메뉴 건너뛰기




Volumn 115, Issue 1, 2014, Pages 189-200

The genetics of pulmonary arterial hypertension

Author keywords

bone morphogenetic protein receptor, type II; genetics; hypertension; pulmonary

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; SEX HORMONE; TRANSFORMING GROWTH FACTOR BETA;

EID: 84902980316     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.115.303404     Document Type: Article
Times cited : (146)

References (135)
  • 3
    • 77954758530 scopus 로고    scopus 로고
    • Survival in patients with idiopathic, familial, and anorexigen-associated pulmonary arterial hypertension in the modern management era
    • Humbert M, Sitbon O, Chaouat A, et al. Survival in patients with idiopathic, familial, and anorexigen-associated pulmonary arterial hypertension in the modern management era. Circulation. 2010;122:156-163.
    • (2010) Circulation. , vol.122 , pp. 156-163
    • Humbert, M.1    Sitbon, O.2    Chaouat, A.3
  • 4
    • 69949166203 scopus 로고    scopus 로고
    • Beneficial role of the GPR30 agonist G-1 in an animal model of multiple sclerosis
    • Blasko E, Haskell CA, Leung S, et al. Beneficial role of the GPR30 agonist G-1 in an animal model of multiple sclerosis. J Neuroimmunol. 2009;214:67-77.
    • (2009) J Neuroimmunol. , vol.214 , pp. 67-77
    • Blasko, E.1    Haskell, C.A.2    Leung, S.3
  • 5
    • 77955953602 scopus 로고    scopus 로고
    • Survival in incident and prevalent cohorts of patients with pulmonary arterial hypertension
    • Humbert M, Sitbon O, Yaici A, et al. Survival in incident and prevalent cohorts of patients with pulmonary arterial hypertension. Eur Respir J. 2010;36:549-555.
    • (2010) Eur Respir J. , vol.36 , pp. 549-555
    • Humbert, M.1    Sitbon, O.2    Yaici, A.3
  • 6
    • 0037126044 scopus 로고    scopus 로고
    • Survival in primary pulmonary hypertension: The impact of epoprostenol therapy
    • McLaughlin VV, Shillington A, Rich S. Survival in primary pulmonary hypertension: the impact of epoprostenol therapy. Circulation. 2002;106:1477-1482.
    • (2002) Circulation. , vol.106 , pp. 1477-1482
    • McLaughlin, V.V.1    Shillington, A.2    Rich, S.3
  • 8
    • 78349286375 scopus 로고    scopus 로고
    • Long-term effects of epoprostenol on the pulmonary vasculature in idiopathic pulmonary arterial hypertension
    • Rich S, Pogoriler J, Husain AN, Toth PT, Gomberg-Maitland M, Archer SL. Long-term effects of epoprostenol on the pulmonary vasculature in idiopathic pulmonary arterial hypertension. Chest. 2010;138:1234-1239.
    • (2010) Chest. , vol.138 , pp. 1234-1239
    • Rich, S.1    Pogoriler, J.2    Husain, A.N.3    Toth, P.T.4    Gomberg-Maitland, M.5    Archer, S.L.6
  • 10
    • 70449671451 scopus 로고
    • Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance
    • Dresdale DT, Michtom RJ, Schultz M. Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance. Bull N Y Acad Med. 1954;30:195-207.
    • (1954) Bull N y Acad Med. , vol.30 , pp. 195-207
    • Dresdale, D.T.1    Michtom, R.J.2    Schultz, M.3
  • 14
    • 64849109410 scopus 로고    scopus 로고
    • Accf/aha 2009 expert consensus document on pulmonary hypertension a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association developed in collaboration with the American College of Chest Physicians; American Thoracic Society, Inc.; And the Pulmonary Hypertension Association
    • McLaughlin VV, Archer SL, Badesch DB, Barst RJ, Farber HW, Lindner JR, Mathier MA, McGoon MD, Park MH, Rosenson RS, Rubin LJ, Tapson VF, Varga J. Accf/aha 2009 expert consensus document on pulmonary hypertension a report of the American College Of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association developed in collaboration with the American College of Chest Physicians; American Thoracic Society, Inc.; and the Pulmonary Hypertension Association. J Am Coll Cardiol. 2009;53:1573-1619.
