{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T16:35:29Z","timestamp":1743266129820,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Key R&D Program of China","award":["2016YFC 0903000","81400846","81501486"],"award-info":[{"award-number":["2016YFC 0903000","81400846","81501486"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2016YFC 0903000","81400846","81501486"],"award-info":[{"award-number":["2016YFC 0903000","81400846","81501486"]}],"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":["2016YFC 0903000","81400846","81501486"],"award-info":[{"award-number":["2016YFC 0903000","81400846","81501486"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Genomics"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 <jats:italic>(FBN1<\/jats:italic>) is the causative gene in the pathogenesis of MFS. Patients with different <jats:italic>FBN1<\/jats:italic> mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events.<\/jats:p>","DOI":"10.1155\/2018\/1246516","type":"journal-article","created":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T19:30:31Z","timestamp":1523993431000},"page":"1-8","source":"Crossref","is-referenced-by-count":5,"title":["Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome"],"prefix":"10.1155","volume":"2018","author":[{"given":"Yueli","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongjuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0447-736X","authenticated-orcid":true,"given":"Jie","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2016-310631"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22977"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.9"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001040"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.91"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2017-311513"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2014.950223"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu281"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31353"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2015.11.003"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580216"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-016-4067-y"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehv739"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1016\/j.forsciint.2016.02.013"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-012-0931-y"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.033"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.116.003705"}],"container-title":["International Journal of Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ijg\/2018\/1246516.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ijg\/2018\/1246516.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ijg\/2018\/1246516.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T19:30:37Z","timestamp":1523993437000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/ijg\/2018\/1246516\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":22,"alternative-id":["1246516","1246516"],"URL":"https:\/\/doi.org\/10.1155\/2018\/1246516","relation":{},"ISSN":["2314-436X","2314-4378"],"issn-type":[{"type":"print","value":"2314-436X"},{"type":"electronic","value":"2314-4378"}],"subject":[],"published":{"date-parts":[[2018]]}}}