유전성 폐동맥고혈압과 관련된 유전자 연구

키워드

참고문헌 (50)

1. Gaine SP, "Primary pulmonary hypertension", Lancet, 352, pp.719~725 (1998)
2. Humbert M, "Pulmonary arterial hypertension in France: results from a national registry", Am J Respir Crit Care Med, 173, pp.1023~1030 (2006)
3. Simonneau G, "Updated clinical classification of pulmonary hypertension", J Am Coll Cardiol, 54, pp.S43~54 (2009)
4. Rabinovitch M, "Molecular pathogenesis of pulmonary arterial hypertension", J Clin Invest, 118, pp.2372~2379 (2008)
5. Deng Z, "Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene", Am J Hum Genet, 67, pp.737~744 (2000)
6. International PPH Consortium, "Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension", Nat Genet, 26, pp.81~84 (2000)
7. Newman JH, "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, 345, pp.319~324 (2001)
8. Trembath RC, "Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia", N Engl J Med, 345, pp.325~334 (2001)
9. Chaouat A, "Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension", Thorax, 59, pp.446~448 (2004)
10. Rich S, "Primary pulmonary hypertension. A national prospective study", Ann Intern Med, 107, pp.216~223 (1987)
11. Machado RD, "Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension", Hum Mutat, 27, pp.121~132 (2006)
12. Cogan JD, "Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension", Genet Med, 7, pp.169~174 (2005)
13. Aldred MA, "BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension", Hum Mutat, 27, pp.212~213 (2006)
14. Thomson JR, "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, 37, pp.741~745 (2000)
15. Souza R, "Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases", Eur Respir J, 31, pp.343~348 (2008)
16. Aldred MA, "haracterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension", Am J Respir Crit Care Med, 176, pp.819~824 (2007)
17. Machado RD, "Genetic association of the serotonin transporter in pulmonary arterial hypertension", Am J Respir Crit Care Med, 173, pp.793~797 (2006)
18. Machado RD, "Genetics and genomics of pulmonary arterial hypertension", J Am Coll Cardiol, 54, pp.S32~42 (2009)
19. Chang H, "Genetic analysis of the mammalian transforming growth factor-beta superfamily", Endocr Rev, 23, pp.787~823 (2002)
20. Goumans MJ, "Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta", ALK5 signaling, 2003, pp.12, 817~828
21. Rahimi RA, "TGF-beta signaling: a tale of two responses", J Cell Biochem, 102, pp.593~608 (2007)
22. Hassel S, "Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry", Proteomics, 4, pp.1346~1358 (2004)
23. Yang X, "Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension", Circ Res, 96, pp.1053~1063 (2005)
24. Machado RD, "Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform- specific and disrupted by mutations underlying primary pulmonary hypertension", Hum Mol Genet, 12, pp.3277~3286 (2003)
25. Rudarakanchana N, "Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension", Hum Mol Genet, 11, pp.1517~1525 (2002)
26. Harrison RE, "Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia", J Med Genet, 40, pp.865~871 (2003)
27. Mache CJ, "Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1", Thorax, 63, pp.85~86 (2008)
28. Harrison RE, "Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood", Circulation, 111, pp.435~441 (2005)
29. Fujiwara M, "Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension", Circ J, 72, pp.127~133 (2008)
30. Gallione CJ, "A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)", Lancet, 363, pp.852~859 (2004)
31. Gallione CJ, "SMAD4 mutations found in unselected HHT patients", J Med Genet, 43, pp.793~797 (2006)
32. Upton PD, "TGF-beta and BMPR-II pharmacology-- implications for pulmonary vascular diseases", Curr Opin Pharmacol, 9, pp.274~280 (2009)
33. David L, "Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells", Blood, 109, pp.1953~1961 (2007)
34. Teichert-Kuliszewska K, "Bone morphogenetic protein receptor-2 signaling promotes pulmonary arterial endothelial cell survival: implications for loss-of-function mutations in the pathogenesis of pulmonary hypertension", Circ Res, 98, pp.209~217 (2006)
35. Atkinson C, "Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor", Circulation, 105, pp.1672~1678 (2002)
36. Morrell NW, "Cellular and molecular basis of pulmonary arterial hypertension", J Am Coll Cardiol, 54, pp.S20~31 (2009)
37. Hagen M, "Interaction of interleukin-6 and the BMP pathway in pulmonary smooth muscle", Am J Physiol Lung Cell Mol Physiol, 292, pp.L1473~1479 (2007)
38. Beppu H, "BMP type II receptor is required for gastrulation and early development of mouse embryos", Dev Biol, 221, pp.249~258 (2000)
39. Long L, "Serotonin increases susceptibility to pulmonary hypertension in BMPR2-deficient mice", Circ Res, 98, pp.818~827 (2006)
40. Song Y, "Increased susceptibility to pulmonary hypertension in heterozygous BMPR2-mutant mice", Circulation, 112, pp.553~562 (2005)
41. Hong KH, "Genetic ablation of the BMPR2 gene in pulmonary endothelium is sufficient to predispose to pulmonary arterial hypertension", Circulation, 118, pp.722~730 (2008)
42. Remillard CV, "Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension", Am J Physiol Cell Physiol, 292, pp.C1837~1853 (2007)
43. Eddahibi S, "Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension", J Clin Invest, 108, pp.1141~1150 (2001)
44. Koehler R, "Serotonin transporter gene polymorphism in a cohort of German patients with idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension", Chest, 128, pp.619S~ (2005)
45. Willers ED, "Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension", Am J Respir Crit Care Med, 173, pp.798~802 (2006)
46. Amano S, "Polymorphism of the promoter region of prostacyclin synthase gene in chronic thromboembolic pulmonary hypertension", Respirology, 9, pp.184~189 (2004)
47. Abraham WT, "Angiotensin-converting enzyme DD genotype in patients with primary pulmonary hype rtension: increased frequency and association with preserved haemodynamics", J Renin Angiotensin Aldosterone Syst, 4, pp.27~30 (2003)
48. Aldashev AA, "Characterization of high-altitude pulmonary hypertension in the Kyrgyz: association with angiotensin- converting enzyme genotype", Am J Respir Crit Care Med, 166, pp.1396~1402 (2002)
49. Shintani M, "A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension", J Med Genet, 46, pp.331~337 (2009)
50. Schouten JP, "Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification", Nucleic Acids Res, 30, pp.e57~ (2002)

관련 논문AI추천