    • (2009) J Am Coll Cardiol. , vol.53 , pp. 1573-1619
    • McLaughlin, V.V.1    Archer, S.L.2    Badesch, D.B.3    Barst, R.J.4    Farber, H.W.5    Lindner, J.R.6    Mathier, M.A.7    McGoon, M.D.8    Park, M.H.9    Rosenson, R.S.10    Rubin, L.J.11    Tapson, V.F.12    Varga, J.13
  • 19
    • 33646269035 scopus 로고    scopus 로고
    • Pulmonary arterial hypertension in France: Results from a national registry
    • Humbert M, Sitbon O, Chaouat A, et al. Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med. 2006;173:1023-1030.
    • (2006) Am J Respir Crit Care Med. , vol.173 , pp. 1023-1030
    • Humbert, M.1    Sitbon, O.2    Chaouat, A.3
  • 24
    • 0021288730 scopus 로고
    • Familial primary pulmonary hypertension: Clinical patterns
    • Loyd JE, Primm RK, Newman JH. Familial primary pulmonary hypertension: clinical patterns. Am Rev Respir Dis. 1984;129:194-197.
    • (1984) Am Rev Respir Dis. , vol.129 , pp. 194-197
    • Loyd, J.E.1    Primm, R.K.2    Newman, J.H.3
  • 25
    • 0030972166 scopus 로고    scopus 로고
    • The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion
    • Loyd JE, Slovis B, Phillips JA III, Butler MG, Foroud TM, Conneally PM, Newman JH. The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. Chest. 1997;111:82S-83S.
    • (1997) Chest. , vol.111
    • Loyd, J.E.1    Slovis, B.2    Phillips III, J.A.3    Butler, M.G.4    Foroud, T.M.5    Conneally, P.M.6    Newman, J.H.7
  • 26
    • 0032578279 scopus 로고    scopus 로고
    • Primary pulmonary hypertension
    • Gaine SP, Rubin LJ. Primary pulmonary hypertension. Lancet. 1998;352:719-725.
    • (1998) Lancet. , vol.352 , pp. 719-725
    • Gaine, S.P.1    Rubin, L.J.2
  • 30
    • 33244488351 scopus 로고    scopus 로고
    • Genetics of pulmonary arterial hypertension: Recent data and practical applications
    • Sztrymf B, Yaici A, Jais X, Simonneau G, Sitbon O, Humbert M. [Genetics of pulmonary arterial hypertension: recent data and practical applications]. Rev Mal Respir. 2005;22:796-805.
    • (2005) Rev Mal Respir. , vol.22 , pp. 796-805
    • Sztrymf, B.1    Yaici, A.2    Jais, X.3    Simonneau, G.4    Sitbon, O.5    Humbert, M.6
  • 38
    • 2942581061 scopus 로고    scopus 로고
    • Genetic basis of pulmonary arterial hypertension: Current understanding and future directions
    • Newman JH, Trembath RC, Morse JA, et al. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. J Am Coll Cardiol. 2004;43:33S-39S.
    • (2004) J Am Coll Cardiol. , vol.43
    • Newman, J.H.1    Trembath, R.C.2    Morse, J.A.3
  • 39
    • 66249125359 scopus 로고    scopus 로고
    • A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension
    • Shintani M, Yagi H, Nakayama T, Saji T, Matsuoka R. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. J Med Genet. 2009;46:331-337.
    • (2009) J Med Genet. , vol.46 , pp. 331-337
    • Shintani, M.1    Yagi, H.2    Nakayama, T.3    Saji, T.4    Matsuoka, R.5
  • 40
    • 0030050973 scopus 로고    scopus 로고
    • Mutations in the activin receptor- like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
    • Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor- like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189-195.
    • (1996) Nat Genet. , vol.13 , pp. 189-195
    • Johnson, D.W.1    Berg, J.N.2    Baldwin, M.A.3
  • 42
    • 9144219585 scopus 로고    scopus 로고
    • Molecular and functional analysis identifies alk-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
    • Harrison RE, Flanagan JA, Sankelo M, et al. Molecular and functional analysis identifies alk-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet. 2003;40:865-871.
