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KMID : 0882420100780010020
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Korean Journal of Medicine
2010 Volume.78 No. 1 p.20 ~ p.27
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Genetics in heritable pulmonary arterial hypertension
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Lee Young-Jae
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Abstract
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Pulmonary arterial hypertension is caused by vascular remodeling including muscularization of arteries, loss of small precapillary arteries, and formation of neointima and plexiform lesion, resulting in a progressive increase in pulmonary vascular resistance. About 70% of heritable pulmonary arterial hypertension and 10% to 40% of idiopathic pulmonary arterial hypertension patients possess mutations in bone morphogenetic protein receptor, type 2 (BMPR2), which is a type II receptor of TGF-β superfamily. Very rarely, mutations in another receptors of TGF-β superfamily, activin-like kinase-type 1 (ALK1) and endoglin (ENG) are found in pulmonary arterial hypertension patients with hereditary hemorrhagic telangiectasia. Genetic screening is useful to identify family members who are mutation carriers in heritable pulmonary arterial hypertension families. (Korean J Med 78:20-27, 2010)
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KEYWORD
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Pulmonary arterial hypertension, BMPR2 receptor, ALK1 receptor, human, ENG receptor, human, Genetic screening
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