Article
Whole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertension.
American journal of respiratory and critical care medicine - 15 May 2014
de Jesus Perez Vinicio A, Yuan Ke, Lyuksyutova Maria A, Dewey Frederick, Orcholski Mark E, Shuffle Eric M, Mathur Maya, Yancy Luke, Rojas Vanessa, Li Caiyun Grace, Cao Aiqin, Alastalo Tero-Pekka, Khazeni Nayer, Cimprich Karlene A, Butte Atul J, Ashley Euan, Zamanian Roham T
Abstract excerpt
RATIONALE: Idiopathic pulmonary arterial hypertension (IPAH) is a life-threatening disorder characterized by progressive loss of pulmonary microvessels. Although mutations in the bone morphogenetic receptor 2 (BMPR2) are found in 80% of heritable and ∼15% of patients with IPAH, their low penetrance (∼20%) suggests that other unidentified genetic modifiers are required for manifestation of the disease phenotype....
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