    • (2003) J Med Genet. , vol.40 , pp. 865-871
    • Harrison, R.E.1    Flanagan, J.A.2    Sankelo, M.3
  • 43
    • 0035797556 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    • Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2001;345:325-334.
    • (2001) N Engl J Med. , vol.345 , pp. 325-334
    • Trembath, R.C.1    Thomson, J.R.2    Machado, R.D.3
  • 44
    • 0038682002 scopus 로고    scopus 로고
    • Mechanisms of TGF-beta signaling from cell membrane to the nucleus
    • Shi Y, Massagué J. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Cell. 2003;113:685-700.
    • (2003) Cell. , vol.113 , pp. 685-700
    • Shi, Y.1    Massagué, J.2
  • 45
    • 33646089201 scopus 로고    scopus 로고
    • Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway
    • Fernández-L A, Sanz-Rodriguez F, Blanco FJ, Bernabéu C, Botella LM. Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway. Clin Med Res. 2006;4:66-78.
    • (2006) Clin Med Res. , vol.4 , pp. 66-78
    • Fernández-L, A.1    Sanz-Rodriguez, F.2    Blanco, F.J.3    Bernabéu, C.4    Botella, L.M.5
  • 46
    • 32544458797 scopus 로고    scopus 로고
    • Mutations of the tgf-beta type ii receptor bmpr2 in pulmonary arterial hypertension
    • Machado RD, Aldred MA, James V, et al. Mutations of the tgf-beta type ii receptor bmpr2 in pulmonary arterial hypertension. Hum Mutat. 2006;27:121-132.
    • (2006) Hum Mutat. , vol.27 , pp. 121-132
    • Machado, R.D.1    Aldred, M.A.2    James, V.3
  • 47
    • 0033623296 scopus 로고    scopus 로고
    • Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding bmpr-ii, a receptor member of the tgf-beta family
    • Thomson JR, Machado RD, Pauciulo MW, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding bmpr-ii, a receptor member of the tgf-beta family. J Med Genet. 2000;37:741-745.
    • (2000) J Med Genet. , vol.37 , pp. 741-745
    • Thomson, J.R.1    Machado, R.D.2    Pauciulo, M.W.3
  • 49
    • 39849084288 scopus 로고    scopus 로고
    • Implications of mutations of activin receptor-like kinase 1 gene (alk1) in addition to bone morphogenetic protein receptor ii gene (bmpr2) in children with pulmonary arterial hypertension
    • Fujiwara M, Yagi H, Matsuoka R, Akimoto K, Furutani M, Imamura S, Uehara R, Nakayama T, Takao A, Nakazawa M, Saji T. Implications of mutations of activin receptor-like kinase 1 gene (alk1) in addition to bone morphogenetic protein receptor ii gene (bmpr2) in children with pulmonary arterial hypertension. Circulation. 2008;72:127-133.
    • (2008) Circulation. , vol.72 , pp. 127-133
    • Fujiwara, M.1    Yagi, H.2    Matsuoka, R.3    Akimoto, K.4    Furutani, M.5    Imamura, S.6    Uehara, R.7    Nakayama, T.8    Takao, A.9    Nakazawa, M.10    Saji, T.11
  • 51
    • 49149084337 scopus 로고    scopus 로고
    • Pulmonary veno-occlusive disease: Clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology
    • Montani D, Achouh L, Dorfmuller P, et al. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore). 2008;87:220-233.
    • (2008) Medicine (Baltimore). , vol.87 , pp. 220-233
    • Montani, D.1    Achouh, L.2    Dorfmuller, P.3
  • 56
    • 84875369894 scopus 로고    scopus 로고
    • 5?UTR repeat polymorphisms of the BMPR2 gene in children with pulmonary hypertension associated with congenital heart disease
    • Limsuwan A, Choubtum L, Wattanasirichaigoon D. 5?UTR repeat polymorphisms of the BMPR2 gene in children with pulmonary hypertension associated with congenital heart disease. Heart Lung Circ. 2013;22:204-210.
