Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia‐induced pulmonary hypertension in mice

Abstract excerpt

Ring finger 213 ( RNF213) is a susceptibility gene for moyamoya disease (MMD), a progressive cerebrovascular disease. Recent studies suggest that RNF213 plays an important role not only in MMD, but also in extracranial vascular diseases, such as pulmonary hypertension (PH). In this study, we undertook genetic screening of RNF213 in patients with PH and performed functional analysis of an RNF213 variant using...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aortic Disease and Treatment Approaches
• Share to Moyamoya disease diagnosis and treatment
• Share to Pulmonary Hypertension Research and Treatments