A5093836133- Vascular Anomalies and Treatments
- Pulmonary Hypertension Research and Treatments
- Vascular Malformations and Hemangiomas
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- TGF-β signaling in diseases
- Connective Tissue Growth Factor Research
Physiogenex (France)
2024
Hereditary hemorrhagic telangiectsia (HHT) is an inherited vascular disorder with highly variable expressivity, affecting up to 1 in 5,000 individuals. This disease characterized by small arteriovenous malformations (AVMs) mucocutaneous areas (telangiectases) and larger visceral AVMs the lungs, liver, brain. HHT caused loss-of-function mutations BMP9-10/ENG/ALK1/SMAD4 signaling pathway. Review presents up-to-date insights on this mutated pathway its crosstalk proangiogenic pathways,...
Abstract Heterozygous activin receptor-like kinase 1 ( ALK1 ) mutations are associated with two vascular diseases: hereditary hemorrhagic telangiectasia (HHT) and more rarely pulmonary arterial hypertension (PAH). Here, we aimed to understand the impact of on BMP9 BMP10 transcriptomic responses in endothelial cells. Endothelial colony-forming cells (ECFCs) microvascular (HMVECs) carrying loss function were isolated from newborn HHT adult PAH donors, respectively. RNA-sequencing was performed...
Abstract Background BMP9 and BMP10 are two major regulators of vascular homeostasis. These ligands bind with high affinity to the endothelial type I kinase receptor ALK1, together a II receptor, leading direct phosphorylation SMAD transcription factors. Apart from this canonical pathway, little is known. Interestingly, mutations in signaling pathway have been identified rare cardiovascular diseases, hereditary hemorrhagic telangiectasia pulmonary arterial hypertension. Methods To get an...