{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:57:45Z","timestamp":1791320265185,"version":"4.3.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Respir Res"],"published-print":{"date-parts":[[2010,12]]},"DOI":"10.1186\/1465-9921-11-73","type":"journal-article","created":{"date-parts":[[2010,6,10]],"date-time":"2010-06-10T14:58:13Z","timestamp":1276181893000},"source":"Crossref","is-referenced-by-count":82,"title":["Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension"],"prefix":"10.1186","volume":"11","author":[{"given":"Barbara","family":"Girerd","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Montani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Eyries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azzedine","family":"Yaici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Sztrymf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Coulet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Sitbon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rald","family":"Simonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Soubrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Humbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,6,10]]},"reference":[{"key":"916_CR1_916","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1183\/09031936.00139009","volume":"34","author":"N Galie","year":"2009","unstructured":"Galie N, Hoeper MM, Humbert M, Torbicki A, Vachiery JL, Barbera JA, Beghetti M, Corris P, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G: Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J 2009, 34:1219\u201363.","journal-title":"Eur Respir J"},{"key":"916_CR2_916","doi-asserted-by":"publisher","first-page":"2493","DOI":"10.1093\/eurheartj\/ehp297","volume":"30","author":"N Galie","year":"2009","unstructured":"Galie N, Hoeper MM, Humbert M, Torbicki A, Vachiery JL, Barbera JA, Beghetti M, Corris P, Gaine S, Gibbs JS, Gomez-Sanchez MA, Jondeau G, Klepetko W, Opitz C, Peacock A, Rubin L, Zellweger M, Simonneau G, Vahanian A, Auricchio A, Bax J, Ceconi C, Dean V, Filippatos G, Funck-Brentano C, Hobbs R, Kearney P, McDonagh T, McGregor K, Popescu BA, Reiner Z, Sechtem U, Sirnes PA, Tendera M, Vardas P, Widimsky P, Sechtem U, Al Attar N, Andreotti F, Aschermann M, Asteggiano R, Benza R, Berger R, Bonnet D, Delcroix M, Howard L, Kitsiou AN, Lang I, Maggioni A, Nielsen-Kudsk JE, Park M, Perrone-Filardi P, Price S, Domenech MT, Vonk-Noordegraaf A, Zamorano JL: Guidelines for the diagnosis and treatment of pulmonary hypertension: The Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J 2009, 30:2493\u2013537.","journal-title":"Eur Heart J"},{"key":"916_CR3_916","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.1056\/NEJMra040291","volume":"351","author":"M Humbert","year":"2004","unstructured":"Humbert M, Sitbon O, Simonneau G: Treatment of pulmonary arterial hypertension. N Engl J Med 2004, 351:1425\u201336.","journal-title":"N Engl J Med"},{"key":"916_CR4_916","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1164\/rccm.200712-1807OC","volume":"177","author":"B Sztrymf","year":"2008","unstructured":"Sztrymf B, Coulet F, Girerd B, Yaici A, Jais X, Sitbon O, Montani D, Souza R, Simonneau G, Soubrier F, Humbert M: Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. Am J Respir Crit Care Med 2008, 177:1377\u201383.","journal-title":"Am J Respir Crit Care Med"},{"key":"916_CR5_916","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1016\/j.healun.2008.02.009","volume":"27","author":"EB Rosenzweig","year":"2008","unstructured":"Rosenzweig EB, Morse JH, Knowles JA, Chada KK, Khan AM, Roberts KE, McElroy JJ, Juskiw NK, Mallory NC, Rich S, Diamond B, Barst RJ: Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. J Heart Lung Transplant 2008, 27:668\u201374.","journal-title":"J Heart Lung Transplant"},{"issue":"8","key":"916_CR6_916","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1164\/rccm.200908-1284OC","volume":"181","author":"B Girerd","year":"2010","unstructured":"Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jais X, Tregouet D, Reis A, Drouin-Garraud V, Fraisse A, Sitbon O, O'Callaghan DS, Simonneau G, Soubrier F, Humbert M: Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying an ACVRL1 (ALK1) Mutation. Am J Respir Crit Care Med 2010,181(8):851\u201361.","journal-title":"Am J Respir Crit Care Med"},{"key":"916_CR7_916","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1056\/NEJM200108023450503","volume":"345","author":"R Trembath","year":"2001","unstructured":"Trembath R, Thomson J, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW: Clinical and molecular genetic features of pulmonary hypertension in hereditary hemorrhagic telangiectasia. N Engl J Med 2001, 345:325\u201334.","journal-title":"N Engl J Med"},{"key":"916_CR8_916","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1161\/01.CIR.0000153798.78540.87","volume":"111","author":"RE Harrison","year":"2005","unstructured":"Harrison RE, Berger R, Haworth SG, Tulloh R, Mache CJ, Morrell NW, Aldred MA, Trembath RC: Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation 2005, 111:435\u201341.","journal-title":"Circulation"},{"key":"916_CR9_916","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/thx.2003.11890","volume":"59","author":"A Chaouat","year":"2004","unstructured":"Chaouat A, Coulet F, Favre C, Simonneau G, Weitzenblum E, Soubrier F, Humbert M: Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. Thorax 2004, 59:446\u20138.","journal-title":"Thorax"},{"key":"916_CR10_916","first-page":"10:87","volume-title":"Respir Res","author":"ED Austin","year":"2009","unstructured":"Austin ED, Phillips JA, Cogan JD, Hamid R, Yu C, Stanton KC, Phillips CA, Wheeler LA, Robbins IM, Newman JH, Loyd JE: Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. Respir Res 2009, 10:87."