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Pathophysiology and Genetics: BMPR2

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Diagnosis and Treatment of Pulmonary Hypertension
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Abstract

Recent advances in genomic research have provided us a deeper understanding of the pathogenesis of PAH. In the early 2000s, genetic linkage analysis using large families showed rare variants in the type II receptor for the bone morphogenetic protein (BMPR2), which is a member of the transforming growth factor-beta (TGF-β) cell signaling superfamily, are the first major genetic cause of PAH. In other linkage analyses and candidate gene approaches for TGF-β superfamily signaling pathway, ALK1, ENG, SMAD4, and SMAD9 were associated with the development of hereditary and other forms of PAH, which underscores the role of this pathway in the development of occlusive pulmonary vasculopathy. The whole genome sequencing in selected families and the analysis of common variation in large PAH population provided a wider view of the underlying genetic architecture of heritable and idiopathic PAH. Unmasking the biological link between BMPR2 mutations and occlusive pulmonary vascular pathology will identify new disease mechanisms and novel therapeutic targets in the future.

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Correspondence to Yoshihide Mitani .

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Mitani, Y. (2017). Pathophysiology and Genetics: BMPR2. In: Fukumoto, Y. (eds) Diagnosis and Treatment of Pulmonary Hypertension. Springer, Singapore. https://doi.org/10.1007/978-981-287-840-3_9

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  • DOI: https://doi.org/10.1007/978-981-287-840-3_9

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