|
1）Morse JH, Jones AC, Barst RJ, et al. Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. Circulation. 1997; 95: 2603-6
|
|
|
|
2）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
|
|
|
|
|
|
3）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
|
|
|
|
|
|
4）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
|
|
|
|
|
|
5）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
|
|
|
|
|
|
6）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: 446-8
|
|
|
|
|
|
7）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
|
|
|
|
|
|
8）Soubrier F, Chung WK, Machado R, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2013; 62: D13-21
|
|
|
|
|
|
9）Shintani M, Yagi H, Nakayama T, et al. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. J Med Genet. 2009; 46: 331-7
|
|
|
|
|
|
10）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: 336-43
|
|
|
|
|
|
11）Ma L, Roman-Campos D, Austin ED, et al. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013; 369: 351-61
|
|
|
|
|
|
12）Achcar RO, Demura Y, Rai PR, et al. Loss of caveolin and heme oxygenase expression in severe pulmonary hypertension. Chest. 2006; 129: 696-705
|
|
|
|
|
|
13）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: 11375-80
|
|
|
|
|
|
14）Mathew R, Huang J, Shah M, et al. Disruption of endothelial-cell caveolin-1alpha/raft scaffolding during development of monocrotaline-induced pulmonary hypertension. Circulation. 2004; 110: 1499-506
|
|
|
|
|
|
15）Reyes R, Duprat F, Lesage F, et al. Cloning and expression of a novel pH-sensitive two pore domain K+ channel from human kidney. J Biol Chem. 1998; 273: 30863-9
|
|
|
|
|
|
16）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: 957-64
|
|
|
|
|
|
17）Trapp S, Aller MI, Wisden W, et al. A role for TASK-1 (KCNK3) channels in the chemosensory control of breathing. J Neurosci. 2008; 28: 8844-50
|
|
|
|
|
|
18）Yu SP, Choi DW. Ions, cell volume, and apoptosis. Proc Natl Acad Sci U S A. 2000; 97: 9360-2
|
|
|
|
|
|
19）Germain M, Eyries M, Montani D, et al. Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. Nat Genet. 2013; 45: 518-21
|
|
|
|
|