Article
Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension.
Circulation - 16 Jun 2020
Potus François, Pauciulo Michael W, Cook Elina K, Zhu Na, Hsieh Alexander, Welch Carrie L, Shen Yufeng, Tian Lian, Lima Patricia, Mewburn Jeffrey, D'Arsigny Christine L, Lutz Katie A, Coleman Anna W, Damico Rachel, Snetsinger Brooke, Martin Ashley Y, Hassoun Paul M, Nichols William C, Chung Wendy K, Rauh Michael J, Archer Stephen L
Abstract excerpt
BACKGROUND: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy. Hereditary cases are associated with germline mutations in BMPR2 and 16 other genes; however, these mutations occur in <25% of patients with idiopathic PAH and are rare in PAH associated with connective tissue diseases. Preclinical studies suggest epigenetic dysregulation, including altered DNA methylation, promotes PAH. Somatic mutations...
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