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 …
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 …
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) …
(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 …
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 …
chronic and progressive disorder characterised by angioproliferative vasculopathy in the …
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 …
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 …
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
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 …
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 …
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 …
undergone their training, performed investigations, and practiced without a thorough …