SOX17 Loss-of-Function Mutation Underlying Familial Pulmonary Arterial Hypertension
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چکیده
منابع مشابه
Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension.
Most patients with familial pulmonary arterial hypertension (FPAH) carry mutations in the bone morphogenic protein receptor 2 gene (BMPR2). Yet carriers have only a 20% risk of disease, suggesting that other factors influence penetrance. Thrombospondin-1 (TSP1) regulates activation of TGF-β and inhibits endothelial and smooth muscle cell proliferation, pathways coincidentally altered in pulmona...
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The purpose of this investigation was to assess the effect of captopril on both systemic (P.a) and pulmonary arterial pressures (PPA) in patients with high-altitude pulmonary hypertension (HAPH). Seventeen patients (mean age 44±6.8 years) with HAPH and mild to moderate systemic arterial hypertension were included in the study. All patients underwent right heart catheterization with measurem...
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BACKGROUND Elevated right atrial (RA) pressure is an established prognostic measure in pulmonary arterial hypertension (PAH). However, little is known about perturbations in RA function in PAH. METHODS AND RESULTS Reservoir (RA longitudinal strain [RA LS]), conduit (RA early LS rate), and active (RA late LS rate) phases were assessed by 2D speckle tracking in 65 patients with PAH, 6-minute wa...
متن کاملThe Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension
Pulmonary arterial hypertension (PAH) is an incurable disorder clinically characterised by a sustained elevation of mean arterial pressure in the absence of systemic involvement. As the adult circulation is a low pressure, low resistance system, PAH represents a reversal to a foetal state. The small pulmonary arteries of patients exhibit luminal occlusion resultant from the uncontrolled growth ...
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Studies have demonstrated that increased oxidative stress contributes to the pathogenesis and the development of pulmonary artery hypertension (PAH). Extracellular superoxide dismutase (SOD3) is essential for removing extracellular superoxide anions, and it is highly expressed in lung tissue. However, it is not clear whether endogenous SOD3 can influence the development of PAH. Here we examined...
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ژورنال
عنوان ژورنال: International Heart Journal
سال: 2021
ISSN: 1349-2365,1349-3299
DOI: 10.1536/ihj.20-711