메뉴 건너뛰기




Volumn 24, Issue 3, 2004, Pages 371-374

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease

Author keywords

Bone morphogenetic protein; Congenital heart defects; Eisenmenger syndrome; Pulmonary hypertension; Receptor 2 mutations

Indexed keywords

BONE MORPHOGENETIC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

EID: 4544386270     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.04.00018604     Document Type: Article
Times cited : (202)

References (24)
  • 1
    • 0003819518 scopus 로고    scopus 로고
    • Primary pulmonary hypertension: Executive summary from the World Symposium-Primary Pulmonary Hypertension
    • ed. Available at www.who.int/ncd/cvd/.pph.html; last accessed: 11 July
    • Rich S. ed. Primary pulmonary hypertension: executive summary from the World Symposium-Primary Pulmonary Hypertension. Available at www.who.int/ncd/cvd/.pph.html; last accessed: 11 July 2001.
    • (2001)
    • Rich, S.1
  • 2
    • 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
  • 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
    • 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
  • 5
    • 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-B 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-B 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
  • 6
    • 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 Resp J 2002; 20: 518-523.
    • (2002) Eur. Resp. J. , vol.20 , pp. 518-523
    • Humbert, M.1    Deng, Z.2    Simonneau, G.3
  • 7
    • 4243344141 scopus 로고    scopus 로고
    • Declining mortality from HIV-associated pulmonary arterial hypertension with combined use of highly active anti-retroviral therapy and long-term epoprostenol infusion
    • Nunes H, Humbert M, Sitbon O, et al. Declining mortality from HIV-associated pulmonary arterial hypertension with combined use of highly active anti-retroviral therapy and long-term epoprostenol infusion. Am J Resp Crit Care Med 2002; 20: 518-523.
    • (2002) Am. J. Resp. Crit. Care Med. , vol.20 , pp. 518-523
    • Nunes, H.1    Humbert, M.2    Sitbon, O.3
  • 8
    • 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, et al. Pulmonary hypertension in scleroderma spectrum of disease: Lack of bone morphogenetic protein receptor 2 mutations. J Rheumatol 2002; 11: 2379-2381.
    • (2002) J. Rheumatol. , vol.11 , pp. 2379-2381
    • Morse, J.1    Barst, R.2    Horn, E.3
  • 10
    • 84866616219 scopus 로고
    • Primary pulmonary hypertension
    • Friedman WF, ed. Proceedings of the National Heart, Lung, and Blood Institute pediatric cardiology workshop: Pulmonary Hypertension
    • Barst RJ. Primary pulmonary hypertension. In: Friedman WF, ed. Proceedings of the National Heart, Lung, and Blood Institute pediatric cardiology workshop: pulmonary hypertension. Pediatric Res 1986; 20: 816-817.
    • (1986) Pediatric Res. , vol.20 , pp. 816-817
    • Barst, R.J.1
  • 12
    • 0029737070 scopus 로고    scopus 로고
    • Bone morphogenetic proteins: Multifunctional regulators of vertebrate development
    • Hogan BL. Bone morphogenetic proteins: multifunctional regulators of vertebrate development. Genes Dev 1996; 10: 1580-1594.
    • (1996) Genes Dev. , vol.10 , pp. 1580-1594
    • Hogan, B.L.1
  • 13
    • 0037022660 scopus 로고    scopus 로고
    • Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3
    • Gaussin V, Van de PT, Mishina Y, et al. Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3. Proc Natl Acad Sci USA 2002; 99: 2878-2883.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 2878-2883
    • Gaussin, V.1    Van de, P.T.2    Mishina, Y.3
  • 15
    • 0037235556 scopus 로고    scopus 로고
