The genetic basis of moyamoya disease

R Mertens, M Graupera, H Gerhardt, A Bersano… - Translational stroke …, 2022 - Springer
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive
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 …

Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

A Pinard, MDJ Fiander, AC Cecchi, AL Rideout… - Neurology, 2021 - AAN Enterprises
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 …

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 …

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 …

Genome-wide association study of intracranial artery stenosis followed by phenome-wide association study

S Dofuku, K Sonehara, S Miyawaki, S Sakaue… - Translational Stroke …, 2023 - Springer
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 …

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 …

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 …

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 …

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 …