Potassium channelopathy implicated in the pathogenesis of familial pah

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Potassium channelopathy implicated in the pathogenesis of familial pah"


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Access through your institution Buy or subscribe A gene encoding the potassium channel subfamily K, member 3 (_KCNK3_) has been discovered to be involved in the pathogenesis of familial and


idiopathic pulmonary arterial hypertension (PAH). “We have been studying the genetic basis of pulmonary hypertension for many years,” says Wendy K. Chung from Columbia University Medical


Center, New York, NY, USA, who led the study. “[We] have been using exome sequencing to identify new genes for PAH in our families who clearly appeared to have an underlying genetic basis


... [but] who did not have mutations in any of the known PAH genes.” PAH is rare, with a prevalence of around 15–50 cases per million in the general population. Treatment options for this


progressive disease are limited, and long-term mortality remains high. Familial PAH is known to be caused by mutations in several genes, including those encoding bone morphogenetic protein


receptor type-2 (_BMPR2_), serine/threonine-protein kinase receptor R3 (_ALK1_), endoglin (_ENG_), and caveolin-1 (_CAV1_). However, the genetic basis of disease is unknown in a quarter of


patients with familial PAH. This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through your institution Subscribe to this journal Receive 12 print


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PAPER * Ma, L. _ et al_. A novel channelopathy in pulmonary arterial hypertension. _N. Engl. J. Med._ 369, 351–361 (2013) Article  CAS  Google Scholar  Download references Authors *


Alexandra Roberts View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE


Roberts, A. Potassium channelopathy implicated in the pathogenesis of familial PAH. _Nat Rev Cardiol_ 10, 550 (2013). https://doi.org/10.1038/nrcardio.2013.123 Download citation * Published:


13 August 2013 * Issue Date: October 2013 * DOI: https://doi.org/10.1038/nrcardio.2013.123 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get


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Potassium channelopathy implicated in the pathogenesis of familial pah

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