    • Development and Disease. BMP signaling is required for septation of the outflow tract of the mammalian heart
    • Delot EC, Bahamonde ME, Zhao M, Lyons KM. Development and Disease. 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
    • Delot, E.C.1    Bahamonde, M.E.2    Zhao, M.3    Lyons, K.M.4
  • 16
    • 0141445966 scopus 로고    scopus 로고
    • An essential role of Bmp4 in the atrioventricular septation of the mouse heart
    • Jiao K, Kulessa H, Tompkins K, et al. An essential role of Bmp4 in the atrioventricular septation of the mouse heart. Genes Dev 2003; 17: 2362-2367.
    • (2003) Genes Dev. , vol.17 , pp. 2362-2367
    • Jiao, K.1    Kulessa, H.2    Tompkins, K.3
  • 17
    • 0033537630 scopus 로고    scopus 로고
    • Vasodilator therapy for primary pulmonary hypertension in children
    • Barst RJ, Maislin G, Fishman AP. Vasodilator therapy for primary pulmonary hypertension in children. Circulation 1999; 99: 1197-1208.
    • (1999) Circulation , vol.99 , pp. 1197-1208
    • Barst, R.J.1    Maislin, G.2    Fishman, A.P.3
  • 18
    • 4544278868 scopus 로고    scopus 로고
    • Pulmonary arterial hypertension: Future directions report of an NHLBI/ORD workshop
    • (in press)
    • Newman JH, Fanburg BL, Archer SL, et al. Pulmonary arterial hypertension: future directions report of an NHLBI/ORD workshop. Circulation 2004 (in press).
    • (2004) Circulation
    • Newman, J.H.1    Fanburg, B.L.2    Archer, S.L.3
  • 19
    • 0031671780 scopus 로고    scopus 로고
    • Primary pulmonary hypertension between inflammation and cancer
    • Voelkel NF, Cool C, Lee SD, et al. Primary pulmonary hypertension between inflammation and cancer. Chest 1998; 114: 225S-230S.
    • (1998) Chest , vol.114
    • Voelkel, N.F.1    Cool, C.2    Lee, S.D.3
  • 20
    • 0034193390 scopus 로고    scopus 로고
    • BMP type II receptor is required for gastrulation and early development of mouse embryos
    • Beppu H, Kawabata M, Hamamoto T, et al. BMP type II receptor is required for gastrulation and early development of mouse embryos. Dev Biol 2000; 221: 249-258.
    • (2000) Dev. Biol. , vol.221 , pp. 249-258
    • Beppu, H.1    Kawabata, M.2    Hamamoto, T.3
  • 21
    • 0021215850 scopus 로고
    • Small ventricular septal defect associated with severe pulmonary hypertension
    • Bleiden LC, Moller JH. Small ventricular septal defect associated with severe pulmonary hypertension. Br Heart J 1984; 52: 117-118.
    • (1984) Br. Heart J. , vol.52 , pp. 117-118
    • Bleiden, L.C.1    Moller, J.H.2
  • 22
    • 0020662430 scopus 로고
    • Severe pulmonary hypertension associated with a small ventricular septal defect
    • Bisset GS, III, Hirschfeld SS. Severe pulmonary hypertension associated with a small ventricular septal defect. Circulation 1983; 67: 470-473.
    • (1983) Circulation , vol.67 , pp. 470-473
    • Bisset III, G.S.1    Hirschfeld, S.S.2
  • 23
    • 0020673305 scopus 로고
    • Pulmonary vascular disease in secundum atrial septal defect in childhood
    • Haworth SG. Pulmonary vascular disease in secundum atrial septal defect in childhood. Am J Cardiol 1983; 51: 265-272.
    • (1983) Am. J. Cardiol. , vol.51 , pp. 265-272
    • Haworth, S.G.1
  • 24
    • 0026562479 scopus 로고
    • Familial pulmonary hypertension: Immunogetic findings in four Caucasian kindreds
    • Morse JH, Barst RJ, Fotino M. Familial pulmonary hypertension: immunogetic findings in four Caucasian kindreds. Am Rev Respir Dis 1992; 145: 787-792.
    • (1992) Am. Rev. Respir. Dis. , vol.145 , pp. 787-792
    • Morse, J.H.1    Barst, R.J.2    Fotino, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.