메뉴 건너뛰기




Volumn 29, Issue 6, 2014, Pages 520-527

Genetics of pulmonary hypertension

Author keywords

Genetics; Pulmonary arterial hypertension; Pulmonary capillary hemangiomatosis; Pulmonary hypertension; Pulmonary veno occlusive disease

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; CAVEOLIN 1; BMPR2 PROTEIN, HUMAN;

EID: 84927722023     PISSN: 02684705     EISSN: 15317080     Source Type: Journal    
DOI: 10.1097/HCO.0000000000000105     Document Type: Review
Times cited : (36)

References (71)
  • 1
    • 84890606655 scopus 로고    scopus 로고
    • Right heart adaptation to pulmonary arterial hypertension: Physiology and pathobiology
    • Vonk-Noordegraaf A, Haddad F, Chin KM, et al. Right heart adaptation to pulmonary arterial hypertension: physiology and pathobiology. J Am Coll Cardiol 2013; 62:D22-D33.
    • (2013) J Am Coll Cardiol , vol.62 , pp. D22-D33
    • Vonk-Noordegraaf, A.1    Haddad, F.2    Chin, K.M.3
  • 2
    • 79960103454 scopus 로고    scopus 로고
    • Delay in recognition of pulmonary arterial hypertension: Factors identified from the REVEAL Registry
    • Brown LM, Chen H, Halpern S, et al. Delay in recognition of pulmonary arterial hypertension: factors identified from the REVEAL Registry. Chest 2011; 140:19-26.
    • (2011) Chest , vol.140 , pp. 19-26
    • Brown, L.M.1    Chen, H.2    Halpern, S.3
  • 3
    • 0033817459 scopus 로고    scopus 로고
    • Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. the International PPH Consortium
    • Lane KB, Machado RD, Pauciulo MW,et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet 2000; 26:81-84.
    • (2000) Nat Genet , vol.26 , pp. 81-84
    • Lane, K.B.1    Machado, R.D.2    Pauciulo, M.W.3
  • 4
    • 0033838125 scopus 로고    scopus 로고
    • Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic 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 morphogenetic protein receptor-II gene. Am J Hum Genet 2000; 67:737-744.
    • (2000) Am J Hum Genet , vol.67 , pp. 737-744
    • Deng, Z.1    Morse, J.H.2    Slager, S.L.3
  • 5
    • 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
  • 6
    • 2442519516 scopus 로고    scopus 로고
    • Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
    • Chaouat A, Coulet F, Favre C, et al. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. Thorax 2004; 59:446-448.
    • (2004) Thorax , vol.59 , pp. 446-448
    • Chaouat, A.1    Coulet, F.2    Favre, C.3
  • 7
    • 66249125359 scopus 로고    scopus 로고
    • A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension
    • Shintani M, Yagi H, Nakayama T, et al. 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
  • 8
    • 84864330965 scopus 로고    scopus 로고
    • Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension
    • Austin ED, Ma L, LeDuc C, et al. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet 2012; 5:336-343.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 336-343
    • Austin, E.D.1    Ma, L.2    Leduc, C.3
  • 9
    • 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. The investigators discovered mutations in a gene (KCNK3) that causes heritable PAH.
    • (2013) N Engl J Med , vol.369 , pp. 351-361
    • Ma, L.1    Roman-Campos, D.2    Austin, E.D.3
  • 10
    • 84893709864 scopus 로고    scopus 로고
    • EIF2AK4 mutations in pulmonary capillary hemangiomatosis
    • Best DH, Sumner KL, Austin ED, et al. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest 2014; 145:231-236.
    • (2014) Chest , vol.145 , pp. 231-236
    • Best, D.H.1    Sumner, K.L.2    Austin, E.D.3
  • 11
    • 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
  • 12
    • 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
  • 13
    • 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
  • 14
    • 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; 15:277-280.
    • (1997) Nat Genet , vol.15 , pp. 277-280
    • Nichols, W.C.1    Koller, D.L.2    Slovis, B.3
  • 15
    • 0030956055 scopus 로고    scopus 로고
    • Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32.
