Background The genetic architecture of coronary artery disease has not been fully
elucidated, especially in Asian countries. Moyamoya disease is a progressive …

Objective To test the hypothesis that de novo genetic variants are responsible for moyamoya
disease (MMD) in children with unaffected relatives, we performed exome sequencing of 28 …

Background: Moyamoya angiopathy (MMA), which includes moyamoya disease (MMD) and
moyamoya syndrome (MMS), is an uncommon cerebrovascular condition characterized by …

Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive
occlusion of the internal carotid arteries. Genetic studies originally identified RNF213 as an …

Intracranial aneurysms (IAs) are the result of focal weakness in the artery wall and have a
complex genetic makeup. To date, genome-wide association and sequencing studies have …

Background A founder variant of RNF 213, p. R4810K (c. 14429G> A, rs112735431), was
recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan …

Background Peripheral pulmonary arterial stenosis (PPAS) in childhood is frequently
associated with other syndromes; however, PPAS in adolescents and adults is rare and its …

Abstract Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive
arteriopathy that represents a leading cause of transient ischemic attacks and strokes in …

Background Both intracranial atherosclerotic stenosis (ICAS) and moyamoya disease
(MMD) are prevalent in Asians. We hypothesized that the Ring Finger protein 213 gene …

The ring finger protein 213 gene (RNF213) encodes a 590 kDa protein that is thought to be
involved in angiogenesis. This gene was first recognized as a vasculopathy-susceptibility …