{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T20:53:23Z","timestamp":1778705603754,"version":"3.51.4"},"edition-number":"1","reference-count":69,"publisher":"Wiley","isbn-type":[{"value":"9780470650714","type":"electronic"}],"license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditary (HPAH), idiopathic (IPAH), or associated with either drug\u2010toxin exposures or other medical conditions. Familial cases have long been recognised and are usually due to mutations in the bone morphogenetic protein receptor type 2 gene (<jats:italic>BMPR2<\/jats:italic>), or, much less commonly, two other members of the transforming growth factor\u2010\u03b2 superfamily, activin\u2010like kinase\u2010type 1 (<jats:italic>ALK1<\/jats:italic>), and endoglin (<jats:italic>ENG<\/jats:italic>), which are associated with hereditary hemorrhagic telangiectasia. In addition, approximately 20% of patients with IPAH carry mutations in<jats:italic>BMPR2<\/jats:italic>. Clinical testing for<jats:italic>BMPR2<\/jats:italic>mutations is available and may be offered to HPAH and IPAH patients but should be preceded by genetic counselling, since lifetime penetrance is only 10% to 20%, and there are currently no known effective preventative measures. Identification of a familial mutation can be valuable in reproductive planning and identifying family members who are not mutation carriers and thus will not require lifelong surveillance. With advances in genomic technology and with international collaborative efforts, genome\u2010wide association studies will be conducted to identify additional genes for HPAH, genetic modifiers for<jats:italic>BMPR2<\/jats:italic>penetrance, and genetic susceptibility to IPAH. In addition, collaborative studies of<jats:italic>BMPR2<\/jats:italic>mutation carriers should enable identification of environmental modifiers, biomarkers for disease development and progression, and surrogate markers for efficacy end points in clinical drug development, thereby providing an invaluable resource for trials of PAH prevention. \u00a9 2011 American Physiological Society.<jats:italic>Compr Physiol<\/jats:italic>1:1721\u20101728, 2011.<\/jats:p>","DOI":"10.1002\/cphy.c100063","type":"other","created":{"date-parts":[[2011,9,19]],"date-time":"2011-09-19T16:18:09Z","timestamp":1316449089000},"page":"1721-1728","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and Molecular Genetic Features of Hereditary Pulmonary Arterial Hypertension"],"prefix":"10.1002","author":[{"given":"Laura","family":"Brenner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy 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