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Volumn 22, Issue SUPPL. 1, 2005, Pages

Idiopathic pulmonary hypertension: What did we learn from genes?

Author keywords

ALK 1; BMPR2; Endoglin; Hereditary hemorrhagic telangiectasia; Primary pulmonary hypertension; Pulmonary arterial hypertension; TGF

Indexed keywords

ANOREXIGENIC AGENT; BONE MORPHOGENETIC PROTEIN; ENDOGLIN; RECEPTOR PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

EID: 31544450578     PISSN: 11240490     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (16)

References (51)
  • 1
    • 0037623284 scopus 로고    scopus 로고
    • Primary pulmonary hypertension
    • Runo JR, Loyd JE: Primary pulmonary hypertension. Lancet 2003; 361: 1533-44.
    • (2003) Lancet , vol.361 , pp. 1533-1544
    • Runo, J.R.1    Loyd, J.E.2
  • 2
    • 2942541475 scopus 로고    scopus 로고
    • Cellular and molecular pathobiology of pulmonary arterial hypertension
    • Humbert M, Morrell NW, Archer SL, et al: Cellular and molecular pathobiology of pulmonary arterial hypertension. J Am Coll Cardiol 2004; 43: 13S-24S.
    • (2004) J Am Coll Cardiol , vol.43
    • Humbert, M.1    Morrell, N.W.2    Archer, S.L.3
  • 3
    • 2942522878 scopus 로고    scopus 로고
    • Clinical classification of pulmonary arterial hypertension
    • Simonneau G, Galie N, Rubin LJ, et al: Clinical classification of pulmonary arterial hypertension. J Am Coll Cardiol 2004; 43: 5S-12S.
    • (2004) J Am Coll Cardiol , vol.43
    • Simonneau, G.1    Galie, N.2    Rubin, L.J.3
  • 4
    • 4644290657 scopus 로고    scopus 로고
    • Treatment of pulmonary arterial hypertension
    • Humbert M, Sitbon O, Simonneau G: Treatment of pulmonary arterial hypertension. N Engl J Med 2004; 351: 1425-36.
    • (2004) N Engl J Med , vol.351 , pp. 1425-1436
    • Humbert, M.1    Sitbon, O.2    Simonneau, G.3
  • 5
    • 70449671451 scopus 로고
    • Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance
    • Dresdale DT, Mitchum RJ, Schultz M: Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance. Bull NY Acad Med 1954; 30: 195-207.
    • (1954) Bull NY Acad Med , vol.30 , pp. 195-207
    • Dresdale, D.T.1    Mitchum, R.J.2    Schultz, M.3
  • 6
    • 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: 194-7.
    • (1984) Am Rev Respir Dis , vol.129 , pp. 194-197
    • Loyd, J.E.1    Primm, R.K.2    Newman, J.H.3
  • 7
    • 0023615359 scopus 로고
    • Primary pulmonary hypertension: A national prospective study
    • Rich S, Dantzker DR, Ayres SM, et al: Primary pulmonary hypertension: a national prospective study. Ann Intern Med 1987; 107: 216-23.
    • (1987) Ann Intern Med , vol.107 , pp. 216-223
    • Rich, S.1    Dantzker, D.R.2    Ayres, S.M.3
  • 8
    • 0029086553 scopus 로고
    • Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension
    • Loyd JE, Butler MG, Foroud TM, et al: Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med 1995; 152: 93-7.
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 93-97
    • Loyd, J.E.1    Butler, M.G.2    Foroud, T.M.3
  • 9
    • 0031019091 scopus 로고    scopus 로고
    • Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32
    • Nichols WC, Koller DL, Slovis B, et al: Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nat Genet 1997; 15: 277-80.
    • (1997) Nat Genet , vol.15 , pp. 277-280
    • Nichols, W.C.1    Koller, D.L.2    Slovis, B.3
  • 10
    • 0033817459 scopus 로고    scopus 로고
    • Heterozygous germline mutations in a TGF-β receptor, BMPR2, are the cause of familial primary pulmonary hypertension
    • The International PPH Consortium: Lane KB, Machado RD, Pauciulo MW, et al: Heterozygous germline mutations in a TGF-β receptor, BMPR2, are the cause of familial primary pulmonary hypertension. Nat Genet 2000; 26: 81-4.
