心臓血管疾患における遺伝学的検査と遺伝カウ ... - 日本循環器学会

循 環 器 病 の 診 断 と 治 療 に 関 するガイドライン(2010 年 度 合 同 研 究 班 報 告 )圧 症 の 全 国 調 査 - 肺 移 植 適 応 症 例 患 者 の 実 態 調 査 ( 第 1報 ). 小 児 循 環 器 学 会 誌 2000; 6: 136-143.71. 栗 山 喬 之 . 肺 高 血 圧 の 臨 床 . 日 胸 疾 会 誌 1992; 30: 3-11.72. Nichols WC, KollerSlobis B, et al. Localization of the genefor familial primary pulmonary hupertension to chromosome2q31-32. Nat Genet 1997; 15: 277-281.73. Morse JH, Jones AC, Knowles JA, et al. Mapping offamilial primary pulmonary hypertension locus (PPH1) tochromosome 2q31-q32, Circulation 1997; 95: 2603-2606.74. Deng Z, Morse JH, Slager SL, et al. Familial primarypulmonary hypertension (gene PPH1) is caused by mutationsin the bone morphogenetic protein receptor-II gene. Am JHum Genet 2000; 67: 737-744.75. Lane KB, Machado RD, Psuciulo JR, et al. TheInternational PPH Consortium. Heterozygous germlinemutations in BMPR2, encoding a TGF-beta receptor, causefamilial primary pulmonary hypertension. Nat Genet 2000;26: 81-84.76. Loscalzo J. Genetic clues to the cause of primarypulmonary hypertension. N Engl J Med 2001; 345: 367-371.77. Newman JH, Wheeler L, Lane KB, et al. Mutations in thegene for bone morphogenetic protein receptor II as a cause ofprimary pulmonary hypertension in a large kindred. N Engl JMed 2001; 345: 319-324. [Errata, N Engl J Med 2001; 345:1506, 2002; 346: 1258].78. Atkinson C, Stewart S, Upton P, et al. Primary pulmonaryhypertension is associated with reduced pulmonary vascularexpression of type II bone morphogenetic protein receptor.Circulation 2002; 105: 1672-1678.79. Machado RD, Aldred MA, James V, et al. Mutations of theTGF-beta type II receptor BMPR2 in pulmonary arterialhypertension. Hum Mutat 2006; 27: 121-132.80. Thompson JR, Machado RD, Pauciulo MW, et al. Sporadicprimary pulmonary hypertension is associated with germlinemutations of the gene encoding BMPR-II, a receptor memberof the TGF-β family. J Med Genet 2000; 37: 741-745.81. Morse JH. Bone morphogenetic receptor protein 2mutations in pulmonary hypertension. Chest 2002; 121: 50-53.82. Morse JH, Barst RJ, Fotino M, et al. Primary pulmonaryhypertension, tissue plasminogen activator antibodies, andHLA-DQ7. Am J Respir Crit Care Med 1997; 155: 274-278.83. Liu F, Ventura F, Doody J, et al. Human type II receptor forbone morphogenic protein (BMPs): extension of the twokinasereceptor model to theBMPs. Mol Cell Biol 1995; 15:3479-3486.84. Ten Dijke P, Goumans NJ, Itoh F, et al. Regulations cellproliferation by SMAD Proteins. J Cell Physiol 2002; 191:1-16.85. Bellusci S, Henderson R, Winnier G, et al. Evidence fromnormal expression and targeted misexpression that bonemorphogenetic protein (Bmp-4) plays a role in mouseembryonic lung morphogenesis. Development 1996; 122:1693-1702.86. McAlliser KA, Grogg KM, JohnsonDW et al. Endoglin, aTGF-beta binding protein of endothelial cells, is the gene forhereditary haemorrhagic telangiectasia type 1. Nat Genet1994; 8: 345-351.87. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in theactivin receptor-like kinase 1 gene in hereditary haemorrhagictelangiectasia type 2. Nat Genet 1996; 13: 189-195.88. Du L, Sullivan CC, Chu D, et al. Signaling molecules innonfamilial pulmonary hypertension. N Engl J Med 2003;348: 500-509.89. Rudges JS, Thurston G, Yancopoulos GD. Angiopietin-1and pulmonary hypertension: cause or cure? Circ Res 2003;92: 947-949.90. Zhao YD, Campbell AI, Robb M, et al. Protective role ofangiopietin-1 in experimental pulmonary hypertension. CircRes 2003; 92: 984-991.91. Launay JM, Herve P, Peoc’h K, et al. Function of theserotonin 5-hydroxytryptamine 2B receptor in pulmonaryhypertension. Nat. Med 2002; 8: 1129-1135.92. MorrellNW, Yang X, Upton PD, et al. Altered growthresponses of pulmonary artery smooth muscle cells frompatients with primary pulmonary hypertension to transforminggrowth factor-beta (1) and bone morphogenetic proteins.Circulation 2001; 104: 790-795.93. Strange JW, Wharton J, Phillips PG, et al. Recent insightinto the pathogenesis and therapeutics of pulmonaryhypertension. Clin Sci 2002; 102: 253-268.94. Newman JH, Fanburg BL, Archer SL, et al. Pulmonaryarterial hypertension, Future directions. Circulation 2004;109: 2947-2952.95. Newman JH, Trebmath RC, Morse JA, et al. Genetic basisof pulmonary arterial hypertension: current understanding andfuture directions. J Am Coll Cardiol 2004; 43: 33S-39S.96. Souza R, Humbert M, Sztrymf B, et al. Pulmonary arterialhypertension associated with fenfluramine exposure: report of109 cases. Eur Respir J 2008; 31: 343-348.97. Runo JR, Vnencak-Jones CL, Prince M, et al. Pulmonaryveno-occlusive disease caused by an inherited mutation inbone morphogenetic protein receptor II. Am J Respir CritCare Med 2003; 167: 889-894.98. Grunig E, Mereles D, Arnold K et al. Primary pulmonaryhypertension is predominantly a hereditary disease. Chest2002; 121 (3 Suppl): 81S-82S.99. Lientz EA, Clayton EW. Psychosocial implications ofprimary pulmonary hypertension. Am J Hum Genet 2000;59 (suppl-2): 209-211.100. Bossone E, Rubenfire M, Bach DS, et al. Range of tricuspidregurgetation velocity at rest and during exercise in normaladult men: implications for the diagnosis of pulmonaryhypertension. J Am Coll Cardiol 1999; 33: 1662-1663.101. McGoon M, Gutterman D, Steen V, et al. Screening, earlydetection, and diagnosis of pulmonary arterial hypertension.ACCP evidence-based clinical practice guidelines. Chest2004; 126 (1 Suppl): 14S-34S.44