"0925-5710"},{"type":"electronic","value":"1865-3774"}],"subject":[],"published":{"date-parts":[[2023,5,21]]},"assertion":[{"value":"1 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 May 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}