    • (2000) Nat Genet , vol.26 , pp. 81-84
    • Lane, K.B.1    Machado, R.D.2    Pauciulo, M.W.3
  • 11
    • 0033838125 scopus 로고    scopus 로고
    • Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenctic protein receptor-II gene
    • Deng Z, Morse JH, Slager SL, et al: Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenctic protein receptor-II gene. Am J Hum Genet 2000; 67: 737-44.
    • (2000) Am J Hum Genet , vol.67 , pp. 737-744
    • Deng, Z.1    Morse, J.H.2    Slager, S.L.3
  • 12
    • 0034654497 scopus 로고    scopus 로고
    • Controlling TGFβ signaling
    • Massague J, Chen YG: Controlling TGFβ signaling. Genes Dev 2000; 14: 627-44.
    • (2000) Genes Dev , vol.14 , pp. 627-644
    • Massague, J.1    Chen, Y.G.2
  • 13
    • 0034619101 scopus 로고    scopus 로고
    • A gene for primary pulmonary hypertension
    • Wilkins MR, Gibbs JSR, Shovlin CL: A gene for primary pulmonary hypertension. Lancet 2000; 356: 1207-8.
    • (2000) Lancet , vol.356 , pp. 1207-1208
    • Wilkins, M.R.1    Gibbs, J.S.R.2    Shovlin, C.L.3
  • 14
    • 0035797566 scopus 로고    scopus 로고
    • Genetic clues to the cause of primary pulmonary hypertension
    • Loscalzo J: Genetic clues to the cause of primary pulmonary hypertension. N Engl J Med 2001; 345: 367-71.
    • (2001) N Engl J Med , vol.345 , pp. 367-371
    • Loscalzo, J.1
  • 15
    • 0035163071 scopus 로고    scopus 로고
    • BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
    • Machado RD, Pauciulo MW, Thomson JR, et al: BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet 2001; 68: 92-102.
    • (2001) Am J Hum Genet , vol.68 , pp. 92-102
    • Machado, R.D.1    Pauciulo, M.W.2    Thomson, J.R.3
  • 16
    • 0036735752 scopus 로고    scopus 로고
    • Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension
    • Nishihara A, Watabe T, Imamura T, Miyazono K: Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension. Mol Biol Cell 2002; 13: 3055-63.
    • (2002) Mol Biol Cell , vol.13 , pp. 3055-3063
    • Nishihara, A.1    Watabe, T.2    Imamura, T.3    Miyazono, K.4
  • 17
    • 18544376034 scopus 로고    scopus 로고
    • BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives
    • Humbert M, Deng Z, Simonneau G, et al: BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002; 20: 518-23.
    • (2002) Eur Respir J , vol.20 , pp. 518-523
    • Humbert, M.1    Deng, Z.2    Simonneau, G.3
  • 18
    • 0035910729 scopus 로고    scopus 로고
    • Microsatellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension
    • Yeager ME, Halley GR, Golpon HA, Voelkel NF, Tuder RM: Microsatellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension. Circ Res 2001; 88: e2-e11.
    • (2001) Circ Res , vol.88
    • Yeager, M.E.1    Halley, G.R.2    Golpon, H.A.3    Voelkel, N.F.4    Tuder, R.M.5
  • 19
    • 13444309082 scopus 로고    scopus 로고
    • Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension
    • Machado RD, James V, Southwood M, et al: Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation 2005; 111: 607-13.
    • (2005) Circulation , vol.111 , pp. 607-613
    • Machado, R.D.1    James, V.2    Southwood, M.3
  • 20
    • 13444279874 scopus 로고    scopus 로고
    • Pathogenesis of pulmonary arterial hypertension: The need for multiple hits
    • Yuan JXJ, Rubin LJ: Pathogenesis of pulmonary arterial hypertension: the need for multiple hits. Circulation 2005; 111: 534-8.
