BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis
Tài liệu tham khảo
McLaughlin, 2006, Pulmonary arterial hypertension, Circulation, 114, 1417, 10.1161/CIRCULATIONAHA.104.503540
Humbert, 2004, Cellular and molecular pathobiology of pulmonary arterial hypertension, J Am Coll Cardiol, 43, S13, 10.1016/j.jacc.2004.02.029
Badesch, 2009, Diagnosis and assessment of pulmonary arterial hypertension, J Am Coll Cardiol, 54, S55, 10.1016/j.jacc.2009.04.011
Simonneau, 2013, Updated clinical classification of pulmonary hypertension, J Am Coll Cardiol, 62, S34, 10.1016/j.jacc.2013.10.029
Deng, 2000, Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene, Am J Hum Genet, 67, 737, 10.1086/303059
International, 2000, Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension, Nat Genet, 26, 81, 10.1038/79226
Soubrier, 2013, Genetics and genomics of pulmonary arterial hypertension, J Am Coll Cardiol, 62, S13, 10.1016/j.jacc.2013.10.035
Machado, 2015, Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects, Hum Mutat, 36, 1113, 10.1002/humu.22904
Koehler, 2004, Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension, J Med Genet, 41, e127, 10.1136/jmg.2004.023101
Morisaki, 2004, BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension, Hum Mutat, 23, 632, 10.1002/humu.9251
Larkin, 2012, Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension, Am J Respir Crit Care Med, 186, 892, 10.1164/rccm.201205-0886OC
Galie, 2015, Eur Respir J, 46, 903, 10.1183/13993003.01032-2015
Sztrymf, 2008, Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation, Am J Respir Crit Care Med, 177, 1377, 10.1164/rccm.200712-1807OC
Liu, 2012, BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension, Circ Cardiovasc Genet, 5, 511, 10.1161/CIRCGENETICS.111.962209
Austin, 2009, Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension, Respir Res, 10, 87, 10.1186/1465-9921-10-87
Girerd, 2010, Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension, Respir Res, 11, 73, 10.1186/1465-9921-11-73
Pfarr, 2011, Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations, Respir Res, 12, 99, 10.1186/1465-9921-12-99
Humbert, 2010, Survival in incident and prevalent cohorts of patients with pulmonary arterial hypertension, Eur Respir J, 36, 549, 10.1183/09031936.00057010
Miller, 2012, Survivor bias and risk assessment, Eur Respir J, 40, 530, 10.1183/09031936.00094112
Stewart, 2015, Preferred reporting items for systematic review and meta-analyses of individual participant data: the PRISMA-IPD statement, JAMA, 313, 1657, 10.1001/jama.2015.3656
Galie, 2009, Eur Heart J, 30, 2493, 10.1093/eurheartj/ehp297
Humbert, 2002, BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives, Eur Respir J, 20, 518, 10.1183/09031936.02.01762002
Simonneau, 2015, Incident and prevalent cohorts with pulmonary arterial hypertension: insight from SERAPHIN, Eur Respir J, 46, 1711, 10.1183/13993003.00364-2015
Barrios, 2013, Preliminary results of the determination of BMPR2 mutations and clinical implications in a Spanish population of patients with pulmonary arterial hypertension, Eur Heart J, 34, S306, 10.1093/eurheartj/eht307.P306
Chida, 2012, Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers, Am J Cardiol, 110, 586, 10.1016/j.amjcard.2012.04.035
Elliott, 2006, Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension, Circulation, 113, 2509, 10.1161/CIRCULATIONAHA.105.601930
Kabata, 2013, Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension, Respirology, 18, 1076
Rosenzweig, 2008, Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension, J Heart Lung Transplant, 27, 668, 10.1016/j.healun.2008.02.009
Rich, 1992, The effect of high doses of calcium-channel blockers on survival in primary pulmonary hypertension, N Engl J Med, 327, 76, 10.1056/NEJM199207093270203
Sitbon, 2005, Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension, Circulation, 111, 3105, 10.1161/CIRCULATIONAHA.104.488486
Hemnes, 2014, Evidence for right ventricular lipotoxicity in heritable pulmonary arterial hypertension, Am J Respir Crit Care Med, 189, 325, 10.1164/rccm.201306-1086OC
Ling, 2012, Changing demographics, epidemiology, and survival of incident pulmonary arterial hypertension: results from the pulmonary hypertension registry of the United Kingdom and Ireland, Am J Respir Crit Care Med, 186, 790, 10.1164/rccm.201203-0383OC
Spiekerkoetter, 2013, FK506 activates BMPR2, rescues endothelial dysfunction, and reverses pulmonary hypertension, J Clin Invest, 123, 3600, 10.1172/JCI65592
Long, 2015, Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension, Nat Med, 21, 777, 10.1038/nm.3877