Functional characterization of <b> <i>KCNA5</i> </b> gene variants linked to pulmonary arterial hypertension
<title>Extract</title> 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].
Authors
- Vasile Foris (ORCID: https://orcid.org/0000-0002-8863-0298)
- Réka Csáki (ORCID: https://orcid.org/0000-0003-1819-3720)
- Andrea Olschewski (ORCID: https://orcid.org/0000-0002-8189-3634)
- Katrin Milger (ORCID: https://orcid.org/0000-0003-2914-8773)
- Michael Halank (ORCID: https://orcid.org/0000-0002-9184-4799)
- János Almássy (ORCID: https://orcid.org/0000-0002-9620-802X)
- Péter Enyedi (ORCID: https://orcid.org/0000-0001-9541-0712)
- Chandran Nagaraj (ORCID: https://orcid.org/0000-0003-3825-8587)
- Horst Olschewski (ORCID: https://orcid.org/0000-0002-2834-7466)
- Khodr Tello (ORCID: https://orcid.org/0000-0002-5557-623X)
- Ekkehard Grünig (ORCID: https://orcid.org/0000-0001-7318-3918)
- Katrin Hinderhofer (ORCID: https://orcid.org/0000-0003-1493-4608)
- Balázs Tóth (ORCID: https://orcid.org/0000-0002-1257-2597)
- Alice Dobolyi
- Hans‐Jürgen Seyfarth
- Karen M. Olsson
- H Klose
- Christina A. Eichstaedt
Institutions
- Semmelweis University (HU)
- Sigmund Freud Privatuniversität Wien (AT)
- Universität Hamburg (DE)
- Medical University of Graz (AT)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Ludwig Boltzmann Institute for Lung Vascular Research (AT)
- University Medical Center Hamburg-Eppendorf (DE)
- Institute of Human Genetics (PL)
- University Hospital Leipzig (DE)
- German Center for Lung Research (DE)
- Universities of Giessen and Marburg Lung Center (DE)
- University Hospital Carl Gustav Carus (DE)
Publication Details
- Journal
- European Respiratory Journal
- Published
- 2026-06-18
- DOI
- https://doi.org/10.1183/13993003.00429-2026
- Primary Topic
- Pulmonary Hypertension Research and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00