    • (2013) Heart Lung Circ. , vol.22 , pp. 204-210
    • Limsuwan, A.1    Choubtum, L.2    Wattanasirichaigoon, D.3
  • 58
    • 0037235556 scopus 로고    scopus 로고
    • BMP signaling is required for septation of the outflow tract of the mammalian heart
    • Délot EC, Bahamonde ME, Zhao M, Lyons KM. BMP signaling is required for septation of the outflow tract of the mammalian heart. Development. 2003;130:209-220.
    • (2003) Development. , vol.130 , pp. 209-220
    • Délot, E.C.1    Bahamonde, M.E.2    Zhao, M.3    Lyons, K.M.4
  • 59
    • 0036844311 scopus 로고    scopus 로고
    • Pulmonary hypertension in scleroderma spectrum of disease: Lack of bone morphogenetic protein receptor 2 mutations
    • Morse J, Barst R, Horn E, Cuervo N, Deng Z, Knowles J. Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations. J Rheumatol. 2002;29:2379-2381.
    • (2002) J Rheumatol. , vol.29 , pp. 2379-2381
    • Morse, J.1    Barst, R.2    Horn, E.3    Cuervo, N.4    Deng, Z.5    Knowles, J.6
  • 62
    • 33644865928 scopus 로고    scopus 로고
    • Bone morphogenetic protein receptor-2 signaling promotes pulmonary arterial endothelial cell survival: Implications for loss-of-function mutations in the pathogenesis of pulmonary hypertension
    • Teichert-Kuliszewska K, Kutryk MJ, Kuliszewski MA, Karoubi G, Courtman DW, Zucco L, Granton J, Stewart DJ. Bone morphogenetic protein receptor-2 signaling promotes pulmonary arterial endothelial cell survival: implications for loss-of-function mutations in the pathogenesis of pulmonary hypertension. Circ Res. 2006;98:209-217.
    • (2006) Circ Res. , vol.98 , pp. 209-217
    • Teichert-Kuliszewska, K.1    Kutryk, M.J.2    Kuliszewski, M.A.3    Karoubi, G.4    Courtman, D.W.5    Zucco, L.6    Granton, J.7    Stewart, D.J.8
  • 63
    • 85019401678 scopus 로고    scopus 로고
    • Expression of mutant BMPR-II in pulmonary endothelial cells promotes apoptosis and a release of factors that stimulate proliferation of pulmonary arterial smooth muscle cells
    • Yang X, Long L, Reynolds PN, Morrell NW. Expression of mutant BMPR-II in pulmonary endothelial cells promotes apoptosis and a release of factors that stimulate proliferation of pulmonary arterial smooth muscle cells. Pulm Circ. 2011;1:103-110.
    • (2011) Pulm Circ. , vol.1 , pp. 103-110
    • Yang, X.1    Long, L.2    Reynolds, P.N.3    Morrell, N.W.4
  • 66
    • 84856009900 scopus 로고    scopus 로고
    • Phenotypic spectrum of the smad3-related aneurysms-osteoarthritis syndrome
    • van de Laar IM, van der Linde D, Oei EH, et al. Phenotypic spectrum of the smad3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012;49:47-57.
    • (2012) J Med Genet. , vol.49 , pp. 47-57
    • Van De Laar, I.M.1    Van Der Linde, D.2    Oei, E.H.3
  • 69
    • 33751227533 scopus 로고    scopus 로고
    • Pulmonary hypertension due to BMPR2 mutation: A new paradigm for tissue remodeling?
    • Morrell NW. Pulmonary hypertension due to BMPR2 mutation: a new paradigm for tissue remodeling?. Proc Am Thorac Soc. 2006;3:680-686.
    • (2006) Proc Am Thorac Soc. , vol.3 , pp. 680-686
    • Morrell, N.W.1
  • 73
    • 84884185388 scopus 로고    scopus 로고
    • Critical role for the advanced glycation end-products receptor in pulmonary arterial hypertension etiology
    • Meloche J, Courchesne A, Barrier M, et al.. Critical role for the advanced glycation end-products receptor in pulmonary arterial hypertension etiology. J Am Heart Assoc. 2013;2:e005157.
