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Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.A new horizon of moyamoya disease and associated health risks explored through RNF213Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In VivoInfantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese FamiliesWhole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery diseaseA rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among CaucasiansThe mechanisms of oxidative DNA damage and apoptosis induced by norsalsolinol, an endogenous tetrahydroisoquinoline derivative associated with Parkinson's disease.Biological Monitoring of Human Exposure to Neonicotinoids Using Urine Samples, and Neonicotinoid Excretion Kinetics.Preliminary assessment of ecological exposure of adult residents in Fukushima Prefecture to radioactive cesium through ingestion and inhalationRNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.Genetic study of intracranial aneurysms.RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease.Damage to cellular and isolated DNA induced by a metabolite of aspirin.Mechanism of metal-mediated DNA damage and apoptosis induced by 6-hydroxydopamine in neuroblastoma SH-SY5Y cells.Mechanism of DNA damage and apoptosis induced by tetrahydropapaveroline, a metabolite of dopamine.Perfluorinated carboxylic acids discharged from the Yodo River Basin, Japan.Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia.Metal-mediated oxidative damage to cellular and isolated DNA by gallic acid, a metabolite of antioxidant propyl gallate.Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.Suppressed phosphorylation of collapsin response mediator protein-2 in the hippocampus of HCNP precursor transgenic mice.Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.Temporal trend and age-dependent serum concentration of phenolic organohalogen contaminants in Japanese men during 1989-2010.Proteomic analysis of carbonylated proteins in the monkey substantia nigra after ischemia-reperfusion.β-cell-specific overexpression of adiponectin receptor 1 does not improve diabetes mellitus in Akita mice.Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan).RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease.Dysregulation of RNF213 promotes cerebral hypoperfusion.Genomewide association study identifies no major founder variant in Caucasian moyamoya disease.Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.Familial episodic limb pain in kindreds with novel Nav1.9 mutationsNitrative DNA damage and Oct3/4 expression in urinary bladder cancer with Schistosoma haematobium infectionRapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variantImportance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiencyThe moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Hatasu Kobayashi
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Hatasu Kobayashi
@en
Hatasu Kobayashi
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Hatasu Kobayashi
@nl
Hatasu Kobayashi
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小林果
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type
label
Hatasu Kobayashi
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Hatasu Kobayashi
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Hatasu Kobayashi
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Hatasu Kobayashi
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Hatasu Kobayashi
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小林果
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prefLabel
Hatasu Kobayashi
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Hatasu Kobayashi
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Hatasu Kobayashi
@es
Hatasu Kobayashi
@nl
Hatasu Kobayashi
@sl
小林果
@ja
P106
P108
P1153
7405506998
P31
P496
0000-0002-5664-6869
P569
2000-01-01T00:00:00Z