    • (2005) Circulation , vol.111 , pp. 534-538
    • Yuan, J.X.J.1    Rubin, L.J.2
  • 22
    • 10644239210 scopus 로고    scopus 로고
    • Clinical, haemodynamic and genetic features of familial pulmonary hypertension
    • Sztrymf B, Francoual J, Sitbon O, et al: Clinical, haemodynamic and genetic features of familial pulmonary hypertension. Rev Mal Respir 2004; 21: 909-15.
    • (2004) Rev Mal Respir , vol.21 , pp. 909-915
    • Sztrymf, B.1    Francoual, J.2    Sitbon, O.3
  • 23
    • 0035859940 scopus 로고    scopus 로고
    • Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-β1 and bone morphogenetic proteins
    • Morrell NW, Yang X, Upton PD, et al: Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-β1 and bone morphogenetic proteins. Circulation 2001; 104: 790-5.
    • (2001) Circulation , vol.104 , pp. 790-795
    • Morrell, N.W.1    Yang, X.2    Upton, P.D.3
  • 24
    • 17944386754 scopus 로고    scopus 로고
    • Bone morphogenetic proteins induce apoptosis in human pulmonary vascular smooth muscle cells
    • Zhang S, Fantozzi, Tigno DD, et al: Bone morphogenetic proteins induce apoptosis in human pulmonary vascular smooth muscle cells. Am J Physiol Lung Cell Mol Physiol 2003; 285: L740-54.
    • (2003) Am J Physiol Lung Cell Mol Physiol , vol.285
    • Zhang, S.1    Fantozzi2    Tigno, D.D.3
  • 25
    • 0035797529 scopus 로고    scopus 로고
    • Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred
    • Newman JH, Wheeler L, Lane KB, et al: Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. N Engl J Med 2001; 345: 319-24.
    • (2001) N Engl J Med , vol.345 , pp. 319-324
    • Newman, J.H.1    Wheeler, L.2    Lane, K.B.3
  • 26
    • 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 TGFβ 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 TGFβ family. J Med Genet 2000; 37: 741-5.
    • (2000) J Med Genet , vol.37 , pp. 741-745
    • Thomson, J.R.1    Machado, R.D.2    Pauciulo, M.W.3
  • 27
    • 3042511852 scopus 로고    scopus 로고
    • Pulmonary arterial hypertension: Future directions report of an NHLBI/ORD workshop
    • Newman JH, Fanburg BL, Archer SL, et al: Pulmonary arterial hypertension: future directions report of an NHLBI/ORD workshop. Circulation 2004; 109: 2947-52.
    • (2004) Circulation , vol.109 , pp. 2947-2952
    • Newman, J.H.1    Fanburg, B.L.2    Archer, S.L.3
  • 28
    • 10644256482 scopus 로고    scopus 로고
    • Impaired transforming growth factor-β signaling in idiopathic pulmonary hypertension
    • Richter A, Yeager ME, Zaiman A, et al: Impaired transforming growth factor-β signaling in idiopathic pulmonary hypertension. Am J Respir Crit Care Med 2004; 170: 1340-8.
    • (2004) Am J Respir Crit Care Med , vol.170 , pp. 1340-1348
    • Richter, A.1    Yeager, M.E.2    Zaiman, A.3
  • 29
    • 0032031727 scopus 로고    scopus 로고
    • Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension
    • Lee SD, Shroyer KR, Markham NE, Cool CD, Voelkel NF, Tuder RM: Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension. J Clin Invest 1998; 101: 927-34.
    • (1998) J Clin Invest , vol.101 , pp. 927-934
    • Lee, S.D.1    Shroyer, K.R.2    Markham, N.E.3    Cool, C.D.4    Voelkel, N.F.5    Tuder, R.M.6
  • 30
    • 0034804681 scopus 로고    scopus 로고
    • Clinical classification of pulmonary hypertension
    • Fishman AP: Clinical classification of pulmonary hypertension. Clin Chest Med 2001; 22: 385-91.
