Przeglądaj wg Słowo kluczowe "idiopathic pulmonary arterial hypertension"

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    Genetic alterations in bone morphogenic protein receptor 2 in Polish patients diagnosed with idiopathic pulmonary arterial hypertension
    (Via Medica, 2025-08-11) Borys, Agnieszka M.; Jonas, Kamil; Sochacka, Ewelina; Kołton-Wróż, Maria; Wołkow, Paweł; Wypasek, Ewa; Pelc, Ewa; Małecki, Maciej T.; Kopeć, Grzegorz; Totoń-Żurańska, Justyna
    Introduction: "Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by structural changes in the pulmonary vessels and elevated pressure in the pulmonary artery, leading to right ventricular hypertrophy and right heart failure [1–3]. Idiopathic PAH (IPAH) is diagnosed by excluding other potential causes of pulmonary hypertension. The most commonly mutated gene in PAH codes the bone morphogenic protein receptor 2 (BMPR2), a transmembrane receptor involved in cell-specific BMP signaling [4, 5]. In this study, we present the first comprehensive analysis of BMPR2 gene alterations in Polish patients diagnosed with IPAH." (...)
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    Landscape of mutational profiles in a Polish cohort of patients diagnosed with idiopathic pulmonary arterial hypertension
    (Via Medica, 2025-09-23) Borys, Agnieszka M.; Jonas, Kamil; Sochacka, Ewelina; Kołton-Wróż, Maria; Wołkow, Paweł; Wypasek, Ewa; Pelc, Ewa; Małecki, Maciej T.; Kopeć, Grzegorz; Totoń-Żurańska, Justyna
    Introduction: "Pulmonary arterial hypertension (PAH) is a rare vascular disorder, characterized by narrowing of the pulmonary arteries due to vasoconstriction and vascular remodeling [1–3]. The national registry reports a PAH incidence of 5.2 cases per million per year and a prevalence of 30.8 cases per million in Poland [4, 5]. While its etiology remains partly unclear, genetic factors have been implicated in certain patient groups [6–8]. However, the molecular background of this population has not been systematically studied. Therefore, we aimed to comprehensively characterize the genetic landscape of PAH in Polish patients." (...)