{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T21:10:06Z","timestamp":1759093806367,"version":"3.44.0"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100014219","name":"National Science Fund for Distinguished Young Scholars","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014219","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005089","name":"Beijing Municipal Natural Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005089","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2020,11]]},"DOI":"10.1016\/j.ijcard.2020.06.068","type":"journal-article","created":{"date-parts":[[2020,7,4]],"date-time":"2020-07-04T10:59:36Z","timestamp":1593860376000},"page":"138-143","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population"],"prefix":"10.1016","volume":"318","author":[{"given":"Zi-Chao","family":"Lyu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian-Hui","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su-Qi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-Chen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tian-Yu","family":"Lian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shao-Fei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jue","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi-Cheng","family":"Jing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ijcard.2020.06.068_bb0005","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacc.2004.02.028","article-title":"Genetic basis of pulmonary arterial hypertension: current understanding and future directions","volume":"43","author":"Newman","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0010","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/79226","article-title":"Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension","volume":"26","author":"International PPHC","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0015","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1086\/303059","article-title":"Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene","volume":"67","author":"Deng","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0020","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1136\/jmg.37.10.741","article-title":"Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family","volume":"37","author":"Thomson","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0025","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/eurheartj\/ehv317","volume":"37","author":"Galie","year":"2016","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0030","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1002\/humu.22904","article-title":"Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects","volume":"36","author":"Machado","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0035","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.ijcard.2020.06.068_bb0040","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1164\/rccm.200712-1807OC","article-title":"Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation","volume":"177","author":"Sztrymf","year":"2008","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0045","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01609-2018","article-title":"Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension","volume":"53","author":"Wang","year":"2019","journal-title":"Eur. Respir. J."},{"year":"2014","series-title":"Molecular Biology of the Cell 6E","author":"Wilson","key":"10.1016\/j.ijcard.2020.06.068_bb0050"},{"key":"10.1016\/j.ijcard.2020.06.068_bb0055","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1183\/13993003.00717-2015","article-title":"Genetic counselling in a national referral centre for pulmonary hypertension","volume":"47","author":"Girerd","year":"2016","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0060","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1038\/s41467-018-03672-4","article-title":"Identification of rare sequence variation underlying heritable pulmonary arterial hypertension","volume":"9","author":"Graf","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0065","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/j.bbrc.2004.01.158","article-title":"Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension","volume":"315","author":"Zhicheng","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0070","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1183\/09031936.00072911","article-title":"Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients","volume":"39","author":"Liu","year":"2012","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0075","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1378\/chest.14-0880","article-title":"Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2","volume":"147","author":"Girerd","year":"2015","journal-title":"Chest."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0080","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1093\/hmg\/11.13.1517","article-title":"Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension","volume":"11","author":"Rudarakanchana","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0085","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.gene.2015.02.038","article-title":"Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension","volume":"561","author":"John","year":"2015","journal-title":"Gene."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0090","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1086\/316947","article-title":"BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension","volume":"68","author":"Machado","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0095","series-title":"American Heart Association\u2019s Scientific Sessions 2018: Circulation Research","first-page":"e71","article-title":"A novel rat model for heritable pulmonary arterial hypertension","author":"Li","year":"2018"},{"key":"10.1016\/j.ijcard.2020.06.068_bb0100","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1513\/pats.201002-024AW","article-title":"Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension","volume":"7","author":"Li","year":"2010","journal-title":"Proc. Am. Thorac. Soc."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0105","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1002\/humu.21605","article-title":"Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension","volume":"32","author":"Nasim","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0110","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s11010-012-1496-3","article-title":"Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations","volume":"373","author":"Hume","year":"2013","journal-title":"Mol. Cell. Biochem."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0115","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1186\/1465-9921-10-87","article-title":"Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension","volume":"10","author":"Austin","year":"2009","journal-title":"Respir. Res."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0120","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0076-6879(08)02623-2","article-title":"Tethering assays to investigate nonsense-mediated mRNA decay activating proteins","volume":"448","author":"Gehring","year":"2008","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0125","doi-asserted-by":"crossref","DOI":"10.1088\/1478-3975\/8\/3\/035001","article-title":"On the role of electrostatics in protein-protein interactions","volume":"8","author":"Zhang","year":"2011","journal-title":"Phys. Biol."},{"key":"10.1016\/j.ijcard.2020.06.068_bb0130","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1146\/annurev.biophys.33.110502.133337","article-title":"Membrane-protein interactions in cell signaling and membrane trafficking","volume":"34","author":"Cho","year":"2005","journal-title":"Annu. Rev. Biophys. Biomol. Struct."}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016752732033446X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016752732033446X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T20:47:58Z","timestamp":1759092478000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S016752732033446X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":26,"alternative-id":["S016752732033446X"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2020.06.068","relation":{},"ISSN":["0167-5273"],"issn-type":[{"type":"print","value":"0167-5273"}],"subject":[],"published":{"date-parts":[[2020,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2020.06.068","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}