    • (2001) Clin Chest Med , vol.22 , pp. 385-391
    • Fishman, A.P.1
  • 31
    • 9444287592 scopus 로고    scopus 로고
    • Appetite-suppressant drugs and the risk of primary pulmonary hypertension
    • Abenhaim L, Moride Y, Brenot F, et al: Appetite-suppressant drugs and the risk of primary pulmonary hypertension. N Engl J Med 1996; 335: 609-16.
    • (1996) N Engl J Med , vol.335 , pp. 609-616
    • Abenhaim, L.1    Moride, Y.2    Brenot, F.3
  • 32
    • 0031718736 scopus 로고    scopus 로고
    • Primary pulmonary hypertension associated with the use of fenfluramine derivatives
    • Simonneau G, Fartoukh M, Sitbon O, Humbert M, Jagot J-L, Hervé P: Primary pulmonary hypertension associated with the use of fenfluramine derivatives. Chest 1998; 114: 195S-198S.
    • (1998) Chest , vol.114
    • Simonneau, G.1    Fartoukh, M.2    Sitbon, O.3    Humbert, M.4    Jagot, J.-L.5    Hervé, P.6
  • 33
    • 2942581061 scopus 로고    scopus 로고
    • Genetic basis of pulmonary arterial hypertension; Current understanding and future directions
    • Newmann 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
    • Newmann, J.H.1    Trembath, R.C.2    Morse, J.A.3
  • 34
    • 4544386270 scopus 로고    scopus 로고
    • BMPR2 mutations in pulmonary arterial hypertension with congenital heart defects
    • Roberts KE, McElroy JJ, Wong WP, et al: BMPR2 mutations in pulmonary arterial hypertension with congenital heart defects. Eur Respir J 2004; 24: 371-4.
    • (2004) Eur Respir J , vol.24 , pp. 371-374
    • Roberts, K.E.1    McElroy, J.J.2    Wong, W.P.3
  • 35
    • 0031106404 scopus 로고    scopus 로고
    • Transforming growth factor beta: Vasculogenesis, angiogenesis and vessel wall integrity
    • Pepper MS: Transforming growth factor beta: vasculogenesis, angiogenesis and vessel wall integrity. Cytokine Growth Factor Rev 1997; 8: 21-43.
    • (1997) Cytokine Growth Factor Rev , vol.8 , pp. 21-43
    • Pepper, M.S.1
  • 36
    • 0032799731 scopus 로고    scopus 로고
    • Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms
    • Shovlin CL, Letarte M: Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54: 714-29.
    • (1999) Thorax , vol.54 , pp. 714-729
    • Shovlin, C.L.1    Letarte, M.2
  • 37
    • 0035797556 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    • Trembath R, 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: 325-34.
    • (2001) N Engl J Med , vol.345 , pp. 325-334
    • Trembath, R.1    Thomson, J.R.2    Machado, R.D.3
  • 38
    • 1542504799 scopus 로고    scopus 로고
    • Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia
    • Abdalla SA, Gallione CJ, Barst RJ, et al: Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 2004; 23: 373-7.
    • (2004) Eur Respir J , vol.23 , pp. 373-377
    • Abdalla, S.A.1    Gallione, C.J.2    Barst, R.J.3
  • 39
    • 13444256185 scopus 로고    scopus 로고
    • Transforming growth factor-β mutations and pulmonary arterial hypertension in childhood
    • Harrison RE, Berger R, Haworth SG, et al: Transforming growth factor-β mutations and pulmonary arterial hypertension in childhood. Circulation 2005; 111: 435-41.
    • (2005) Circulation , vol.111 , pp. 435-441
    • Harrison, R.E.1    Berger, R.2    Haworth, S.G.3
  • 40
    • 2442519516 scopus 로고    scopus 로고
    • Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arteial hypertension
    • Chaouat A, Coufet F, Favre C, et al: Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arteial hypertension. Thorax 2004; 59: 446-8.
