{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T03:28:59Z","timestamp":1792985339266,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070243"],"award-info":[{"award-number":["82070243"]}],"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":["82070243"],"award-info":[{"award-number":["82070243"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pulm. circ."],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>Pulmonary arterial hypertension is a kind of heart and lung vascular disease with low incidence and poor prognosis. Genetic variants are the important factors of pulmonary arterial hypertension. The mutations of activin receptor\u2010like kinase\u20101 (<jats:italic>ACVRL1<\/jats:italic>) could cause pulmonary arteriole obstruction and occlusion in pulmonary arterial hypertension patients. The <jats:italic>ACVRL1<\/jats:italic> gene mutation and clinical characteristics of Chinese idiopathic or hereditary pulmonary hypertension (IPAH\/HPAH) patients are still unclear. This study aimed to retrospectively study the mutation characteristics of <jats:italic>ACVRL1<\/jats:italic> gene in Chinese IPAH\/HPAH patients and its effect on clinical prognosis. We analyzed the clinical, functional, hemodynamic and mutation characteristics of 12 IPAH\/HPAH patients with <jats:italic>ACVRL1<\/jats:italic> mutations and compared with 94 IPAH\/HPAH patients (27 patients carried bone morphogenetic protein receptor type 2 (<jats:italic>BMPR2<\/jats:italic>) mutations and 67 without mutations). All <jats:italic>ACVRL1<\/jats:italic> mutations of 12 patients were single nucleotide missense mutations. The ratio of male to female in 12 patients was 1:1. The diagnosis age of <jats:italic>ACVRL1<\/jats:italic> mutation patients was younger than that of <jats:italic>BMPR2<\/jats:italic> mutation patients (13.6\u2009\u00b1\u200911.3 years vs. 16.0\u2009\u00b1\u200912.9 years) but higher than that of patients without mutations (13.6\u2009\u00b1\u200911.3 years vs. 8.8\u2009\u00b1\u20098.5 years, <jats:italic>p<\/jats:italic>\u2009=\u20090.006). IPAH\/HPAH patients with <jats:italic>ACVRL1<\/jats:italic> mutation have rapid disease progresses, high overall mortality rate (approximately 50%) and no response to the acute pulmonary vasodilation test. In conclusion, this is the first study to analyze the <jats:italic>ACVRL1<\/jats:italic> gene mutation and clinical characteristics of Chinese IPAH\/HPAH patients. It is beneficial to screen <jats:italic>ACVRL1<\/jats:italic> gene mutation for IPAH\/HPAH patients to facilitate genetic counseling and early prevention and treatment.<\/jats:p>","DOI":"10.1177\/20458940211044577","type":"journal-article","created":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T13:27:12Z","timestamp":1632403632000},"page":"1-8","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with <i>ACVRL1<\/i> gene mutations"],"prefix":"10.1002","volume":"11","author":[{"given":"Xinyu","family":"Zhang","sequence":"first","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiangqiang","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunmei","family":"Piao","sequence":"additional","affiliation":[{"name":"Beijing Institute of Heart Lung and Blood Vessel Diseases Beijing China"},{"name":"The Key Laboratory of Remodeling\u2010Related Cardiovascular Diseases Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongsheng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3557-7147","authenticated-orcid":false,"given":"Hong","family":"Gu","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19103203"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2581"},{"key":"e_1_2_12_4_1","first-page":"251","article-title":". 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