At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension
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Division of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USA
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Division of Pulmonary and Critical Care Medicine, Intermountain Medical Center, Salt Lake City, UT 84107, USA
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Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA
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Richard L. Roudebush Veterans Affairs Medical Center, Indianapolis, IN 46202, USA
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Department of Anatomy, Cell Biology & Physiology, Indiana University School of Medicine, Indianapolis, IN 46202, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(11), 1371; https://doi.org/10.3390/genes11111371
Received: 29 September 2020
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Revised: 10 November 2020
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Accepted: 17 November 2020
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Published: 20 November 2020
(This article belongs to the Special Issue Genetics and Genomics of Pulmonary Arterial Hypertension)
Group 1 pulmonary hypertension (pulmonary arterial hypertension; PAH) is a rare disease characterized by remodeling of the small pulmonary arteries leading to progressive elevation of pulmonary vascular resistance, ultimately leading to right ventricular failure and death. Deleterious mutations in the serine-threonine receptor bone morphogenetic protein receptor 2 (BMPR2; a central mediator of bone morphogenetic protein (BMP) signaling) and female sex are known risk factors for the development of PAH in humans. In this narrative review, we explore the complex interplay between the BMP and estrogen signaling pathways, and the potentially synergistic mechanisms by which these signaling cascades increase the risk of developing PAH. A comprehensive understanding of these tangled pathways may reveal therapeutic targets to prevent or slow the progression of PAH.
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Keywords:
bone morphogenetic protein receptor type 2; heritable; familial; estrogen; estradiol; penetrance; gender; PAH
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MDPI and ACS Style
Cirulis, M.M.; Dodson, M.W.; Brown, L.M.; Brown, S.M.; Lahm, T.; Elliott, G. At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension. Genes 2020, 11, 1371. https://doi.org/10.3390/genes11111371
AMA Style
Cirulis MM, Dodson MW, Brown LM, Brown SM, Lahm T, Elliott G. At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension. Genes. 2020; 11(11):1371. https://doi.org/10.3390/genes11111371
Chicago/Turabian StyleCirulis, Meghan M., Mark W. Dodson, Lynn M. Brown, Samuel M. Brown, Tim Lahm, and Greg Elliott. 2020. "At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension" Genes 11, no. 11: 1371. https://doi.org/10.3390/genes11111371
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