A5036192371- Crystallization and Solubility Studies
- X-ray Diffraction in Crystallography
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Perovskite Materials and Applications
- TiO2 Photocatalysis and Solar Cells
- Quantum Dots Synthesis And Properties
- Electronic and Structural Properties of Oxides
- RNA Research and Splicing
- Intracranial Aneurysms: Treatment and Complications
- Mosquito-borne diseases and control
- Silicon Nanostructures and Photoluminescence
- Ergonomics and Musculoskeletal Disorders
- ZnO doping and properties
- Metabolism and Genetic Disorders
- Topology Optimization in Engineering
- Neurogenetic and Muscular Disorders Research
- Copper-based nanomaterials and applications
- Solid-state spectroscopy and crystallography
- Semiconductor materials and devices
- Chalcogenide Semiconductor Thin Films
- Glycogen Storage Diseases and Myoclonus
Kagoshima University
2016-2025
Osaka University
1988-2023
Saiseikai Yahata General Hospital
1999-2022
University of Tsukuba
2002-2020
National Institute for Materials Science
2016-2020
Sumitomo Heavy Industries (Japan)
2018-2020
Hiroshima University
1995-2015
Baylor College of Medicine
2013-2015
Kyoto University
2008-2015
Takarazuka City Hospital
2015
The objective of this study was to further establish and confirm the relationship adipose mitochondrial biogenesis in diabetes/obesity effects rosiglitazone (RSG), a peroxisome proliferator-activated receptor (PPAR) gamma agonist, by systematically analyzing gene expression function two mouse models obesity type 2 diabetes. Using microarray technology, transcription studied db/db, high-fat diet-fed C57BL/6 (HFD) respective control mice with or without RSG treatment. findings were extended...
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼45% (17/37) families. Three candidate genes are proposed, supported by combination genetic vivo studies. Aggregate analysis mutation data revealed significantly increased number rare variants across...
Objective The objective of this study was to identify new causes Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT. Methods To efficiently novel causative genes for AR‐CMT, we analyzed 303 unrelated Japanese CMT using whole‐exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation screening the newly identified membrane metalloendopeptidase ( MME ) gene 354 additional clinically, genetically, pathologically,...
Objective To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT). Methods From May 2012 to August 2016, we collected 1005 cases suspected CMT throughout Japan, whereas PMP22 duplication/deletion were excluded advance for demyelinating cases. We performed next-generation sequencing targeting CMT-related gene panels using Illumina MiSeq or Ion Proton, then analysed gene-specific onset age identified and geographical differences terms their...
Abstract Background and Objectives The GAA repeat expansion within the fibroblast growth factor 14 ( FGF14 ) gene has been found to be associated with late‐onset cerebellar ataxia. This study aimed investigate genetic causes of ataxia in patients Japan. Methods We collected a case series 940 index who presented chronic remained genetically undiagnosed after our preliminary screening. To locus, we employed an integrated diagnostic strategy that involved fluorescence amplicon length analysis...
The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions.
<h3>Objective:</h3> To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as variant Charcot-Marie-Tooth disease (CMT), in Chinese family. <h3>Methods:</h3> We investigated family with dHMN clinically, electrophysiologically, and genetically. screened for the mutations 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip. <h3>Results:</h3> Investigation history revealed autosomal dominant transmission...
We report on the effect of BaTiO3/TiO2 mesoporous double layer (MDL) in electron transport (ETL) perovskite solar cells and enhancement photovoltaic performance. The conversion efficiency was enhanced from 9.89% for TiO2 single (MSL) to 12.4% MDL. CH3NH3PbI3 crystal size MDL larger. larger crystals resulted better light absorption improved JSC. Moreover, VOC also by suppressing a charge recombination, which is attributable fewer boundaries band structure results suggest that using BaTiO3 as...
