{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T23:00:07Z","timestamp":1766012407053},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CURR MED SCI"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1007\/s11596-018-1974-2","type":"journal-article","created":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T05:59:24Z","timestamp":1544162364000},"page":"989-996","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family"],"prefix":"10.1007","volume":"38","author":[{"given":"Wei","family":"Su","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-chen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahesh Kumar","family":"Lohano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-juan","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Lv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-han","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Mei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Weng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nian-guo","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,12,7]]},"reference":[{"key":"1974_CR1","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s12920-015-0163-4","volume":"9","author":"Y An","year":"2016","unstructured":"An Y, Duan W, Huang G, et al. Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population. BMC Med Genomics, 2016,9:2","journal-title":"BMC Med Genomics"},{"issue":"4","key":"1974_CR2","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1161\/CIRCRESAHA.112.300853","volume":"112","author":"AC Fahed","year":"2013","unstructured":"Fahed AC, Gelb BD, Seidman JG, et al. Genetics of congenital heart disease: the glass half empty. Circ Res, 2013,112(4):707\u2013720","journal-title":"Circ Res"},{"issue":"2","key":"1974_CR3","doi-asserted-by":"publisher","first-page":"e87437","DOI":"10.1371\/journal.pone.0087437","volume":"9","author":"X Zhu","year":"2014","unstructured":"Zhu X, Deng X, Huang G, et al. A novel mutation of Hyaluronan synthase 2 gene in Chinese children with ventricular septal defect. PLoS One, 2014,9(2):e87437","journal-title":"PLoS One"},{"issue":"3","key":"1974_CR4","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1111\/cge.12835","volume":"91","author":"W Su","year":"2016","unstructured":"Su W, Zhu P, Wang R, et al. Congenital heart diseases and their association with the variant distribution features on susceptibility genes. Clin Genet, 2016,91(3):349\u2013354","journal-title":"Clin Genet"},{"issue":"1","key":"1974_CR5","first-page":"17","volume":"28","author":"XY Liu","year":"2011","unstructured":"Liu XY, Wang J, Zheng JH, et al. Involvement of a novel GATA4 mutation in atrial septal defects. Int J Mol Med, 2011,28(1):17\u201323","journal-title":"Int J Mol Med"},{"key":"1974_CR6","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s12881-015-0152-7","volume":"16","author":"S Mattapally","year":"2015","unstructured":"Mattapally S, Nizamuddin S, Murthy KS, et al. c.620C>T mutation in GATA4 is associated with congenital heart disease in South India. BMC Med Genet, 2015,16:7","journal-title":"BMC Med Genet"},{"issue":"6","key":"1974_CR7","doi-asserted-by":"publisher","first-page":"976","DOI":"10.5114\/aoms.2013.39788","volume":"9","author":"YQ Yang","year":"2013","unstructured":"Yang YQ, Wang J, Liu XY, et al. Mutation spectrum of GATA4 associated with congenital atrial septal defects. Arch Med Sci, 2013,9(6):976\u2013983","journal-title":"Arch Med Sci"},{"issue":"8","key":"1974_CR8","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1016\/j.echo.2015.05.015","volume":"28","author":"FE Silvestry","year":"2015","unstructured":"Silvestry FE, Cohen MS, Armsby LB, et al. Guidelines for the Echocardiographic Assessment of Atrial Septal Defect and Patent Foramen Ovale: From the American Society of Echocardiography and Society for Cardiac Angiography and Interventions. J Am Soc Echocardiogr, 2015,28(8):910\u2013958","journal-title":"J Am Soc Echocardiogr"},{"issue":"6","key":"1974_CR9","doi-asserted-by":"publisher","first-page":"CR344","DOI":"10.12659\/MSM.882877","volume":"18","author":"YQ Yang","year":"2012","unstructured":"Yang YQ, Wang J, Liu XY, et al. Novel GATA4 mutations in patients with congenital ventricular septal defects. Med Sci Monit, 2012, 18(6):CR344\u2013CR350","journal-title":"Med Sci Monit"},{"issue":"6","key":"1974_CR10","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1093\/hmg\/ddv636","volume":"25","author":"KK Zhang","year":"2016","unstructured":"Zhang KK, Xiang M, Zhou L, et al. Gene network and familial analyses uncover a gene network involving Tbx5\/Osr1\/Pcsk6 interaction in the second heart field for atrial septation. Hum Mol Genet, 2016,25(6):1140\u20131151","journal-title":"Hum Mol Genet"},{"issue":"3","key":"1974_CR11","first-page":"646","volume":"36","author":"J Wang","year":"2015","unstructured":"Wang J, Mao JH, Ding KK, et al. A novel NKX2. 6 mutation associated with congenital ventricular septal defect. Pediatr Cardiol, 2015,36(3):646\u2013656","journal-title":"6 mutation associated with congenital ventricular septal defect. Pediatr Cardiol"},{"issue":"4","key":"1974_CR12","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1534\/g3.115.026518","volume":"6","author":"YM Sun","year":"2016","unstructured":"Sun YM, Wang J, Qiu XB, et al. A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis. G3 (Bethesda, Md.), 2016,6(4):987\u2013992","journal-title":"G3 (Bethesda, Md.)"},{"issue":"20","key":"1974_CR13","doi-asserted-by":"publisher","first-page":"8390","DOI":"10.1093\/nar\/17.20.8390","volume":"17","author":"J Grimberg","year":"1989","unstructured":"Grimberg J, Nawoschik S, Belluscio L, et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res, 1989,17(20):8390","journal-title":"Nucleic Acids Res"},{"key":"1974_CR14","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/978-1-4614-8090-7_13","volume":"8","author":"T Hirabayashi","year":"2014","unstructured":"Hirabayashi T, Yagi T. Protocadherins in neurological diseases. Adv Neurobiol, 2014,8:293\u2013314","journal-title":"Adv Neurobiol"},{"issue":"3","key":"1974_CR15","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1515\/bmc.2011.018","volume":"2","author":"E Casa-Esperon de la","year":"2011","unstructured":"de la Casa-Esperon E. From mammals to viruses: the Schlafen genes in developmental, proliferative and immune processes. Biomol Concepts, 2011,2(3):159\u2013169","journal-title":"Biomol Concepts"},{"issue":"5","key":"1974_CR16","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1160\/TH15-11-0884","volume":"115","author":"C Marconi","year":"2016","unstructured":"Marconi C, Di Buduo CA, Barozzi S, et al. SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. Thromb Haemost, 2016,115(5):1076\u20131079","journal-title":"Thromb Haemost"},{"issue":"9","key":"1974_CR17","doi-asserted-by":"publisher","first-page":"3600","DOI":"10.1172\/JCI80347","volume":"125","author":"SJ Fletcher","year":"2015","unstructured":"Fletcher SJ, Johnson B, Lowe GC, et al. SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Investig, 2015,125(9):3600\u20133605","journal-title":"J Clin Investig"}],"container-title":["Current Medical Science"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11596-018-1974-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11596-018-1974-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11596-018-1974-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T01:44:44Z","timestamp":1605577484000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11596-018-1974-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["1974"],"URL":"https:\/\/doi.org\/10.1007\/s11596-018-1974-2","relation":{},"ISSN":["2096-5230","2523-899X"],"issn-type":[{"value":"2096-5230","type":"print"},{"value":"2523-899X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"10 January 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 December 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}