Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

[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 …

BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

JDW Evans, B Girerd, D Montani, XJ Wang… - The lancet Respiratory …, 2016 - thelancet.com
Background Mutations in the gene encoding the bone morphogenetic protein receptor type II
(BMPR2) are the commonest genetic cause of pulmonary arterial hypertension (PAH) …

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Pulmonary arterial hypertension: pathophysiology and treatment

NSH Lan, BD Massam, SS Kulkarni, CC Lang - Diseases, 2018 - mdpi.com
Pulmonary arterial hypertension (PAH), the first category of pulmonary hypertension, is a
chronic and progressive disorder characterised by angioproliferative vasculopathy in the …

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 …

BMPR2 acts as a gatekeeper to protect endothelial cells from increased TGFβ responses and altered cell mechanics

C Hiepen, J Jatzlau, S Hildebrandt, B Kampfrath… - PLoS …, 2019 - journals.plos.org
Balanced transforming growth factor-beta (TGFβ)/bone morphogenetic protein (BMP)-
signaling is essential for tissue formation and homeostasis. While gain in TGFβ signaling is …

New molecular targets of pulmonary vascular remodeling in pulmonary arterial hypertension: importance of endothelial communication

C Guignabert, L Tu, B Girerd, N Ricard, A Huertas… - Chest, 2015 - Elsevier
Pulmonary arterial hypertension (PAH) is a disorder in which mechanical obstruction of the
pulmonary vascular bed is largely responsible for the rise in mean pulmonary arterial …

The genetics of pulmonary arterial hypertension

ED Austin, JE Loyd - Circulation research, 2014 - Am Heart Assoc
Pulmonary arterial hypertension (PAH) is a progressive and fatal disease for which there is
an ever-expanding body of genetic and related pathophysiological information on disease …

Pathology of pulmonary hypertension

RM Tuder, E Stacher, J Robinson… - Clinics in chest …, 2013 - chestmed.theclinics.com
The last 2 generations of physicians and researchers in pulmonary hypertension (PH) have
undergone their training, performed investigations, and practiced without a thorough …