Pulmonary arterial hypertension and CFTR: the paradox of going forward by tacking sideways!

T Kotsimbos, D Kaye, D Keating - European Respiratory …, 2021 - Eur Respiratory Soc
The understanding of pulmonary arterial hypertension (PAH) was turned on its head just
over 20 years ago with the recognition that there were families with a specific genetic …

Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the-Omics Era

RD Machado, L Southgate - Genes, 2021 - mdpi.com
Pulmonary arterial hypertension (PAH) is a highly heterogeneous disorder with a complex,
multifactorial aetiology. PAH is characterized by a sustained elevation of mean pulmonary …

Genetics and the molecular pathogenesis of pulmonary arterial hypertension

D Liu, NW Morrell - Current hypertension reports, 2013 - Springer
Mutations in the bone morphogenetic protein type II receptor (BMPR-II) gene (BMPR2) have
been recognized to cause heritable PAH (HPAH). Recent studies focused on novel BMPR2 …

Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

RR Viales, CA Eichstaedt, N Ehlken, C Fischer… - PLoS …, 2015 - journals.plos.org
Background Hereditary pulmonary arterial hypertension (HPAH) can be caused by
autosomal dominant inherited mutations of TGF-β genes, such as the bone morphogenetic …

Pulmonary arterial hypertension: insights from genetic studies

JE Loyd - Proceedings of the American Thoracic Society, 2011 - atsjournals.org
Familial pulmonary arterial hypertension (FPAH) was described 60 years ago, but real
progress in understanding its origins and pathogenesis is just beginning. Germline …

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

CA Eichstaedt, Z Saßmannshausen, M Shaukat… - Respiratory …, 2022 - Springer
Background A genetic predisposition can lead to the rare disease pulmonary arterial
hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable …

Idiopathic pulmonary hypertension: what did we learn from genes?

B Sztrymf, A Yaïci, X Jaïs, O Sitbon… - … Vasculitis, and Diffuse …, 2005 - europepmc.org
Pulmonary arterial hypertension (PAH) is an uncommon disorder. PAH can be idiopathic,
associated with other conditions or clustered in families. Indeed, at least 6% of individuals …

Genetics and mediators in pulmonary arterial hypertension

ED Austin, JE Loyd - Clinics in chest medicine, 2007 - Elsevier
Pulmonary arterial hypertension (PAH) is an uncommon disorder of the pulmonary
vasculature characterized by remodeling of the smallest pulmonary arteries, leading to a …

Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies

JH Newman, JA Phillips III, JE Loyd - Annals of internal medicine, 2008 - acpjournals.org
Pulmonary arterial hypertension (PAH) occurs as an idiopathic disease (formerly called
primary pulmonary hypertension) and as a consequence of other illnesses. These illnesses …

Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects

RD Machado, L Southgate, CA Eichstaedt… - Human …, 2015 - Wiley Online Library
Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several
causes including heterogeneous genetic defects. While mutations in the bone …