The genetic basis of moyamoya disease
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive
spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their …
spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their …
Moyamoya disease emerging as an immune-related angiopathy
C Asselman, D Hemelsoet, D Eggermont… - Trends in Molecular …, 2022 - cell.com
Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown etiology. MMD
is characterized by progressive narrowing of arteries of the brain and the formation of a …
is characterized by progressive narrowing of arteries of the brain and the formation of a …
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 …
Association of genetic variants with moyamoya disease in 13 000 individuals: a meta-analysis
X Wang, Y Wang, F Nie, Q Li, K Zhang, M Liu, L Yang… - Stroke, 2020 - Am Heart Assoc
Background and Purpose—A growing body of evidence indicates genetic components play
critical roles in moyamoya disease (MMD). Firm conclusions from studies of this disease …
critical roles in moyamoya disease (MMD). Firm conclusions from studies of this disease …
RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies
T Hiraide, H Suzuki, M Momoi, Y Shinya, K Fukuda… - Life, 2022 - mdpi.com
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 …
involved in angiogenesis. This gene was first recognized as a vasculopathy-susceptibility …
Genome-wide association study of intracranial artery stenosis followed by phenome-wide association study
The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic
stroke, remains elusive. We performed the world's first genome-wide association study …
stroke, remains elusive. We performed the world's first genome-wide association study …
Endothelial progenitor cell-derived exosomes inhibit pulmonary artery smooth muscle cell in vitro proliferation and resistance to apoptosis by modulating the Mitofusin …
P Liu, S Gao, Z Li, S Pan, G Luo, Z Ji - European Journal of Pharmacology, 2023 - Elsevier
Pulmonary arterial hypertension (PAH) mainly occurs as a result of abnormal proliferation
and apoptosis resistance of pulmonary artery smooth muscle cells (PASMCs). Endothelial …
and apoptosis resistance of pulmonary artery smooth muscle cells (PASMCs). Endothelial …
Triple oral combination therapy with macitentan, riociguat, and selexipag for pulmonary arterial hypertension
M Momoi, T Hiraide, Y Shinya… - Therapeutic …, 2021 - journals.sagepub.com
Background: The evidence regarding triple oral combination therapy for patients with
pulmonary arterial hypertension (PAH) is scarce. This study was performed to investigate the …
pulmonary arterial hypertension (PAH) is scarce. This study was performed to investigate the …
RNF213 in moyamoya disease: Genotype–phenotype association and the underlying mechanism
J Fang, X Yang, J Ni - Chinese Medical Journal, 2024 - journals.lww.com
Moyamoya disease (MMD) is a cerebrovascular disorder characterized by a steno-occlusive
internal carotid artery and compensatory vascular network formation. Although the precise …
internal carotid artery and compensatory vascular network formation. Although the precise …
Moyamoya Vasculopathy and Moyamoya-Related Systemic Vasculopathy: A Review With Histopathological and Genetic Viewpoints
T Abumiya, M Fujimura - Stroke, 2024 - Am Heart Assoc
Systemic vasculopathy has occasionally been reported in cases of moyamoya disease
(MMD). Since the pathological relationship between moyamoya vasculopathy (MMV) and …
(MMD). Since the pathological relationship between moyamoya vasculopathy (MMV) and …