2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: Developed by the task force for the diagnosis and treatment of pulmonary …

M Humbert, G Kovacs, MM Hoeper… - European heart …, 2022 - academic.oup.com
Pulmonary hypertension (PH) is a pathophysiological disorder that may involve multiple
clinical conditions and may be associated with a variety of cardiovascular and respiratory …

Molecular genetic framework underlying pulmonary arterial hypertension

L Southgate, RD Machado, S Gräf… - Nature Reviews …, 2020 - nature.com
Pulmonary arterial hypertension (PAH) is a rare, progressive disorder typified by occlusion
of the pulmonary arterioles owing to endothelial dysfunction and uncontrolled proliferation of …

[HTML][HTML] 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

M Humbert, G Kovacs, MM Hoeper… - European …, 2022 - publications.ersnet.org
2022 ESC/ERS pulmonary hypertension guidelines incorporate changes and adaptations
focusing on clinical management https://bit. ly/3QtUvb4

[HTML][HTML] Haemodynamic definitions and updated clinical classification of pulmonary hypertension

G Simonneau, D Montani… - European respiratory …, 2019 - Eur Respiratory Soc
Since the 1st World Symposium on Pulmonary Hypertension (WSPH) in 1973, pulmonary
hypertension (PH) has been arbitrarily defined as mean pulmonary arterial pressure …

Pathophysiology and pathogenic mechanisms of pulmonary hypertension: role of membrane receptors, ion channels, and Ca2+ signaling

A Balistrieri, A Makino, JXJ Yuan - Physiological reviews, 2023 - journals.physiology.org
The pulmonary circulation is a low-resistance, low-pressure, and high-compliance system
that allows the lungs to receive the entire cardiac output. Pulmonary arterial pressure is a …

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

N Zhu, MW Pauciulo, CL Welch, KA Lutz… - Genome medicine, 2019 - Springer
Background Group 1 pulmonary arterial hypertension (PAH) is a rare disease with high
mortality despite recent therapeutic advances. Pathogenic remodeling of pulmonary …

[HTML][HTML] Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in …

CA Eichstaedt, C Belge, WK Chung… - European …, 2023 - Eur Respiratory Soc
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely)
pathogenic germline genomic variants. In addition to the most prevalent disease gene …

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

A Bonnefond, M Boissel, A Bolze, E Durand… - Nature …, 2020 - nature.com
Genome-wide association studies have identified 240 independent loci associated with type
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …

Potassium channels in vascular smooth muscle: a pathophysiological and pharmacological perspective

MF Dogan, O Yildiz, SO Arslan… - Fundamental & clinical …, 2019 - Wiley Online Library
Potassium (K+) ion channel activity is an important determinant of vascular tone by
regulating cell membrane potential (MP). Activation of K+ channels leads to membrane …

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

N Zhu, EM Swietlik, CL Welch, MW Pauciulo… - Genome medicine, 2021 - Springer
Background Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized
by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary …