{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:08:53Z","timestamp":1791407333819,"version":"4.3.3"},"reference-count":37,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2000,9,1]],"date-time":"2000-09-01T00:00:00Z","timestamp":967766400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2000,9,1]],"date-time":"2000-09-01T00:00:00Z","timestamp":967766400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2009,1,8]],"date-time":"2009-01-08T00:00:00Z","timestamp":1231372800000},"content-version":"vor","delay-in-days":3051,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,9]]},"DOI":"10.1086\/303059","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:47:54Z","timestamp":1027694874000},"page":"737-744","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1009,"title":["Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor\u2013II Gene"],"prefix":"10.1016","volume":"67","author":[{"given":"Zemin","family":"Deng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane H.","family":"Morse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Slager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nieves","family":"Cuervo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith J.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Venetos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Kalachikov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eftihia","family":"Cayanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart G.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn J.","family":"Barst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Hodge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/303059_bib1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1056\/NEJM199608293350901","article-title":"Appetite-suppressant drugs and the risk of primary pulmonary hypertension: International Primary Pulmonary Hypertension Study Group","volume":"335","author":"Abenhaim","year":"1996","journal-title":"N Engl J Med"},{"key":"10.1086\/303059_bib2","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","article-title":"Basic local alignment search tool","volume":"215","author":"Altschul","year":"1990","journal-title":"J Mol Biol"},{"key":"10.1086\/303059_bib3","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1056\/NEJM199602013340504","article-title":"A comparison of continuous intravenous epoprostenol (prostacyclin) with conventional therapy for primary pulmonary hypertension: The Primary Pulmonary Hypertension Study Group","volume":"334","author":"Barst","year":"1996","journal-title":"N Engl J Med"},{"key":"10.1086\/303059_bib4","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1006\/dbio.2000.9670","article-title":"BMP type II receptor is required for gastrulation and early development of mouse embryos","volume":"221","author":"Beppu","year":"2000","journal-title":"Dev Biol"},{"key":"10.1086\/303059_bib5","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1006\/bbrc.1997.6816","article-title":"cDNA cloning and genomic organization of the mouse BMP type II receptor","volume":"235","author":"Beppu","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/303059_bib6","doi-asserted-by":"crossref","first-page":"8274","DOI":"10.1074\/jbc.270.14.8274","article-title":"Inactive type II and type I receptors for TGF beta are dominant inhibitors of TGF beta-dependent transcription","volume":"270","author":"Brand","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1086\/303059_bib7","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1086\/302577","article-title":"A generalization of the transmission\/disequilibrium test for uncertain-haplotype transmission","volume":"65","author":"Clayton","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/303059_bib8","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/303059_bib9","doi-asserted-by":"crossref","first-page":"343","DOI":"10.7326\/0003-4819-115-5-343","article-title":"Survival in patients with primary pulmonary hypertension: results from a national prospective registry","volume":"115","author":"D'Alonzo","year":"1991","journal-title":"Ann Intern Med"},{"key":"10.1086\/303059_bib10","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1164\/ajrccm.161.3.9906051","article-title":"Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33","volume":"161","author":"Deng","year":"2000","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1086\/303059_bib11","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1136\/bmj.283.6296.881","article-title":"Pulmonary hypertension and fenfluramine","volume":"283","author":"Douglas","year":"1981","journal-title":"Br Med J (Clin Res Ed)"},{"key":"10.1086\/303059_bib12","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1091\/mbc.11.3.1023","article-title":"Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine\/threonine kinase receptors","volume":"11","author":"Gilboa","year":"2000","journal-title":"Mol Biol Cell"},{"key":"10.1086\/303059_bib13","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1126\/science.3291115","article-title":"The protein kinase family: conserved features and deduced phylogeny of the catalytic domains","volume":"241","author":"Hanks","year":"1988","journal-title":"Science"},{"key":"10.1086\/303059_bib14","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng0696-189","article-title":"Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2","volume":"13","author":"Johnson","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/303059_bib15","doi-asserted-by":"crossref","first-page":"5625","DOI":"10.1074\/jbc.270.10.5625","article-title":"Cloning of a novel type II serine\/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor","volume":"270","author":"Kawabata","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1086\/303059_bib16","doi-asserted-by":"crossref","first-page":"17647","DOI":"10.1074\/jbc.M908622199","article-title":"BMP2-induced apoptosis is mediated by activation of the TAK1-p38 kinase pathway that is negatively regulated by