    • (2004) Thorax , vol.59 , pp. 446-448
    • Chaouat, A.1    Coufet, F.2    Favre, C.3
  • 41
    • 0025309285 scopus 로고
    • Primary pulmonary hypertension in a patient with a familial platelet storage pool
    • Hervé P, Drouet L, Dosquet C, et al: Primary pulmonary hypertension in a patient with a familial platelet storage pool. Am J Med 1990; 89: 117-20.
    • (1990) Am J Med , vol.89 , pp. 117-120
    • Hervé, P.1    Drouet, L.2    Dosquet, C.3
  • 42
    • 0029033224 scopus 로고
    • Increased plasma serotonin in primary pulmonary hypertension
    • Hervé P, Launay JM, Scrobohaci ML, et al: Increased plasma serotonin in primary pulmonary hypertension. Am J Med 1995; 99: 249-54.
    • (1995) Am J Med , vol.99 , pp. 249-254
    • Hervé, P.1    Launay, J.M.2    Scrobohaci, M.L.3
  • 43
    • 0034776773 scopus 로고    scopus 로고
    • Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension
    • Eddahibi S, Humbert M, Fadel E, et al: Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. J Clin Invest 2001; 108: 1141-50.
    • (2001) J Clin Invest , vol.108 , pp. 1141-1150
    • Eddahibi, S.1    Humbert, M.2    Fadel, E.3
  • 44
    • 0142085751 scopus 로고    scopus 로고
    • Polymorphism of the serotonin transporter gene and pulmonary hypertension in chronic obstructive pulmonary disease
    • Eddahibi S, Chaouat A, Morrel N, et al: Polymorphism of the serotonin transporter gene and pulmonary hypertension in chronic obstructive pulmonary disease. Circulation 2003; 108: 1839-44.
    • (2003) Circulation , vol.108 , pp. 1839-1844
    • Eddahibi, S.1    Chaouat, A.2    Morrel, N.3
  • 45
    • 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, et al: 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
  • 46
    • 0034609543 scopus 로고    scopus 로고
    • Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene
    • Grunig E, Janssen B, Mercles D, et al: Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene. Circulation 2000; 102: 1145-50.
    • (2000) Circulation , vol.102 , pp. 1145-1150
    • Grunig, E.1    Janssen, B.2    Mercles, D.3
  • 47
    • 25444464092 scopus 로고    scopus 로고
    • Pharmacogenetics, pharmacogenomics and airway disease
    • Hall IP: Pharmacogenetics, pharmacogenomics and airway disease. Respir Res 2002; 3: 10.
    • (2002) Respir Res , vol.3 , pp. 10
    • Hall, I.P.1
  • 48
    • 0000730228 scopus 로고    scopus 로고
    • Subjects deficient for CYP2D6 expression (poor metabolisers) are over-represented among patients with anorectic associated pulmonary hypertension
    • Higenbottam T, Humbert M, Simonneau G, et al: Subjects deficient for CYP2D6 expression (poor metabolisers) are over-represented among patients with anorectic associated pulmonary hypertension. Am J Respir Crit Care Med 1999; 159: A165.
    • (1999) Am J Respir Crit Care Med , vol.159
    • Higenbottam, T.1    Humbert, M.2    Simonneau, G.3
  • 49
    • 20544448927 scopus 로고    scopus 로고
    • Long-term response to calcium-channel blockers in idiopathic pulmonary arterial hypertension
    • Sitbon O, Humbert M, Jais X, et al: Long-term response to calcium-channel blockers in idiopathic pulmonary arterial hypertension. Circulation 2005; in press.
    • (2005) Circulation
    • Sitbon, O.1    Humbert, M.2    Jais, X.3
  • 50
    • 0037421604 scopus 로고    scopus 로고
    • Signaling molecules in non familial pulmonary hypertension
    • Du L, Sullivan CC, Chu D, et al: Signaling molecules in non familial pulmonary hypertension. N Engl J Med 2003; 348: 500-9.
    • (2003) N Engl J Med , vol.348 , pp. 500-509
    • Du, L.1    Sullivan, C.C.2    Chu, D.3


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