    • (2013) J Am Heart Assoc. , vol.2
    • Meloche, J.1    Courchesne, A.2    Barrier, M.3
  • 74
    • 77956685602 scopus 로고    scopus 로고
    • BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension
    • Talati M, West J, Blackwell TR, Loyd JE, Meyrick B. BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension. Am J Physiol Lung Cell Mol Physiol. 2010;299:L363-L373.
    • (2010) Am J Physiol Lung Cell Mol Physiol. , vol.299
    • Talati, M.1    West, J.2    Blackwell, T.R.3    Loyd, J.E.4    Meyrick, B.5
  • 76
    • 84871788547 scopus 로고    scopus 로고
    • Sildenafil potentiates bone morphogenetic protein signaling in pulmonary arterial smooth muscle cells and in experimental pulmonary hypertension
    • Yang J, Li X, Al-Lamki RS, Wu C, Weiss A, Berk J, Schermuly RT, Morrell NW. Sildenafil potentiates bone morphogenetic protein signaling in pulmonary arterial smooth muscle cells and in experimental pulmonary hypertension. Arterioscler Thromb Vasc Biol. 2013;33:34-42.
    • (2013) Arterioscler Thromb Vasc Biol. , vol.33 , pp. 34-42
    • Yang, J.1    Li, X.2    Al-Lamki, R.S.3    Wu, C.4    Weiss, A.5    Berk, J.6    Schermuly, R.T.7    Morrell, N.W.8
  • 78
    • 84880704857 scopus 로고    scopus 로고
    • A novel channelopathy in pulmonary arterial hypertension
    • Ma L, Roman-Campos D, Austin ED, et al. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013;369:351-361.
    • (2013) N Engl J Med. , vol.369 , pp. 351-361
    • Ma, L.1    Roman-Campos, D.2    Austin, E.D.3
  • 83
    • 41149124594 scopus 로고    scopus 로고
    • Caveolae as organizers of pharmacologically relevant signal transduction molecules
    • Patel HH, Murray F, Insel PA. Caveolae as organizers of pharmacologically relevant signal transduction molecules. Annu Rev Pharmacol Toxicol. 2008;48:359-391.
    • (2008) Annu Rev Pharmacol Toxicol. , vol.48 , pp. 359-391
    • Patel, H.H.1    Murray, F.2    Insel, P.A.3
  • 88
    • 77951668726 scopus 로고    scopus 로고
    • Caveolae, caveolins, and cavins: Complex control of cellular signalling and inflammation
    • Chidlow JH Jr, Sessa WC. Caveolae, caveolins, and cavins: complex control of cellular signalling and inflammation. Cardiovasc Res. 2010;86:219-225.
    • (2010) Cardiovasc Res. , vol.86 , pp. 219-225
    • Chidlow Jr., J.H.1    Sessa, W.C.2
  • 91
    • 43049124748 scopus 로고    scopus 로고
    • Caveolae and endothelial dysfunction: Filling the caves in cardiovascular disease
    • Xu Y, Buikema H, van Gilst WH, Henning RH. Caveolae and endothelial dysfunction: filling the caves in cardiovascular disease. Eur J Pharmacol. 2008;585:256-260.
    • (2008) Eur J Pharmacol. , vol.585 , pp. 256-260
    • Xu, Y.1    Buikema, H.2    Van Gilst, W.H.3    Henning, R.H.4
  • 92
    • 0035851197 scopus 로고    scopus 로고
    • Caveolin-1 null mice are viable but show evidence of hyperproliferative and vascular abnormalities
    • Razani B, Engelman JA, Wang XB, et al. Caveolin-1 null mice are viable but show evidence of hyperproliferative and vascular abnormalities. J Biol Chem. 2001;276:38121-38138.
    • (2001) J Biol Chem. , vol.276 , pp. 38121-38138
    • Razani, B.1    Engelman, J.A.2    Wang, X.B.3
  • 95
    • 34250880211 scopus 로고    scopus 로고
    • Caveolae and caveolin-1: Novel potential targets for the treatment of cardiovascular disease
    • Frank PG, Hassan GS, Rodriguez-Feo JA, Lisanti MP. Caveolae and caveolin-1: novel potential targets for the treatment of cardiovascular disease. Curr Pharm Design. 2007;13:1761-1769.
