Hiroshi Matsumoto

ORCID: 0000-0002-0166-3469
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About
Contact & Profiles
Research Areas
  • Advancements in Photolithography Techniques
  • Integrated Circuits and Semiconductor Failure Analysis
  • Advanced Surface Polishing Techniques
  • Ionosphere and magnetosphere dynamics
  • Carcinogens and Genotoxicity Assessment
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Infectious Encephalopathies and Encephalitis
  • Cytomegalovirus and herpesvirus research
  • Particle Accelerators and Free-Electron Lasers
  • Electron and X-Ray Spectroscopy Techniques
  • Solar and Space Plasma Dynamics
  • Genomics and Rare Diseases
  • Bacterial Infections and Vaccines
  • Superconducting Materials and Applications
  • Particle accelerators and beam dynamics
  • Metabolism and Genetic Disorders
  • Semiconductor materials and devices
  • Plasma Diagnostics and Applications
  • Craniofacial Disorders and Treatments
  • Computational Drug Discovery Methods
  • Mitochondrial Function and Pathology
  • Chromosomal and Genetic Variations
  • Earthquake Detection and Analysis
  • Carbohydrate Chemistry and Synthesis

J-Power (Japan)
2024

Japan Proton Accelerator Research Complex
2021-2024

High Energy Accelerator Research Organization
2024

National Defense Medical College
2010-2023

Saitama Cancer Center
2015-2023

National Cancer Center Hospital East
2018

Daikin (United States)
2018

Chemicals Evaluation and Research Institute
2009-2017

Sylvester Comprehensive Cancer Center
2017

University of Miami
2017

Abstract Cancer‐prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly, childhood cancer, all chromosomes, and mosaicism for various trisomies monosomies. Biallelic BUB1B mutations were recently reported in five eight families MVA (probably identical to the PCS syndrome). We here describe molecular analysis (encoding BubR1) seven Japanese syndrome....

10.1002/ajmg.a.31069 article EN American Journal of Medical Genetics Part A 2006-01-12

Abstract Epilepsy of infancy with migrating focal seizures (EIMFS) is one the early-onset epileptic syndromes characterized by polymorphous seizures. Whole exome sequencing (WES) in ten sporadic and familial case EIMFS revealed compound heterozygous SLC12A5 (encoding neuronal K + -Cl − co-transporter KCC2) mutations two families: c.279 1G > C causing skipping exon 3 transcript (p.E50_Q93del) c.572 >T (p.A191V) individuals 1 2, c.967T (p.S323P) c.1243 A G (p.M415V) individual 3. Another...

10.1038/srep30072 article EN cc-by Scientific Reports 2016-07-20

Abstract Although there are many known Mendelian genes linked to epileptic or developmental and encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique an individual significantly overrepresented in EE/DEE, both the other non-EE/DEE genes. Importantly, enrichment dURVs significant, even subset with diagnostic ( P =...

10.1038/s41467-019-10482-9 article EN cc-by Nature Communications 2019-06-07

c-Jun-amino-terminal kinase-interacting protein 3 (JIP3), encoded by MAPK8IP3, is an adaptor of the kinesin-1 complex and essential for axonal transport in neurons. However, association between MAPK8IP3 variants human disease has not been established. We identified 5 individuals from four families with recurrent de novo c.1732C>T (p.Arg578Cys) c.3436C>T (p.Arg1146Cys) MAPK8IP3. The core phenotype includes spastic diplegia, intellectual disability, cerebral atrophy, corpus callosum...

10.1002/ana.25481 article EN Annals of Neurology 2019-04-04

Prodrug-activator gene therapy with Toca 511, a tumor-selective retroviral replicating vector (RRV) encoding yeast cytosine deaminase, is being evaluated in recurrent high-grade glioma patients. Nonlytic infection leads to permanent integration of RRV into the cancer cell genome, converting infected and progeny stable producer cells, enabling ongoing transduction viral persistence within tumors. Cytosine deaminase tumor cells converts antifungal prodrug 5-fluorocytosine anticancer drug...

10.1093/neuonc/nox038 article EN cc-by-nc Neuro-Oncology 2017-03-02

In Japan, the social (medical) health‐care system is on way to being developed advance personalized medicine through implementation of cancer genomic medicine, known as “cancer clinical sequencing,” which uses a next‐generation sequencer. However, no Japanese guidance for testing exists. Gene panel can be carried out help determine patient treatment, confirm diagnosis, and evaluate prognostic predictions patients with mainly solid cancers whom standard treatment available. This describes how...

