A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
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Insights into hominid evolution from the gorilla genome sequenceIdentification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.The Pathophysiology of Moyamoya Disease: An UpdateConsiderations When Subtyping Ischemic Stroke in Asian PatientsSingle Nucleotide Polymorphism in Patients with Moyamoya DiseaseMoyamoya BiomarkersMoyamoya Syndrome: A Window of Moyamoya DiseaseNeuromuscular regulation in zebrafish by a large AAA+ ATPase/ubiquitin ligase, mysterin/RNF213Role of Ring Finger Protein 213 in Moyamoya DiseaseA new horizon of moyamoya disease and associated health risks explored through RNF213Moyamoya disease and syndromes: from genetics to clinical managementMoyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric stateMoyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cellsBiochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In VivoRare variant discovery by deep whole-genome sequencing of 1,070 Japanese individualsArterial Tortuosity: An Imaging Biomarker of Childhood Stroke Pathogenesis?Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery diseaseGenetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility GeneFrequency and significance of rare RNF213 variants in patients with adult moyamoya diseaseSerum miRNA signature in Moyamoya disease.Cortical evolution: judge the brain by its cover.Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han populationGenetic stroke syndromesThe pathobiology of vascular malformations: insights from human and model organism genetics.Genome-wide association studies in neurology.Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.RNF213 rare variants in an ethnically diverse population with Moyamoya disease.Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?'Smoke in the air': a rare cerebrovascular cause of neurological signs and symptoms in a young adult.Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis.Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya DiseaseCellular Functions and Gene and Protein Expression Profiles in Endothelial Cells Derived from Moyamoya Disease-Specific iPS Cells.RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.Chemokine Ligand 5 (CCL5) Derived from Endothelial Colony-Forming Cells (ECFCs) Mediates Recruitment of Smooth Muscle Progenitor Cells (SPCs) toward Critical Vascular Locations in Moyamoya DiseaseRare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome SequencingP.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.Immune response profiling identifies autoantibodies specific to Moyamoya patients.Histopathological Characteristics of Distal Middle Cerebral Artery in Adult and Pediatric Patients with Moyamoya Disease.
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P2860
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
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2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@ast
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@en
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@nl
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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@ast
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@en
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@nl
prefLabel
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@ast
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@en
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
@nl
P2093
P2860
P356
P1476
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
@en
P2093
Akira Hata
Atsuo Kikuchi
Ayumi Narisawa
Fumiaki Kamada
Junko Kanno
Miki Fujimura
Shigeo Kure
Shigeru Tsuchiya
Shoko Komatsuzaki
P2860
P2888
P356
10.1038/JHG.2010.132
P577
2010-11-04T00:00:00Z