Nonsyndromic peripheral pulmonary artery stenosis is associated with homozygosity of RNF213 p. Arg4810Lys regardless of co-occurrence of moyamoya disease
Background Peripheral pulmonary arterial stenosis (PPAS) in childhood is frequently
associated with other syndromes; however, PPAS in adolescents and adults is rare and its …
associated with other syndromes; however, PPAS in adolescents and adults is rare and its …
Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy
H Fukushima, T Takenouchi… - American Journal of …, 2016 - Wiley Online Library
Moyamoya disease is characterized by diffuse distal intracranial stenosis. Recently, RNF213
has been identified as a susceptibility gene in the development of this condition. Pulmonary …
has been identified as a susceptibility gene in the development of this condition. Pulmonary …
Poor outcomes in carriers of the RNF213 variant (p. Arg4810Lys) with pulmonary arterial hypertension
T Hiraide, M Kataoka, H Suzuki, Y Aimi, T Chiba… - The Journal of Heart and …, 2020 - Elsevier
BACKGROUND A variant of c. 14429G> A (p. Arg4810Lys, rs112735431) in the ring finger
protein 213 gene (RNF213; NM_001256071. 2) has been recently identified as a risk allele …
protein 213 gene (RNF213; NM_001256071. 2) has been recently identified as a risk allele …
The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis
M Kanezawa, H Shimokawahara… - European …, 2023 - Eur Respiratory Soc
Extract Peripheral pulmonary arterial stenosis (PPAS) is commonly observed in paediatric
patients with associated congenital heart disease or systemic congenital syndromes, such …
patients with associated congenital heart disease or systemic congenital syndromes, such …
Prospective screening of extracranial systemic arteriopathy in young adults with moyamoya disease
Background RNF213 is a major susceptibility gene for moyamoya disease (MMD),
characterized by chronic progressive steno‐occlusion of the intracranial arteries. However …
characterized by chronic progressive steno‐occlusion of the intracranial arteries. However …
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis
H Hongo, S Miyawaki, H Imai, M Shimizu, S Yagi… - Scientific reports, 2020 - nature.com
Intracranial artery stenosis (ICAS) is the most common cause of ischemic stroke worldwide.
RNF213 single nucleotide variant c. 14429G> A (p. Arg4810Lys, rs112735431) was recently …
RNF213 single nucleotide variant c. 14429G> A (p. Arg4810Lys, rs112735431) was recently …
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal
carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East …
carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East …
Moyamoya Disease and Spectrums of RNF213 Vasculopathy
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive
stenosis of large intracranial arteries and a hazy network of basal collaterals called …
stenosis of large intracranial arteries and a hazy network of basal collaterals called …
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy
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 …
disease (MMD) in children with unaffected relatives, we performed exome sequencing of 28 …
Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced …
H Kobayashi, R Kabata, H Kinoshita… - Pulmonary …, 2018 - journals.sagepub.com
Ring finger 213 (RNF213) is a susceptibility gene for moyamoya disease (MMD), a
progressive cerebrovascular disease. Recent studies suggest that RNF213 plays an …
progressive cerebrovascular disease. Recent studies suggest that RNF213 plays an …