{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T12:58:34Z","timestamp":1771333114683,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T00:00:00Z","timestamp":1582070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T00:00:00Z","timestamp":1582070400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100008907","name":"Oklahoma Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008907","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary thrombotic thrombocytopenic purpura (TTP) is an autosomal recessive thrombosis disorder, caused by loss\u2010of\u2010function mutations in\n                    <jats:italic>ADAMTS13<\/jats:italic>\n                    . Mutations in the CUB domains of\n                    <jats:italic>ADAMTS13<\/jats:italic>\n                    are rare, and the exact mechanisms through which these mutations result in the development of TTP have not yet been fully elucidated. In this study, we identified two novel mutations in the CUB domains in a TTP family with an acceptor splice\u2010site mutation (c.3569\u22121, G&gt;A, intron 25) and a point missense mutation (c.3923, G&gt;A, exon 28)\n                    <jats:italic>,<\/jats:italic>\n                    resulting in a glycine to aspartic acid substitution (p.G1308D). In vitro splicing analysis revealed that the intronic mutation resulted in abnormal pre\u2010mRNA splicing, and an in vitro expression assay revealed that the missense mutation significantly impaired ADAMTS13 secretion. Although both the patient and her brother displayed significantly reduced ADAMTS13 activity and increased levels of ultra\u2010large VWF (ULVWF) multimers in plasma, only the female developed acute episodes of TTP. Our findings indicate the importance of the CUB domains for the protein stability and extracellular secretion of ADAMTS13.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.15025","type":"journal-article","created":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T06:14:34Z","timestamp":1582092874000},"page":"4356-4361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel mutations in ADAMTS13 CUB domains cause abnormal pre\u2010mRNA splicing and defective secretion of ADAMTS13"],"prefix":"10.1111","volume":"24","author":[{"given":"Yizhi","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Hematology The Affiliated Yijishan Hospital of Wannan Medical College Wuhu China"},{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Collaborative Innovation Center of Hematology Soochow University Suzhou China"},{"name":"Cardiovascular Biology Research Program Oklahoma Medical Research Foundation Oklahoma City OK USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongping","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Hematology The Affiliated Yijishan Hospital of Wannan Medical College Wuhu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Kondo","sequence":"additional","affiliation":[{"name":"Cardiovascular Biology Research Program Oklahoma Medical Research Foundation Oklahoma City OK USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Jiang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Collaborative Innovation Center of Hematology Soochow University Suzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenni","family":"Ma","sequence":"additional","affiliation":[{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Collaborative Innovation Center of Hematology Soochow University Suzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Zhou","sequence":"additional","affiliation":[{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Department of Hematology Affiliated Hospital of Nantong University Nantong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Su","sequence":"additional","affiliation":[{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Collaborative Innovation Center of Hematology Soochow University Suzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xia","family":"Bai","sequence":"additional","affiliation":[{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Collaborative Innovation Center of Hematology Soochow University Suzhou China"},{"name":"State Key Laboratory of Radiation Medicine and Protection Soochow University Suzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changgeng","family":"Ruan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Thrombosis and Hemostasis of Ministry of Health Jiangsu Institute of Hematology The First Affiliated Hospital of Soochow University Suzhou China"},{"name":"Collaborative 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