10.1111/cas.13730 article EN cc-by-nc-nd Cancer Science 2018-09-01

Membrane-associated estrogen receptor "G protein-coupled 30" (GPR30) has been implicated in spatial recognition memory and protection against neuronal death. The present study investigated the role of GPR30 object an Alzheimer's disease (AD) mouse model (5XFAD) by using novel (NOR) test. Impairment long-term (24 h) was observed both male female 5XFAD mice. Selective agonist, G-1, ameliorated this impairment mice, but not Our demonstrated ameliorative NOR impaired AD pathology

10.1016/j.jphs.2016.06.005 article EN cc-by-nc-nd Journal of Pharmacological Sciences 2016-07-01

Abstract In this paper, development of NuFlare Technology’s multi-beam (MB) mask writing system MBM-2000 series is reviewed, and future plans for the MBM are discussed. The MB systems were designed on basis unique concepts suitable high-volume production leading-edge masks, i.e. high beam current density, a reliable blanking aperture array (BAA) with 50 keV single-stage acceleration optics, high-speed inline pixel-level dose correction, distinctive hardware charging effect reduction. latest...

10.35848/1347-4065/acb65d article EN Japanese Journal of Applied Physics 2023-01-26

523 Background: The possibility of primary tumor resection (PTR) improving the survival de-novo Stage IV breast cancer (dn-StIV BC) patients has been evaluated by several prospective studies but remains controversial. We designed this phase 3 trial (JCOG1017) comparing with/without dissection after initial systemic therapy based on clinical subtype in dn-StIV BC patients. Methods: Dn-StIV were enrolled first registration. All received therapies according to subtypes. not showing refractory...

10.1200/jco.2023.41.16_suppl.523 article EN Journal of Clinical Oncology 2023-06-01

By whole exome sequencing, we identified three de novo RHOBTB2 variants in patients with epileptic encephalopathies (EEs). Interestingly, all showed acute encephalopathy (febrile status epilepticus), magnetic resonance imaging revealing hemisphere swelling or reduced diffusion various brain regions. encodes Rho-related BTB domain-containing protein 2, an atypical Rho GTPase that is a substrate-specific adaptor itself substrate for the Cullin-3 (CUL3)-based ubiquitin ligase complex. Transient...

10.1002/humu.23550 article EN Human Mutation 2018-05-16

NuFlare has started development of multi-beam mask writer MBM-1000 aiming to apply N5 and release in Q4 2017. is based on large area projection optics with shaping aperture array plate, blanking (BAA) single cathode inline/realtime data path for vector rasterization bitmap dose correction. It designed accomplish higher throughput than EBM series (variable shaped beam (VSB) writers) massive array, resolution by using 10-nm size 10-bit control, better writing accuracy more write passes....

10.1117/12.2245177 article EN Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE 2016-05-10

Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity specificity, reproducibility, precision. However, operational optimization of such for a better performance has not fully addressed. ES 1199 samples including 763 patients with different disease profiles was performed. were analyzed CNVs by both the eXome Hidden Markov Model (XHMM) modified Nord's method. To efficiently rare CNVs, we aimed decrease...

10.1002/humu.24129 article EN Human Mutation 2020-11-01

Most of the BEN wave forms observed by GEOTAIL in Plasma Sheet Boundary Layer (PSBL) appear as a series isolated spiky pulses which are termed “Electrostatic Solitary Waves (ESW).” Comparison between observations and plasma measurements shows that uppermost frequency ESW is closely related to temperature flowing ions PSBL. We also find spike width inter‐pulse time‐span change very rapidly on time scales ranging from few milliseconds hundreds milliseconds, suggesting speed potential changes rapidly.

10.1029/94gl02111 article EN Geophysical Research Letters 1994-12-15

This study aimed at discriminating carcinogens on the basis of hepatic transcript profiling in rats administrated with a variety and non-carcinogens. We conducted 28-day toxicity tests male F344 47 26 non-carcinogens, then investigated periodically gene expression profiles using custom microarrays. By hierarchical cluster analysis based significantly altered genes, were clustered into three major groups (Group 1 to 3). The formation these was not affected by sets used as well administration...

10.4137/cin.s3229 article EN cc-by-nc Cancer Informatics 2009-01-01

10.1016/s0921-4526(09)80178-6 article EN Physica B Condensed Matter 1990-08-01

Expression of matrix metalloproteinases (MMPs) plays an essential role in tumor metastasis and invasion through the degradation extracellular (ECM). MT1‐MMP (membrane type 1 metalloproteinase), a membrane‐type MMP, is responsible for activation MMP2. In this study significance expression human breast tumors was investigated by immunocytochemical assay, its correlation with clinicobiological features analyzed. detected cells and/or stromal cells, there strong between expressions two cell...

10.1111/j.1349-7006.1999.tb00778.x article EN other-oa Japanese Journal of Cancer Research 1999-05-01

Abstract Background Gene transfer to the gastrointestinal (GI) mucosa is a therapeutic strategy which could prove particularly advantageous for treatment of various hereditary and acquired intestinal disorders, including inflammatory bowel disease (IBD), GI infections, cancer. Methods We evaluated vesicular stomatitis virus glycoprotein envelope (VSV-G)-pseudotyped lentiviral vectors (LV) efficacy gene both murine rectosigmoid colon in vivo human explants ex . LV encoding beta-galactosidase...

10.1186/1471-230x-10-44 article EN cc-by BMC Gastroenterology 2010-05-11
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