    • (2007) Curr Pharm Design. , vol.13 , pp. 1761-1769
    • Frank, P.G.1    Hassan, G.S.2    Rodriguez-Feo, J.A.3    Lisanti, M.P.4
  • 97
    • 34948904709 scopus 로고    scopus 로고
    • Reexpression of caveolin-1 in endothelium rescues the vascular, cardiac, and pulmonary defects in global caveolin-1 knockout mice
    • Murata T, Lin MI, Huang Y, Yu J, Bauer PM, Giordano FJ, Sessa WC. Reexpression of caveolin-1 in endothelium rescues the vascular, cardiac, and pulmonary defects in global caveolin-1 knockout mice. J Exp Med. 2007;204:2373-2382.
    • (2007) J Exp Med. , vol.204 , pp. 2373-2382
    • Murata, T.1    Lin, M.I.2    Huang, Y.3    Yu, J.4    Bauer, P.M.5    Giordano, F.J.6    Sessa, W.C.7
  • 99
    • 34247232180 scopus 로고    scopus 로고
    • Pulmonary artery hypertension: Caveolin- 1 and eNOS interrelationship: A new perspective
    • Mathew R, Huang J, Gewitz MH. Pulmonary artery hypertension: caveolin- 1 and eNOS interrelationship: a new perspective. Cardiol Rev. 2007;15:143-149.
    • (2007) Cardiol Rev. , vol.15 , pp. 143-149
    • Mathew, R.1    Huang, J.2    Gewitz, M.H.3
  • 100
    • 77951293073 scopus 로고    scopus 로고
    • A novel insight into the mechanism of pulmonary hypertension involving caveolin-1 deficiency and endothelial nitric oxide synthase activation
    • Zhao YY, Malik AB. A novel insight into the mechanism of pulmonary hypertension involving caveolin-1 deficiency and endothelial nitric oxide synthase activation. Trends Cardiovasc Med. 2009;19:238-242.
    • (2009) Trends Cardiovasc Med. , vol.19 , pp. 238-242
    • Zhao, Y.Y.1    Malik, A.B.2
  • 104
    • 84891373442 scopus 로고    scopus 로고
    • Eif2ak4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
    • Eyries M, Montani D, Girerd B, et al. Eif2ak4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet. 2014;46:65-69.
    • (2014) Nat Genet. , vol.46 , pp. 65-69
    • Eyries, M.1    Montani, D.2    Girerd, B.3
  • 105
    • 33746881451 scopus 로고    scopus 로고
    • Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A clinicopathologic study of 35 cases
    • Lantuejoul S, Sheppard MN, Corrin B, Burke MM, Nicholson AG. Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: a clinicopathologic study of 35 cases. Am J Surg Pathol. 2006;30:850-857.
    • (2006) Am J Surg Pathol. , vol.30 , pp. 850-857
    • Lantuejoul, S.1    Sheppard, M.N.2    Corrin, B.3    Burke, M.M.4    Nicholson, A.G.5
  • 108
    • 0037379853 scopus 로고    scopus 로고
    • Lack of association between angiotensin converting enzyme (ACE) genotype, serum ACE activity, and haemodynamics in patients with primary pulmonary hypertension
    • Hoeper MM, Tacacs A, Stellmacher U, Lichtinghagen R. Lack of association between angiotensin converting enzyme (ACE) genotype, serum ACE activity, and haemodynamics in patients with primary pulmonary hypertension. Heart. 2003;89:445-446.
    • (2003) Heart. , vol.89 , pp. 445-446
    • Hoeper, M.M.1    Tacacs, A.2    Stellmacher, U.3    Lichtinghagen, R.4
  • 109
    • 30144436344 scopus 로고    scopus 로고
    • Serotonin transporter gene polymorphism in a cohort of German patients with idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension
    • Koehler R, Olschewski H, Hoeper M, Janssen B, Grünig E. Serotonin transporter gene polymorphism in a cohort of German patients with idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension. Chest. 2005;128:619S.