    • Morse JH, Jones AC, Barst RJ, et al. Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. Circulation 1997; 95:2603-2606.
    • (1997) Circulation , vol.95 , pp. 2603-2606
    • Morse, J.H.1    Jones, A.C.2    Barst, R.J.3
  • 16
    • 13444256185 scopus 로고    scopus 로고
    • Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood
    • Harrison RE, Berger R, Haworth SG, et al. Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation 2005; 111:435-441.
    • (2005) Circulation , vol.111 , pp. 435-441
    • Harrison, R.E.1    Berger, R.2    Haworth, S.G.3
  • 17
    • 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
  • 18
  • 19
  • 20
    • 66549103618 scopus 로고    scopus 로고
    • Clinical and translational implications of the caveolin gene family: Lessons from mouse models and human genetic disorders
    • Mercier I, Jasmin JF, Pavlides S, et al. Clinical and translational implications of the caveolin gene family: Lessons from mouse models and human genetic disorders. Lab Invest 2009; 89:614-623.
    • (2009) Lab Invest , vol.89 , pp. 614-623
    • Mercier, I.1    Jasmin, J.F.2    Pavlides, S.3
  • 21
    • 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, J.H.1    Sessa, W.C.2
  • 22
    • 0026559095 scopus 로고
    • Caveolin, a protein component of caveolae membrane coats
    • Rothberg KG, Heuser JE, Donzell WC, et al. Caveolin, a protein component of caveolae membrane coats. Cell 1992; 68:673-682.
    • (1992) Cell , vol.68 , pp. 673-682
    • Rothberg, K.G.1    Heuser, J.E.2    Donzell, W.C.3
  • 24
    • 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
  • 25
    • 0037143769 scopus 로고    scopus 로고
    • Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice
    • Zhao YY, Liu Y, Stan RV, et al. Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice. Proc Natl Acad Sci U S A 2002; 99:11375-11380.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 11375-11380
    • Zhao, Y.Y.1    Liu, Y.2    Stan, R.V.3
  • 26
    • 45849153459 scopus 로고    scopus 로고
    • Increased pulmonary vascular resistance and defective pulmonary artery filling in caveolin-1-/- mice
    • Maniatis NA, Shinin V, Schraufnagel DE, et al. Increased pulmonary vascular resistance and defective pulmonary artery filling in caveolin-1-/- mice. Am J Physiol Lung Cell Mol Physiol 2008; 294:L865-L873.
    • (2008) Am J Physiol Lung Cell Mol Physiol , vol.294 , pp. L865-L873
    • Maniatis, N.A.1    Shinin, V.2    Schraufnagel, D.E.3
  • 27
    • 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 Des 2007; 13:1761-1769.
    • (2007) Curr Pharm des , vol.13 , pp. 1761-1769
    • Frank, P.G.1    Hassan, G.S.2    Rodriguez-Feo, J.A.3    Lisanti, M.P.4
  • 28
    • 0035964954 scopus 로고    scopus 로고
    • Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice
    • Drab M, Verkade P, Elger M, et al. Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice. Science 2001; 293:2449-2452.
    • (2001) Science , vol.293 , pp. 2449-2452
    • Drab, M.1    Verkade, P.2    Elger, M.3
  • 29
    • 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, et al. 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
  • 30
    • 51649118761 scopus 로고    scopus 로고
    • Caveolin-1 regulates BMPRII localization and signaling in vascular smooth muscle cells
    • Wertz JW, Bauer PM. Caveolin-1 regulates BMPRII localization and signaling in vascular smooth muscle cells. Biochem Biophys Res Commun 2008; 375:557-561.
    • (2008) Biochem Biophys Res Commun , vol.375 , pp. 557-561
    • Wertz, J.W.1    Bauer, P.M.2
  • 31
    • 14644396524 scopus 로고    scopus 로고
    • Dynamics and interaction of caveolin-1 isoforms with BMP-receptors
    • Nohe A, Keating E, Underhill TM, et al. Dynamics and interaction of caveolin-1 isoforms with BMP-receptors. J Cell Sci 2005; 118:643-650.
