A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. - Wikidata - wikimedia - TriplyDB

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

http://www.wikidata.org/entity/Q34147943

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Insights into hominid evolution from the gorilla genome sequence Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.The Pathophysiology of Moyamoya Disease: An Update Considerations When Subtyping Ischemic Stroke in Asian Patients Single Nucleotide Polymorphism in Patients with Moyamoya Disease Moyamoya Biomarkers Moyamoya Syndrome: A Window of Moyamoya Disease Neuromuscular regulation in zebrafish by a large AAA+ ATPase/ubiquitin ligase, mysterin/RNF213 Role of Ring Finger Protein 213 in Moyamoya Disease A new horizon of moyamoya disease and associated health risks explored through RNF213 Moyamoya disease and syndromes: from genetics to clinical management Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals Arterial Tortuosity: An Imaging Biomarker of Childhood Stroke Pathogenesis?Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease Serum 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 population Genetic stroke syndromes The 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 Disease Cellular 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 Disease Rare 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 Sequencing P.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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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

http://www.wikidata.org/entity/Q34147943

description

2010 nî lūn-bûn

@nan

2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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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

type

label

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

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P1433

Journal of Human Genetics

P1476

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

@en

P2093

Akira Hata

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Atsuo Kikuchi

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Ayumi Narisawa

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Fumiaki Kamada

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Junko Kanno

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Masao Ono

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Miki Fujimura

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Shigeo Kure

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Shigeru Tsuchiya

http://www.w3.org/2001/XMLSchema#string

Shoko Komatsuzaki

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P2860

Moyamoya disease and moyamoya syndrome.

A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians

Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey.

Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

Prevalence and clinicoepidemiological features of moyamoya disease in Japan: findings from a nationwide epidemiological survey.

Vascular repair by endothelial progenitor cells.

Pathophysiology and genetic factors in moyamoya disease.

Systemic vascular changes in spontaneous occlusion of the circle of Willis.

Autosomal dominant moyamoya disease maps to chromosome 17q25.3.

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34-40

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10.1038/JHG.2010.132

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1

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56

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21048783

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P921

genome-wide association study