Smad6","volume":"275","author":"Kimura","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1086\/303059_bib17","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/303059_bib18","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1172\/JCI1910","article-title":"Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension","volume":"101","author":"Lee","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1086\/303059_bib19","doi-asserted-by":"crossref","first-page":"3479","DOI":"10.1128\/MCB.15.7.3479","article-title":"Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs","volume":"15","author":"Liu","year":"1995","journal-title":"Mol Cell Biol"},{"key":"10.1086\/303059_bib20","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1164\/ajrccm.152.1.7599869","article-title":"Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension","volume":"152","author":"Loyd","year":"1995","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1086\/303059_bib21","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1093\/hmg\/9.5.745","article-title":"Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms","volume":"9","author":"Lux","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/303059_bib22","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1146\/annurev.biochem.67.1.753","article-title":"TGF-beta signal transduction","volume":"67","author":"Massague","year":"1998","journal-title":"Annu Rev Biochem"},{"key":"10.1086\/303059_bib23","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng1294-345","article-title":"Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1","volume":"8","author":"McAllister","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/303059_bib24","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1055\/s-2007-1006366","article-title":"Immunological disturbances in primary pulmonary hypertension","volume":"15","author":"Morse","year":"1994","journal-title":"Semin Resp Crit Care Med"},{"key":"10.1086\/303059_bib26","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1161\/01.CIR.95.12.2603","article-title":"Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32","volume":"95","author":"Morse","year":"1997","journal-title":"Circulation"},{"key":"10.1086\/303059_bib25","first-page":"1","article-title":"Genetic mapping of primary pulmonary hypertension: evidence for linkage to chromosome 2 in a large family","volume":"94","author":"Morse","year":"1996","journal-title":"Circulation"},{"key":"10.1086\/303059_bib27","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/ng0397-277","article-title":"Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32","volume":"15","author":"Nichols","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/303059_bib28","doi-asserted-by":"crossref","first-page":"22522","DOI":"10.1074\/jbc.270.38.22522","article-title":"Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors","volume":"270","author":"Nohno","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1086\/303059_bib29","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1006\/geno.1998.5411","article-title":"Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection","volume":"52","author":"O'Donovan","year":"1998","journal-title":"Genomics"},{"key":"10.1086\/303059_bib30","doi-asserted-by":"crossref","first-page":"2252","DOI":"10.1161\/01.CIR.92.8.2252","article-title":"Single lung transplantation for pulmonary hypertension: single institution experience in 34 patients","volume":"92","author":"Pasque","year":"1995","journal-title":"Circulation"},{"key":"10.1086\/303059_bib31","doi-asserted-by":"crossref","first-page":"216","DOI":"10.7326\/0003-4819-107-2-216","article-title":"Primary pulmonary hypertension: a national prospective study","volume":"107","author":"Rich","year":"1987","journal-title":"Ann Intern Med"},{"key":"10.1086\/303059_bib32","doi-asserted-by":"crossref","first-page":"7632","DOI":"10.1073\/pnas.92.17.7632","article-title":"Cloning and characterization of a human type II receptor for bone morphogenetic proteins","volume":"92","author":"Rosenzweig","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/303059_bib33","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1097\/00001813-199804000-00006","article-title":"Antiproliferative effects of recombinant human bone morphogenetic protein-2 on human tumor colony-forming units","volume":"9","author":"Soda","year":"1998","journal-title":"Anticancer Drugs"},{"key":"10.1086\/303059_bib34","doi-asserted-by":"crossref","first-page":"9314","DOI":"10.1073\/pnas.94.17.9314","article-title":"Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium","volume":"94","author":"Topper","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/303059_bib35","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.7.10.996","article-title":"Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography","volume":"7","author":"Underhill","year":"1997","journal-title":"Genome Res"},{"key":"10.1086\/303059_bib36","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0925-4773(99)00325-1","article-title":"The molecular basis of lung morphogenesis","volume":"92","author":"Warburton","year":"2000","journal-title":"Mech Dev"},{"key":"10.1086\/303059_bib37","first-page":"7239","article-title":"Signaling activity of transforming growth factor beta type II receptors lacking specific domains in the cytoplasmic region","volume":"13","author":"Wieser","year":"1993","journal-title":"Mol Cell Biol"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707632595?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707632595?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:06:56Z","timestamp":1757574416000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707632595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2000,9]]}},"alternative-id":["S0002929707632595"],"URL":"https:\/\/doi.org\/10.1086\/303059","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor\u2013II Gene","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1086\/303059","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2000 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}