    • (2005) J Cell Sci , vol.118 , pp. 643-650
    • Nohe, A.1    Keating, E.2    Underhill, T.M.3
  • 32
    • 29144475243 scopus 로고    scopus 로고
    • The BMP type II receptor is located in lipid rafts, including caveolae, of pulmonary endothelium in vivo and in vitro
    • Ramos M, Lame MW, Segall HJ, Wilson DW. The BMP type II receptor is located in lipid rafts, including caveolae, of pulmonary endothelium in vivo and in vitro. Vascul Pharmacol 2006; 44:50-59.
    • (2006) Vascul Pharmacol , vol.44 , pp. 50-59
    • Ramos, M.1    Lame, M.W.2    Segall, H.J.3    Wilson, D.W.4
  • 33
    • 33749586993 scopus 로고    scopus 로고
    • Different routes of bone morphogenic protein (BMP) receptor endocytosis influence BMP signaling
    • Hartung A, Bitton-Worms K, Rechtman MM, et al. Different routes of bone morphogenic protein (BMP) receptor endocytosis influence BMP signaling. Mol Cell Biol 2006; 26:7791-7805.
    • (2006) Mol Cell Biol , vol.26 , pp. 7791-7805
    • Hartung, A.1    Bitton-Worms, K.2    Rechtman, M.M.3
  • 34
    • 0029901663 scopus 로고    scopus 로고
    • Targeting of nitric oxide synthase to endothelial cell caveolae via palmitoylation: Implications for nitric oxide signaling
    • Garcia-Cardena G, Oh P, Liu J, et al. Targeting of nitric oxide synthase to endothelial cell caveolae via palmitoylation: Implications for nitric oxide signaling. Proc Natl Acad Sci U S A 1996; 93:6448-6453.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 6448-6453
    • Garcia-Cardena, G.1    Oh, P.2    Liu, J.3
  • 35
    • 0039397709 scopus 로고    scopus 로고
    • Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the NOS caveolin binding domain in vivo
    • Garcia-Cardena G, Martasek P, Masters BS, et al. Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the NOS caveolin binding domain in vivo. J Biol Chem 1997; 272:25437-25440.
    • (1997) J Biol Chem , vol.272 , pp. 25437-25440
    • Garcia-Cardena, G.1    Martasek, P.2    Masters, B.S.3
  • 36
    • 24744452818 scopus 로고    scopus 로고
    • The double regulation of endothelial nitric oxide synthase by caveolae and caveolin: A paradox solved through the study of angiogenesis
    • Sbaa E, Frerart F, Feron O. The double regulation of endothelial nitric oxide synthase by caveolae and caveolin: a paradox solved through the study of angiogenesis. Trends Cardiovasc Med 2005; 15:157-162.
    • (2005) Trends Cardiovasc Med , vol.15 , pp. 157-162
    • Sbaa, E.1    Frerart, F.2    Feron, O.3
  • 37
    • 32444450490 scopus 로고    scopus 로고
    • Caveolins and the regulation of endothelial nitric oxide synthase in the heart
    • Feron O, Balligand JL. Caveolins and the regulation of endothelial nitric oxide synthase in the heart. Cardiovasc Res 2006; 69:788-797.
    • (2006) Cardiovasc Res , vol.69 , pp. 788-797
    • Feron, O.1    Balligand, J.L.2
  • 38
    • 33746424427 scopus 로고    scopus 로고
    • Nitric oxide, caveolae, and vascular pathology
    • Li XA, Everson W, Smart EJ. Nitric oxide, caveolae, and vascular pathology. Cardiovasc Toxicol 2006; 6:1-13.
    • (2006) Cardiovasc Toxicol , vol.6 , pp. 1-13
    • Li, X.A.1    Everson, W.2    Smart, E.J.3
  • 39
    • 33749678218 scopus 로고    scopus 로고
    • Novel mechanism of endothelial nitric oxide synthase activation mediated by caveolae internalization in endothelial cells
    • Maniatis NA, Brovkovych V, Allen SE, et al. Novel mechanism of endothelial nitric oxide synthase activation mediated by caveolae internalization in endothelial cells. Circ Res 2006; 99:870-877.