    • (2005) Chest. , vol.128
    • Koehler, R.1    Olschewski, H.2    Hoeper, M.3    Janssen, B.4    Grünig, E.5
  • 110
    • 33645319446 scopus 로고    scopus 로고
    • Genetic association of the serotonin transporter in pulmonary arterial hypertension
    • Machado RD, Koehler R, Glissmeyer E, et al.. Genetic association of the serotonin transporter in pulmonary arterial hypertension. Am J Respir Crit Care Med. 2006;173:793-797.
    • (2006) Am J Respir Crit Care Med. , vol.173 , pp. 793-797
    • Machado, R.D.1    Koehler, R.2    Glissmeyer, E.3
  • 111
    • 33645300735 scopus 로고    scopus 로고
    • Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension
    • Willers ED, Newman JH, Loyd JE, et al.. Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension. Am J Respir Crit Care Med. 2006;173:798-802.
    • (2006) Am J Respir Crit Care Med. , vol.173 , pp. 798-802
    • Willers, E.D.1    Newman, J.H.2    Loyd, J.E.3
  • 114
    • 0037046175 scopus 로고    scopus 로고
    • Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor
    • Atkinson C, Stewart S, Upton PD, Machado R, Thomson JR, Trembath RC, Morrell NW. Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. Circulation. 2002;105:1672-1678.
    • (2002) Circulation. , vol.105 , pp. 1672-1678
    • Atkinson, C.1    Stewart, S.2    Upton, P.D.3    Machado, R.4    Thomson, J.R.5    Trembath, R.C.6    Morrell, N.W.7
  • 118
    • 84878576691 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension
    • Germain M, Eyries M, Montani D, et al.. Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. Nat Genet. 2013;45:518-521.
    • (2013) Nat Genet. , vol.45 , pp. 518-521
    • Germain, M.1    Eyries, M.2    Montani, D.3
  • 120
    • 79955369537 scopus 로고    scopus 로고
    • The serotonin transporter, gender, and 17β oestradiol in the development of pulmonary arterial hypertension
    • White K, Dempsie Y, Nilsen M, Wright AF, Loughlin L, MacLean MR. The serotonin transporter, gender, and 17β oestradiol in the development of pulmonary arterial hypertension. Cardiovasc Res. 2011;90: 373-382.
    • (2011) Cardiovasc Res. , vol.90 , pp. 373-382
    • White, K.1    Dempsie, Y.2    Nilsen, M.3    Wright, A.F.4    Loughlin, L.5    Maclean, M.R.6
  • 121
    • 79955764346 scopus 로고    scopus 로고
    • Serotonin transporter, sex, and hypoxia: Microarray analysis in the pulmonary arteries of mice identifies genes with relevance to human PAH
    • White K, Loughlin L, Maqbool Z, Nilsen M, McClure J, Dempsie Y, Baker AH, MacLean MR. Serotonin transporter, sex, and hypoxia: microarray analysis in the pulmonary arteries of mice identifies genes with relevance to human PAH. Physiol Genomics. 2011;43:417-437.
    • (2011) Physiol Genomics. , vol.43 , pp. 417-437
    • White, K.1    Loughlin, L.2    Maqbool, Z.3    Nilsen, M.4    McClure, J.5    Dempsie, Y.6    Baker, A.H.7    Maclean, M.R.8
  • 122
    • 71049130696 scopus 로고    scopus 로고
    • Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance
    • 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.
    • (2008) BMC Med Genomics. , vol.1 , pp. 45
    • West, J.1    Cogan, J.2    Geraci, M.3    Robinson, L.4    Newman, J.5    Phillips, J.A.6    Lane, K.7    Meyrick, B.8    Loyd, J.9
  • 123
    • 23844494772 scopus 로고    scopus 로고
    • Cytochrome P450-mediated metabolism of estrogens and its regulation in human
    • Tsuchiya Y, Nakajima M, Yokoi T. Cytochrome P450-mediated metabolism of estrogens and its regulation in human. Cancer Lett. 2005;227:115-124.
    • (2005) Cancer Lett. , vol.227 , pp. 115-124
    • Tsuchiya, Y.1    Nakajima, M.2    Yokoi, T.3
  • 124
    • 33846662037 scopus 로고    scopus 로고
    • Cytochrome P450 1B1-mediated estrogen metabolism results in estrogen-deoxyribonucleoside adduct formation
    • Belous AR, Hachey DL, Dawling S, Roodi N, Parl FF. Cytochrome P450 1B1-mediated estrogen metabolism results in estrogen-deoxyribonucleoside adduct formation. Cancer Res. 2007;67:812-817.
