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ArticleNeurologia medico-chirurgica2025

Association between RNF213 p.R4810K and Progression of Cerebral Artery Negative Remodeling in Moyamoya Disease.

Haruto Uchino, Masaki Ito, Taku Sugiyama, Kota Kurisu, Noriyuki Fujima, Miki Fujimura

Abstract read
In one paragraph

Article in Neurologia medico-chirurgica, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Haruto UchinoDepartment of Neurosurgery, Hokkaido University Graduate School of Medicine.
Masaki ItoDepartment of Neurosurgery, Hokkaido University Graduate School of Medicine.
Taku SugiyamaDepartment of Neurosurgery, Hokkaido University Graduate School of Medicine.
Kota KurisuDepartment of Neurosurgery, Hokkaido University Graduate School of Medicine.
Noriyuki FujimaDepartment of Radiology, Hokkaido University Graduate School of Medicine.
Miki FujimuraDepartment of Neurosurgery, Hokkaido University Graduate School of Medicine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Negative remodeling, characterized by a decrease in the outer diameter of the terminal (C1) segment of the internal carotid artery and the proximal (M1) segment of the middle cerebral artery, is a hallmark of moyamoya disease. However, the role of the disease-susceptibility gene RNF213 in negative remodeling in moyamoya disease remains unclear. This study investigated the effect of RNF213 p.R4810K polymorphism on the degree of negative remodeling in moyamoya disease. We analyzed 70 hemispheres of 38 adult patients with moyamoya disease who underwent RNF213 p.R4810K gene analysis. Vascular outer diameters of the distal C1 and proximal M1 segments were measured using constructive interference in steady-state images obtained from 3-tesla magnetic resonance imaging. Suzuki stages were determined via cerebral angiography, and comparisons were made between RNF213-mutant and wild-type hemispheres. Among the analyzed hemispheres, 39 (56%) were RNF213-mutant, and 31 were wild-type. Suzuki stages were distributed as follows: 0 in 8 hemispheres, 1-2 in 15, 3-4 in 40, and 5-6 in 7. At stage 3-4, the C1 outer diameter was significantly smaller in RNF213-mutant hemispheres compared to wild-type (median 2.1 vs 2.6 mm, p < 0.05). A significant reduction in vascular outer diameters in the advanced disease stage was observed only in the mutant group between stages 0 and 3-4 (C1: median 3.0 vs 2.1 mm, p < 0.05; M1: median 2.2 vs 1.5 mm, p < 0.001). These findings suggest the association between RNF213 p.R4810K polymorphism and the progression of negative remodeling at the carotid fork in advanced disease stages of moyamoya disease.

Indexed as

Adenosine TriphosphatasesMoyamoya DiseaseUbiquitin-Protein LigasesVascular RemodelingAdultCerebral AngiographyDisease ProgressionFemaleHumansMaleMiddle AgedYoung AdultAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein Ligasesmoyamoya diseasenegative remodelingRNF213shrinkage

Identifiers

PMID40301050
PMCPMC12229745

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.