    • (2006) Circ Res , vol.99 , pp. 870-877
    • Maniatis, N.A.1    Brovkovych, V.2    Allen, S.E.3
  • 40
    • 77950484537 scopus 로고    scopus 로고
    • Caveolae, caveolin and control of vascular tone: Nitric oxide (NO) and endothelium derived hyperpolarizing factor (EDHF) regulation
    • Rath G, Dessy C, Feron O. Caveolae, caveolin and control of vascular tone: Nitric oxide (NO) and endothelium derived hyperpolarizing factor (EDHF) regulation. J Physiol Pharmacol 2009; 60 (Suppl 4):105-109.
    • (2009) J Physiol Pharmacol , vol.60 , pp. 105-109
    • Rath, G.1    Dessy, C.2    Feron, O.3
  • 41
    • 77952891002 scopus 로고    scopus 로고
    • The regulation of endothelial nitric oxide synthase by caveolin: A paradigm validated in vivo and shared by the 'endothelium- derived hyperpolarizing factor'
    • Dessy C, Feron O, Balligand JL. The regulation of endothelial nitric oxide synthase by caveolin: a paradigm validated in vivo and shared by the 'endothelium- derived hyperpolarizing factor'. Pflugers Arch 2010; 459:817-827.
    • (2010) Pflugers Arch , vol.459 , pp. 817-827
    • Dessy, C.1    Feron, O.2    Balligand, J.L.3
  • 42
    • 34548484104 scopus 로고    scopus 로고
    • Increased smooth muscle cell expression of caveolin-1 and caveolae contribute to the pathophysiology of idiopathic pulmonary arterial hypertension
    • Patel HH, Zhang S, Murray F, et al. Increased smooth muscle cell expression of caveolin-1 and caveolae contribute to the pathophysiology of idiopathic pulmonary arterial hypertension. FASEB J 2007; 21:2970-2979.
    • (2007) FASEB J , vol.21 , pp. 2970-2979
    • Patel, H.H.1    Zhang, S.2    Murray, F.3
  • 43
    • 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
  • 44
    • 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
  • 45
    • 68849084669 scopus 로고    scopus 로고
    • Persistent ENOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration
    • Zhao YY, Zhao YD, Mirza MK, et al. Persistent ENOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. J Clin Invest 2009; 119:2009-2018.
    • (2009) J Clin Invest , vol.119 , pp. 2009-2018
    • Zhao, Y.Y.1    Zhao, Y.D.2    Mirza, M.K.3
  • 46
    • 84899631957 scopus 로고    scopus 로고
    • The genetic basis of pulmonary arterial hypertension
    • Ma L, Chung WK. The genetic basis of pulmonary arterial hypertension. Hum Genet 2014; 133:471-479.
    • (2014) Hum Genet , vol.133 , pp. 471-479
    • Ma, L.1    Chung, W.K.2
  • 47
    • 0242637581 scopus 로고    scopus 로고
    • Two-pore domain K channel, TASK-1, in pulmonary artery smooth muscle cells
    • Gurney AM, Osipenko ON, MacMillan D, et al. Two-pore domain K channel, TASK-1, in pulmonary artery smooth muscle cells. Circ Res 2003; 93:957-964.
    • (2003) Circ Res , Issue.93 , pp. 957-964
    • Gurney, A.M.1    Osipenko, O.N.2    Macmillan, D.3
  • 48
    • 0035854748 scopus 로고    scopus 로고
    • Combined antisense and pharmacological approaches implicate hTASK as an airway O(2) sensing K(+) channel
    • Hartness ME, Lewis A, Searle GJ, et al. Combined antisense and pharmacological approaches implicate hTASK as an airway O(2) sensing K(+) channel. J Biol Chem 2001; 276:26499-26508.
