文献リスト

1) 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: 81-4

2) 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: 737-44

3) 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: 325-34

4) 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: 741-5

5) 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

6) 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

7) Eickelberg O, Morty RE. Transforming growth factor beta/bone morphogenic protein signaling in pulmonary arterial hypertension: remodeling revisited. Trends Cardiovasc Med. 2007; 17: 263-9

8) Rubin LJ. Diagnosis and management of pulmo­nary arterial hypertension: ACCP evidence-based clinical practice guidelines. Chest. 2004; 126: 7S-10S

9) Simonneau G, Robbins IM, Beghetti M, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2009; 54: S43-54

10) Morisaki H, Nakanishi N, Kyotani S, et al. BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat. 2004; 23: 632

11) 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: 121-32

12) Cogan JD, Pauciulo MW, Batchman AP, et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hyper­tension. Am J Respir Crit Care Med. 2006; 174: 590-8

13) Machado RD, Eickelberg O, Elliott CG, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009; 54: S32-42

14) Souza R, Humbert M, Sztrymf B, et al. Pulmonary arterial hypertension associated with fenflura­mine exposure: report of 109 cases. Eur Respir J. 2008; 31: 343-8

15) Runo JR, Vnencak-Jones CL, Prince M, et al. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am J Respir Crit Care Med. 2003; 167: 889-94

16) Rigelsky CM, Jennings C, Lehtonen R, et al. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. Am J Med Genet A. 2008; 146A: 2551-6

17) 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: 865-71

18) Newman JH, Phillips JA, 3rd, Loyd JE. Narrative review: the enigma of pulmonary arterial hyper­tension: new insights from genetic studies. Ann Intern Med. 2008; 148: 278-83

19) Yang X, Long L, Southwood M, et al. Dysfunc­tional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension. Circ Res. 2005; 96: 1053-63

20) Hansmann G, de Jesus Perez VA, Alastalo TP, et al. An antiproliferative BMP-2/PPARgamma/apoE axis in human and murine SMCs and its role in pulmonary hypertension. J Clin Invest. 2008; 118: 1846-57

21) 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

22) Phillips JA 3rd, Poling JS, Phillips CA, et al. Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genet Med. 2008; 10: 359-65

23) Marasini B, Cossutta R, Selmi C, et al. Polymor­phism of the fractalkine receptor CX3CR1 and systemic sclerosis-associated pulmonary arterial hypertension. Clin Dev Immunol. 2005; 12: 275-9

24) Kawaguchi Y, Tochimoto A, Hara M, et al. NOS2 polymorphisms associated with the susceptibility to pulmonary arterial hypertension with systemic sclerosis: contribution to the transcriptional activity. Arthritis Res Ther. 2006; 8: R104

25) Chung WK, Deng L, Carroll JS, et al. Polymor­phism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension. J Heart Lung Transplant. 2009; 28: 373-9

NPO医学中央雑誌刊行会 https://www.jamas.or.jp/ info@jamas.or.jp