A5019706377- Moyamoya disease diagnosis and treatment
- Cerebrovascular and genetic disorders
- Neurological Complications and Syndromes
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Biochemical effects in animals
- Toxic Organic Pollutants Impact
- Ion channel regulation and function
- Nuclear Receptors and Signaling
- Cancer-related molecular mechanisms research
- Carcinogens and Genotoxicity Assessment
- Liver Disease Diagnosis and Treatment
- DNA Repair Mechanisms
- Cerebrovascular and Carotid Artery Diseases
- Diet, Metabolism, and Disease
- RNA modifications and cancer
- Endoplasmic Reticulum Stress and Disease
- Per- and polyfluoroalkyl substances research
- Neuroscience and Neuropharmacology Research
- Hereditary Neurological Disorders
- Intracranial Aneurysms: Treatment and Complications
- Ubiquitin and proteasome pathways
- Aortic Disease and Treatment Approaches
- Cancer-related gene regulation
Mie University
2010-2025
Kyoto University
2013-2023
Kanazawa University
2023
Tsu City College
2020
Chubu University
2018-2019
Obayashi (Japan)
2018
Takayama Red Cross Hospital
2015
Central South University
2015
Kitano Hospital
2013
Kobe City Medical Center General Hospital
2013
Background Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the gene unknown. Methodology/Principal Findings Genome-wide linkage analysis eight three-generation families with moyamoya revealed (P<10-4). Fine mapping demonstrated a 1.5-Mb bounded by D17S1806 and rs2280147. We conducted exome index cases these results filtered through Ng criteria. There was variant p.N321S PCMTD1 p.R4810K...
Background Neonicotinoids, which are novel pesticides, have entered into usage around the world because they selectively toxic to arthropods and relatively non-toxic vertebrates. It has been suggested that several neonicotinoids cause neurodevelopmental toxicity in mammals. The aim was establish relationship between oral intake urinary excretion of by humans facilitate biological monitoring, estimate dietary neonicotinoid intakes Japanese adults. Methodology/Principal Findings...
Background P.R4810K of RNF 213 (mysterin: rs112735431), which is an AAA + ATP ase, the susceptibility polymorphism for moyamoya disease ( MMD ) in East Asians. However, role R4810K etiology unknown. Methods and Results To clarify known angiogenic pathways, expression was analyzed endothelial cells EC s) treated with several antiangiogenic factors, including interferons IFN s). upregulated by ‐β through signal transducer activator transcription x promoter mediated activity ‐β. wild‐type WT...
Previous investigations on chronic kidney disease of unknown etiology characterized by tubulointerstitial damages (CKDu) in the North Central Region (NCR) Sri Lanka have supported involvement social, environmental and genetic factors its pathogenesis.We conducted a social-environmental-and-genetic epidemiology study male population NCR to investigate contributors. We recruited 311 case-series patients 504 control candidates. Of candidates, 218 (43%) were eliminated because presence...
Moyamoya disease is an idiopathic vascular disorder of the intracranial arteries. Ring finger 213 (RNF213) was previously identified as strongest susceptibility gene for moyamoya in East Asian people by a genome-wide linkage analysis and exome analysis. The coding variant p.R4810K RNF213 strongly associated with Japanese (odds ratio: 338.94, p = 1.05 × 10−100) Korean 135.63, 7.59 10−27) populations, much less Chinese population 14.70, 2.63 10−5). present study investigated distribution 2,508...
To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by hexanucleotide GGCCTG repeat expansion in intron 1 NOP56 gene.We investigated clinical, genetic, and neuropathologic characteristics 18 patients with SCA36. We performed histologic evaluation muscle biopsy specimen from patient SCA36, an autopsied brain another SCA36.The (GGCCTG)n was found ataxic 9 families. The age at onset 53.1 ± 3.4 years, most frequent...
Background The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya is a progressive cerebrovascular that reported to be complicated by disease. Because most Japanese patients with moyamoya carry the p.R4810K variant ring finger 213 gene (RNF213), this may also risk factor for disease; however, possibility never tested. Methods and results We genotyped RNF213 956 716 controls tested association between validated an independent...
Bradyarrhythmia is a common clinical manifestation. Although the majority of cases are acquired, genetic analysis families with bradyarrhythmia has identified growing number causative gene mutations. Because only ultimate treatment for symptomatic been invasive surgical implantation pacemaker, discovery novel therapeutic molecular targets necessary to improve prognosis and quality life.We investigated family containing 7 individuals autosomal dominant bradyarrhythmias sinus node dysfunction,...
Abstract Alzheimer’s disease (AD), a chronic neurodegenerative disorder, is the leading cause of dementia. Over-activated microglia related to amyloid-beta (Aβ) and phosphorylated tau (phospho-tau) accumulation in AD brain. Taurine an amino acid with multiple physiological functions including anti-inflammatory effects, has been reported be neuroprotective AD. However, role taurine microglia-mediated remains unclear. Here, we examined effects on brains senescence-accelerated mouse prone 8...
This study aims to estimate the ecological exposure of adult residents Fukushima Prefecture ¹³⁴cesium (Cs) and ¹³⁷Cs through ingestion inhalation between July 2 8, 2011.Fifty-five sets meals with tap water, each representing one person's daily intake, were purchased in local towns Prefecture. Locally produced cow's milk (21 samples) vegetables (43 also purchased. In parallel, air sampling was conducted at 12 different sites using a high-volume sampler. Nineteen control collected Kyoto 2011....
Moyamoya disease—an idiopathic vascular disorder of intracranial arteries—is often accompanied by hypertension. RNF213 has been identified as a susceptibility gene for moyamoya disease. In the present study, association p.R4810K (G>A) with blood pressure (BP) was investigated in Japanese population. Three independent study populations, Nyukawa (n = 984), Noshiro 2,443) and Field 881) studies, joined this study. BP, body weight height were measured. Past symptoms disease medication histories...
Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a subtype, established as genetic influence for certain pain syndromes. In this study, we performed study six unrelated multigenerational Japanese families episodic syndrome. Affected participants (n = 23) were characterized by infantile recurrent episodes spontaneous mitigation around adolescence. This unique phenotype was inherited an autosomal-dominant...
Background and Purpose- The ring finger protein 213 gene ( RNF213) is a susceptibility for moyamoya disease large-artery ischemic stroke in East Asia. We examined the prevalence correlates of RNF213 p.R4810K variant patients with early-onset Japanese single-center cohort. Methods- analyzed 70 intracranial arterial stenosis who developed noncardioembolic or transient attack from 20 to 60 years age. Patients were excluded. Results- was found 17 (24%), more often women than men (38% versus 16%,...
Moyamoya disease (MMD) is a cerebrovascular characterized by progressive occlusion of the internal carotid arteries. Genetic studies originally identified RNF213 as an MMD susceptibility gene that encodes large 591 kDa protein with functional RING domain and dual AAA+ ATPase domains. As functions its relationship to onset are unknown, we set out characterize ubiquitin ligase activity RNF213, effects patient mutations on these activities other cellular processes. In vitro ubiquitination...
The transferrin receptor (TfR) encoded by TFRC gene is the main cellular iron importer. TfR highly expressed in many cancers and expected to be a promising new target for cancer therapy; however, its role nasopharyngeal carcinoma (NPC) remains unknown.The levels were investigated NPC tissues cell lines using immunohistochemistry reverse transcription-quantitative polymerase chain reaction. Knockdown of two siRNA investigate effects on intracellular level biological functions, including...