    • (2001) J Biol Chem , vol.276 , pp. 26499-26508
    • Hartness, M.E.1    Lewis, A.2    Searle, G.J.3
  • 49
    • 84872202945 scopus 로고    scopus 로고
    • Src tyrosine kinase is crucial for potassium channel function in human pulmonary arteries
    • Nagaraj C, Tang B, Balint Z, et al. Src tyrosine kinase is crucial for potassium channel function in human pulmonary arteries. Eur Respir J 2013; 41:85-95.
    • (2013) Eur Respir J , vol.41 , pp. 85-95
    • Nagaraj, C.1    Tang, B.2    Balint, Z.3
  • 50
    • 33646816053 scopus 로고    scopus 로고
    • Impact of TASK-1 in human pulmonary artery smooth muscle cells
    • Olschewski A, Li Y, Tang B, et al. Impact of TASK-1 in human pulmonary artery smooth muscle cells. Circ Res 2006; 98:1072-1080.
    • (2006) Circ Res , vol.98 , pp. 1072-1080
    • Olschewski, A.1    Li, Y.2    Tang, B.3
  • 51
    • 0030944919 scopus 로고    scopus 로고
    • Regulation of the resting potential of rabbit pulmonary artery myocytes by a low threshold, O2-sensing potassium current
    • Osipenko ON, Evans AM, Gurney AM. Regulation of the resting potential of rabbit pulmonary artery myocytes by a low threshold, O2-sensing potassium current. Br J Pharmacol 1997; 120:1461-1470.
    • (1997) Br J Pharmacol , vol.120 , pp. 1461-1470
    • Osipenko, O.N.1    Evans, A.M.2    Gurney, A.M.3
  • 52
    • 67649579669 scopus 로고    scopus 로고
    • Updated clinical classification of pulmonary hypertension
    • Simonneau G, Robbins IM, Beghetti M, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2009; 54:S43-S54.
    • (2009) J Am Coll Cardiol , vol.54 , pp. S43-S54
    • Simonneau, G.1    Robbins, I.M.2    Beghetti, M.3
  • 53
    • 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, Dorfmu¨ller P, et al. Pulmonary veno-occlusive disease: Clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine 2008; 87:220-233.
    • (2008) Medicine , vol.87 , pp. 220-233
    • Montani, D.1    Achouh, L.2    Dorfmu3    Die4    Ller, P.5
  • 55
    • 0023713604 scopus 로고
    • Pulmonary veno-occlusive disease associated with severe reduction of single-breath carbon monoxide diffusing capacity
    • Elliott CG, Colby TV, Hill T, Crapo RO. Pulmonary veno-occlusive disease associated with severe reduction of single-breath carbon monoxide diffusing capacity. Respiration 1988; 53:262-266.
    • (1988) Respiration , vol.53 , pp. 262-266
    • Elliott, C.G.1    Colby, T.V.2    Hill, T.3    Crapo, R.O.4
  • 56
    • 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, et al. 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
  • 57
    • 0001598487 scopus 로고    scopus 로고
    • Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase
    • Berlanga JJ, Santoyo J, De Haro C. Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase. Eur J Biochem 1999; 265:754-762.
    • (1999) Eur J Biochem , vol.265 , pp. 754-762
    • Berlanga, J.J.1    Santoyo, J.2    De Haro, C.3
  • 58
    • 84890687841 scopus 로고    scopus 로고
    • Genetics and genomics of pulmonary arterial hypertension
    • Soubrier F, Chung WK, Machado R, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol 2013; 62:D13-21.
    • J Am Coll Cardiol , vol.62 , pp. D13-21
    • Soubrier, F.1    Chung, W.K.2    Machado, R.3
  • 59
    • 84868273339 scopus 로고    scopus 로고
    • Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension
    • Larkin EK, Newman JH, Austin ED, et al. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med 2012; 186:892-896.
    • (2012) Am J Respir Crit Care Med , vol.186 , pp. 892-896
    • Larkin, E.K.1    Newman, J.H.2    Austin, E.D.3
  • 60
    • 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, et al. 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
  • 61
    • 63749109111 scopus 로고    scopus 로고
    • Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
    • Hamid R, Cogan JD, Hedges LK, et al. Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. Hum Mutat 2009; 30:649-654.