},{"key":"916_CR11_916","doi-asserted-by":"publisher","first-page":"14S","DOI":"10.1378\/chest.126.1_suppl.14S","volume":"126","author":"M McGoon","year":"2004","unstructured":"McGoon M, Gutterman D, Steen V, Barst R, McCrory DC, Fortin TA, Loyd JE: Screening early detection, and diagnosis of pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines. Chest 2004, 126:14S-34S.","journal-title":"Chest"},{"key":"916_CR12_916","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1164\/rccm.200510-1668OC","volume":"173","author":"M Humbert","year":"2006","unstructured":"Humbert M, Sitbon O, Chaouat A, Bertocchi M, Habib G, Gressin V, Yaici A, Weitzenblum E, Cordier JF, Chabot F, Dromer C, Pison C, Reynaud-Gaubert M, Haloun A, Laurent M, Hachulla E, Simonneau G: Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med 2006, 173:1023\u201330.","journal-title":"Am J Respir Crit Care Med"},{"key":"916_CR13_916","doi-asserted-by":"publisher","first-page":"3105","DOI":"10.1161\/CIRCULATIONAHA.104.488486","volume":"111","author":"O Sitbon","year":"2005","unstructured":"Sitbon O, Humbert M, Jais X, Ioos V, Hamid AM, Provencher S, Garcia G, Parent F, Herve P, Simonneau G: Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension. Circulation 2005, 111:3105\u201311.","journal-title":"Circulation"},{"key":"916_CR14_916","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/S0735-1097(02)02012-0","volume":"40","author":"O Sitbon","year":"2002","unstructured":"Sitbon O, Humbert M, Nunes H, Parent F, Garcia G, Herve P, Rainisio M, Simonneau G: Long-term intravenous epoprostenol infusion in primary pulmonary hypertension: prognostic factors and survival. J Am Coll Cardiol 2002, 40:780\u20138.","journal-title":"J Am Coll Cardiol"},{"key":"916_CR15_916","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1164\/ajrccm.166.1.at1102","volume":"166","author":"ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories","year":"2002","unstructured":"ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories: ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 2002, 166:111\u20137.","journal-title":"Am J Respir Crit Care Med"},{"key":"916_CR16_916","doi-asserted-by":"publisher","first-page":"A4812","DOI":"10.1164\/rccm.200911-1723ED","volume":"181","author":"M Humbert","year":"2010","unstructured":"Humbert M, Sitbon O, Chaouat A, Bertocchi M, Habib G, Gressin V, et al.: Survival in patients with idiopathic, familial, and anorexigen-associated pulmonary arterial hypertension in the modern management era. Am J Respir Crit Care Med 2010, 181:A4812.","journal-title":"Am J Respir Crit Care Med"},{"key":"916_CR17_916","first-page":"1:45","volume-title":"BMC Med Genomics","author":"J West","year":"2008","unstructured":"West J, Cogan J, Geraci M, Robinson L, Newman J, Phillips JA, Lane K, Meyrick B, Loyd J: Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance. BMC Med Genomics 2008, 1:45."},{"key":"916_CR18_916","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.1183\/09031936.00010409","volume":"34","author":"ED Austin","year":"2009","unstructured":"Austin ED, Cogan JD, West JD, Hedges LK, Hamid R, Dawson EP, Wheeler LA, Parl FF, Loyd JE, Phillips JA: Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females. Eur Respir J 2009, 34:1093\u20139.","journal-title":"Eur Respir J"},{"key":"916_CR19_916","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.molmed.2006.05.005","volume":"12","author":"HA Kuzmiak","year":"2006","unstructured":"Kuzmiak HA, Maquat LE: Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006, 12:306\u201316.","journal-title":"Trends Mol Med"},{"key":"916_CR20_916","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1007\/s00439-005-0023-y","volume":"118","author":"LW Harries","year":"2005","unstructured":"Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S: The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet 2005, 118:214\u201324.","journal-title":"Hum Genet"},{"key":"916_CR21_916","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1002\/humu.20922","volume":"30","author":"R Hamid","year":"2009","unstructured":"Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA, Newman JH, Loyd JE: Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. Hum Mutat 2009, 30:649\u201354.","journal-title":"Hum Mutat"},{"key":"916_CR22_916","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.1093\/hmg\/11.13.1517","volume":"11","author":"N Rudarakanchana","year":"2002","unstructured":"Rudarakanchana N, Flanagan JA, Chen H, Upton PD, Machado R, Patel D, Trembath RC, Morrell NW: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. Hum Mol Genet 2002, 11:1517\u201325.","journal-title":"Hum Mol Genet"},{"key":"916_CR23_916","doi-asserted-by":"publisher","first-page":"1683","DOI":"10.1093\/hmg\/ddn059","volume":"17","author":"MT Nasim","year":"2008","unstructured":"Nasim MT, Ghouri A, Patel B, James V, Rudarakanchana N, Morrell NW, Trembath RC: Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension. Hum Mol Genet 2008, 17:1683\u201394.","journal-title":"Hum Mol Genet"}],"container-title":["Respiratory Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1465-9921-11-73","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,8,3]],"date-time":"2016-08-03T03:00:06Z","timestamp":1470193206000},"score":1,"resource":{"primary":{"URL":"http:\/\/respiratory-research.biomedcentral.com\/articles\/10.1186\/1465-9921-11-73"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,10]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["916"],"URL":"https:\/\/doi.org\/10.1186\/1465-9921-11-73","relation":{},"ISSN":["1465-993X"],"issn-type":[{"value":"1465-993X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,10]]},"article-number":"73"}}