Dengue virus infections are a major cause of morbidity and mortality in tropical subtropical areas the world. We analyzed dengue virus-specific CD8+ CD4- CTL at clonal level to further understand role infections. clones were established from lymphocytes 4-immune adult. Three patterns serotype specificities identified: 1) specific for 4, 2) cross-reactive 2 4 (subcomplex-specific); 3) all four serotypes. 4-specific one 2/dengue clone analyzed. All HLA-B35 restricted recognized NS3. The...
Phase-pure perovskite-type SrTiO3, CaTiO3 and BaTiO3 electrodes have been applied for dye-sensitized solar cells, to obtain higher VOC than TiO2 electrode. Furthermore, TiO2/SrTiO3 TiO2/BaTiO3 composite also prepared. powders synthesized by solid-state reaction method at 1200°C 2 h were used prepare the cells. SrTiO3 cells showed that from TiO2, but lower JSC efficiency. To utilize positive effect increase VOC, P25 DSC For each series, ~30 wt % addition was favorable photo-electric conversion
We have previously shown that oral administration of curcumin significantly decreases the percentage apoptotic Schwann cells and partially mitigates severe neuropathy phenotype Trembler-J (Tr-J) mouse model in a dose-dependent manner. Here we compared gene expression sciatic nerves 2-week-old pups adult Tr-J with same age groups wild-type mice found significant increase for hypoxia, inflammatory response heat-shock proteins, latter specifically Hsp70 family, mice. also detected an activation...
Several genes related to mitochondrial functions have been identified as causative of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may a role in assembling respiratory chain complexes that function oxidative phosphorylation. Here we four unrelated patients with recessive mutations COA7 among Japanese case series 1396 Charcot-Marie-Tooth disease (CMT) other inherited peripheral neuropathies, including complex forms CMT. We also found all had characteristic neurological...
The effects on the electrical properties of Si doping into Cu2O thin films deposited by reactive sputtering were studied. hole density increased from 1×1015 to 1×1017 cm−3 with increasing content and minimum resistivity obtained was 12 Ω cm. It suggested that electrically active acceptor an activation energy 0.19 eV generated doping. Infrared absorption measurements indicated formation silicate in Si-doped Cu2O. mechanism for acting as is discussed modeled based
Polycrystalline n-ZnO/p-Cu2O heterojunctions were fabricated by reactive sputtering for photovoltaic applications. Although electrical rectification was not reproducibly obtained in the as-grown samples, observed samples with cyanide treated Cu2O. We have previously shown that treatment has an effective role passivation of defects Cu2O, analogy to hydrogen passivation. It is, therefore, believed improvement ZnO/Cu2O is attributable defect near hetero-interface. The effectiveness and...
Background and purpose The microrchidia family CW ‐type zinc finger 2 gene ( MORC ) was newly identified as a causative of Charcot–Marie–Tooth disease CMT type 2Z in 2016. We aimed to describe the clinical mutational spectrum patients with harboring mutations Japan. Methods analyzed samples from 781 unrelated clinically diagnosed using deoxyribonucleic acid microarray or targeted resequencing by next‐generation sequencing, 434 mutation‐negative were subjected whole‐exome sequencing....
Background NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few -related studies in IPN reported, the clinical genetic spectra remain unclear. Thus, this study aimed to describe manifestations of IPNs. Method Among 2692 Japanese patients clinically diagnosed IPN/Charcot–Marie–Tooth (CMT), we analysed expansion 1783 unrelated without...
The role of flavivirus-cross-reactive T lymphocytes in recovery from and pathogenesis flavivirus infections is not known. In the present paper, we have defined a epitope recognized by two CD4+ CD8− cytotoxic lymphocyte (CTL) clones, JK4 JK43. cell clones were established peripheral blood dengue-4-immune donor, using limiting-dilution method with dengue-4 antigen. These cross-reactive for dengue virus types 1, 2, 3 4, yellow fever West Nile virus, NS3 protein. smallest synthetic peptide these...