    • (2009) Hum Mutat , vol.30 , pp. 649-654
    • Hamid, R.1    Cogan, J.D.2    Hedges, L.K.3
  • 62
    • 71049187330 scopus 로고    scopus 로고
    • Alterations in oestrogen metabolism: Implications for higher penetrance of familial pulmonary arterial hypertension in females
    • Austin ED, Cogan JD, West JD, et al. Alterations in oestrogen metabolism: Implications for higher penetrance of familial pulmonary arterial hypertension in females. Eur Respir J 2009; 34:1093-1099.
    • (2009) Eur Respir J , vol.34 , pp. 1093-1099
    • Austin, E.D.1    Cogan, J.D.2    West, J.D.3
  • 63
    • 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
  • 64
    • 84865446457 scopus 로고    scopus 로고
    • Activity of the estrogen-metabolizing enzyme cytochrome P450 1B1 influences the development of pulmonary arterial hypertension
    • White K, Johansen AK, Nilsen M, et al. Activity of the estrogen-metabolizing enzyme cytochrome P450 1B1 influences the development of pulmonary arterial hypertension. Circulation 2012; 126:1087-1098.
    • (2012) Circulation , vol.126 , pp. 1087-1098
    • White, K.1    Johansen, A.K.2    Nilsen, M.3
  • 65
    • 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
  • 66
    • 79960013903 scopus 로고    scopus 로고
    • Unrecognized glucose intolerance is common in pulmonary arterial hypertension
    • Pugh ME, Robbins IM, Rice TW, et al. Unrecognized glucose intolerance is common in pulmonary arterial hypertension. J Heart Lung Transplant 2011; 30:904-911.
    • (2011) J Heart Lung Transplant , vol.30 , pp. 904-911
    • Pugh, M.E.1    Robbins, I.M.2    Rice, T.W.3
  • 67
    • 33947731898 scopus 로고    scopus 로고
    • Pulmonary arterial hypertension is linked to insulin resistance and reversed by peroxisome proliferator- activated receptor-g activation
    • Hansmann G, Wagner RA, Schellong S, et al. Pulmonary arterial hypertension is linked to insulin resistance and reversed by peroxisome proliferator- activated receptor-g activation. Circulation 2007; 115:1275-1284.
    • (2007) Circulation , vol.115 , pp. 1275-1284
    • Hansmann, G.1    Wagner, R.A.2    Schellong, S.3
  • 68
    • 84893616450 scopus 로고    scopus 로고
    • Evidence for right ventricular lipotoxicity in heritable pulmonary arterial hypertension
    • Hemnes AR, Brittain EL, Trammell AW, et al. Evidence for right ventricular lipotoxicity in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med 2014; 189:325-334.
    • (2014) Am J Respir Crit Care Med , vol.189 , pp. 325-334
    • Hemnes, A.R.1    Brittain, E.L.2    Trammell, A.W.3
  • 69
    • 84876367698 scopus 로고    scopus 로고
    • Chloroquine prevents progression of experimental pulmonary hypertension via inhibition of autophagy and lysosomal bone morphogenetic protein type II receptor degradation
    • Long L, Yang X, Southwood M, et al. Chloroquine prevents progression of experimental pulmonary hypertension via inhibition of autophagy and lysosomal bone morphogenetic protein type II receptor degradation. Circ Res 2013; 112:1159-1170.
    • (2013) Circ Res , vol.112 , pp. 1159-1170
    • Long, L.1    Yang, X.2    Southwood, M.3
  • 70
    • 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 , pp. 14S-34S
    • McGoon, M.1    Gutterman, D.2    Steen, V.3
  • 71
    • 84861850389 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation
    • Frydman N, Steffann J, Girerd B, et al. Preimplantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation. Eur Respir J 2012; 39:1534-1535.
    • (2012) Eur Respir J , vol.39 , pp. 1534-1535
    • Frydman, N.1    Steffann, J.2    Girerd, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.