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 …
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 …
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 …
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 …
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 …
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 …
hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable …
Idiopathic pulmonary hypertension: what did we learn from genes?
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 …
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 …
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 …
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
Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several
causes including heterogeneous genetic defects. While mutations in the bone …
causes including heterogeneous genetic defects. While mutations in the bone …