    • (2007) Cancer Res. , vol.67 , pp. 812-817
    • Belous, A.R.1    Hachey, D.L.2    Dawling, S.3    Roodi, N.4    Parl, F.F.5
  • 125
    • 11444264897 scopus 로고    scopus 로고
    • Endogenous estrogen, androgen, and progesterone concentrations and breast cancer risk among postmenopausal women
    • Missmer SA, Eliassen AH, Barbieri RL, Hankinson SE. Endogenous estrogen, androgen, and progesterone concentrations and breast cancer risk among postmenopausal women. J Natl Cancer Inst. 2004;96: 1856-1865.
    • (2004) J Natl Cancer Inst. , vol.96 , pp. 1856-1865
    • Missmer, S.A.1    Eliassen, A.H.2    Barbieri, R.L.3    Hankinson, S.E.4
  • 127
    • 65549105008 scopus 로고    scopus 로고
    • Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease
    • Roberts KE, Fallon MB, Krowka MJ, et al. Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease. Am J Respir Crit Care Med. 2009;179:835-842.
    • (2009) Am J Respir Crit Care Med. , vol.179 , pp. 835-842
    • Roberts, K.E.1    Fallon, M.B.2    Krowka, M.J.3
  • 130
    • 66949118228 scopus 로고    scopus 로고
    • Interleukin-6 modulates the expression of the bone morphogenic protein receptor type II through a novel STAT3- microRNA cluster 17/92 pathway
    • Brock M, Trenkmann M, Gay RE, Michel BA, Gay S, Fischler M, Ulrich S, Speich R, Huber LC. Interleukin-6 modulates the expression of the bone morphogenic protein receptor type II through a novel STAT3- microRNA cluster 17/92 pathway. Circ Res. 2009;104:1184-1191.
    • (2009) Circ Res. , vol.104 , pp. 1184-1191
    • Brock, M.1    Trenkmann, M.2    Gay, R.E.3    Michel, B.A.4    Gay, S.5    Fischler, M.6    Ulrich, S.7    Speich, R.8    Huber, L.C.9
  • 131
    • 84880758429 scopus 로고    scopus 로고
    • Holding our breath: The emerging and anticipated roles of microRNA in pulmonary hypertension
    • White K, Loscalzo J, Chan SY. Holding our breath: the emerging and anticipated roles of microRNA in pulmonary hypertension. Pulm Circ. 2012;2:278-290.
    • (2012) Pulm Circ. , vol.2 , pp. 278-290
    • White, K.1    Loscalzo, J.2    Chan, S.Y.3
  • 132
    • 84868515682 scopus 로고    scopus 로고
    • Echocardiography of pulmonary vascular function in asymptomatic carriers of BMPR2 mutations
    • Pavelescu A, Vanderpool R, Vachiéry JL, Grunig E, Naeije R. Echocardiography of pulmonary vascular function in asymptomatic carriers of BMPR2 mutations. Eur Respir J. 2012;40:1287-1289.
    • (2012) Eur Respir J. , vol.40 , pp. 1287-1289
    • Pavelescu, A.1    Vanderpool, R.2    Vachiéry, J.L.3    Grunig, E.4    Naeije, R.5
  • 134
    • 3142692425 scopus 로고    scopus 로고
    • Screening, early detection, and diagnosis of pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines
    • 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.
    • (2004) Chest. , vol.126
    • McGoon, M.1    Gutterman, D.2    Steen, V.3    Barst, R.4    McCrory, D.C.5    Fortin, T.A.6    Loyd, J.E.7
  • 135
    • 84864222742 scopus 로고    scopus 로고
    • The emerging paradigm of network medicine in the study of human disease
    • Chan SY, Loscalzo J. The emerging paradigm of network medicine in the study of human disease. Circ Res. 2012;111:359-374.
    • (2012) Circ Res. , vol.111 , pp. 359-374
    • Chan, S.Y.1    Loscalzo, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.