Ontology highlight
ABSTRACT:
SUBMITTER: Bohnen MS
PROVIDER: S-EPMC6206877 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Bohnen Michael S MS Ma Lijiang L Zhu Na N Qi Hongjian H McClenaghan Conor C Gonzaga-Jauregui Claudia C Dewey Frederick E FE Overton John D JD Reid Jeffrey G JG Shuldiner Alan R AR Baras Aris A Sampson Kevin J KJ Bleda Marta M Hadinnapola Charaka C Haimel Matthias M Bogaard Harm J HJ Church Colin C Coghlan Gerry G Corris Paul A PA Eyries Mélanie M Gibbs J Simon R JSR Girerd Barbara B Houweling Arjan C AC Humbert Marc M Guignabert Christophe C Kiely David G DG Lawrie Allan A MacKenzie Ross Rob V RV Martin Jennifer M JM Montani David D Peacock Andrew J AJ Pepke-Zaba Joanna J Soubrier Florent F Suntharalingam Jay J Toshner Mark M Treacy Carmen M CM Trembath Richard C RC Vonk Noordegraaf Anton A Wharton John J Wilkins Martin R MR Wort Stephen J SJ Yates Katherine K Gräf Stefan S Morrell Nicholas W NW Krishnan Usha U Rosenzweig Erika B EB Shen Yufeng Y Nichols Colin G CG Kass Robert S RS Chung Wendy K WK
Circulation. Genomic and precision medicine 20181001 10
<h4>Background</h4>In pulmonary arterial hypertension (PAH), pathological changes in pulmonary arterioles progressively raise pulmonary artery pressure and increase pulmonary vascular resistance, leading to right heart failure and high mortality rates. Recently, the first potassium channelopathy in PAH, because of mutations in KCNK3, was identified as a genetic cause and pharmacological target.<h4>Methods</h4>Exome sequencing was performed to identify novel genes in a cohort of 99 pediatric and ...[more]