Functional characterisation of KCNA5 gene variants linked to pulmonary arterial hypertension
Year: 2026
Type: article
Abstract: Extract Pulmonary arterial hypertension (PAH) is a progressive pulmonary vascular disease with heritable forms that account for approximately 10–20% of cases [1]. Beyond variants in the TGF-β signaling pathway (BMPR2), mutations in ion channel genes have emerged as impactful contributors to disease pathogenesis [2]. Potassium channels are key regulators of pulmonary arterial smooth muscle cell (PASMC) membrane potential and calcium homeostasis, and their dysfunction promotes vasoconstriction and proliferation [3].
Source: European Respiratory Journal
Authors: Réka Csáki, Vasile Foris, Christina A. Eichstaedt, János Almássy, Alice Dobolyi, Chandran Nagaraj, Balázs Tóth, Michael Halank, Ekkehard Grünig, Katrin Hinderhofer, Hans Klose, Katrin Milger, Karen M. Olsson, Hans-Jürgen Seyfarth, Khodr Tello, Horst Olschewski, Andrea Olschewski, Péter Enyedi
Institutions: Semmelweis University, Brigham and Women's Hospital, Harvard University, Medical University of Graz, Heidelberg University, University Hospital Heidelberg, German Center for Lung Research, University Hospital Carl Gustav Carus, Technische Universität Dresden, University Medical Center Hamburg-Eppendorf, Ludwig-Maximilians-Universität München, Medizinische Hochschule Hannover, University Hospital Leipzig, Leipzig University, Universitätsklinikum Gießen und Marburg, Universities of Giessen and Marburg Lung Center, Sigmund Freud Privatuniversität Wien, Stiftung Charité, Charité - Universitätsmedizin Berlin, Karl Landsteiner University of Health Sciences
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7165156404