A5045947339- Mosquito-borne diseases and control
- Viral Infections and Vectors
- Malaria Research and Control
- Biochemical and Molecular Research
- Genomic variations and chromosomal abnormalities
- Cytomegalovirus and herpesvirus research
- Selenium in Biological Systems
- RNA modifications and cancer
- HIV/AIDS drug development and treatment
- RNA Research and Splicing
- Plant Virus Research Studies
- Metalloenzymes and iron-sulfur proteins
- Congenital gastrointestinal and neural anomalies
- Bacteriophages and microbial interactions
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Microbial infections and disease research
- Viral Infectious Diseases and Gene Expression in Insects
- Adipose Tissue and Metabolism
- Mitochondrial Function and Pathology
- Herpesvirus Infections and Treatments
- Viral Infections and Outbreaks Research
- RNA and protein synthesis mechanisms
- Prenatal Screening and Diagnostics
- Pneumocystis jirovecii pneumonia detection and treatment
Hiratsuka City Hospital
2012-2024
Tokyo Metropolitan University
2012-2024
Aichi Developmental Disability Center
1999-2023
Furukawa Electric (Japan)
2021
Aichi Human Service Center
2005-2018
Tokushima Bunri University
2012
Life Science Institute
2012
Akita Red Cross Hospital
2012
National Institute of Infectious Diseases
1981-2007
Tokyo Metropolitan Komagome Hospital
2006
Entry of Japanese encephalitis virus (JEV) into cells was analysed by using the vertebrate cell line Vero. Vero were treated with chlorpromazine, nystatin or cytochalasin D, which inhibit clathrin- and caveola-dependent endocytosis, macropinocytosis cells, respectively. Productive JEV infection inhibited pretreatment chlorpromazine; number antigen-positive less than one-fifth that in untreated cultures, but not significantly decreased cytochalasin. Viral antigens detected membrane fractions,...
ABSTRACT The fluorogenic TaqMan reverse transcriptase PCR (RT-PCR) assay was developed for detecting each of the dengue virus (DV) types 1 to 4. DV genome detected in all 35 serum samples from confirmed cases by RT-PCR, although it not 13 and 21% conventional type-specific cross-reactive respectively.
SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or are effective therapies for both diseases.We conducted on the detailed clinical, brain MRI molecular genetic analysis of four Japanese patients pedigree who presented epileptic spasms early infancy, severe...
Although it is clear that lipids are responsible for insulin resistance, poorly understood what types of involved. In this study, we verified the characteristic lipid species in skeletal muscle a chronic exercise training model and high-fat induced-obesity model. Three different lipidomics analyses revealed phospholipid qualitative changes. As result, linoleic acid-containing phosphatidylcholine sphingomyelin docosahexanoic were characterized as training-induced lipids. On contrary,...
<h3>Background</h3> Short-chain enoyl-CoA hydratase—ECHS1—catalyses many metabolic pathways, including mitochondrial short-chain fatty acid β-oxidation and branched-chain amino catabolic pathways; however, the products essential for diagnosis of ECHS1 deficiency have not yet been determined. The objective this report is to characterise a mild form its biochemically, determine candidate product that can be efficiently used neonatal diagnosis. <h3>Methods</h3> We conducted detailed clinical,...
To describe the clinical features of dengue cases in Japan, a retrospective study was conducted on 62 laboratory-confirmed Japanese presented to Tokyo Metropolitan Komagome Hospital between 1985 and 2000. Age distribution from 18 years old (mean, 31.5 years). All were imported abroad diagnosed as fever. Clinical manifestations included fever (100%), headache (90%), skin rash (82%). Laboratory examinations revealed leukocytopenia (71%), thrombocytopenia (57%), elevated levels serum aspartate...
Mowat–Wilson syndrome (MWS) is a multiple congenital anomaly characterized by moderate or severe intellectual disability, characteristic facial appearance, microcephaly, epilepsy, agenesis hypoplasia of the corpus callosum, heart defects, Hirschsprung disease, and urogenital/renal anomalies. It caused de novo heterozygous loss function mutations including nonsense mutations, frameshift deletions in ZEB2 at 2q22. encodes zinc finger E‐box binding homeobox 2 protein consisting 1,214 amino...
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...
Abstract BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye and renal anomalies small kidneys, with without Hirschsprung disease cleft palate cryptorchidism. This has only been reported in three male patients. Here, we report on the fourth patient presenting anomaly, growth retardation, vertebral (skeletal) disease, low‐set large ears, cryptorchidism, kidneys. These...
Mitochondrial trifunctional protein (MTP) is a hetero‐octamer composed of four α‐ and β‐subunits that catalyzes the final three steps mitochondrial β‐oxidation long chain fatty acids. HADHA HADHB encode α‐subunit β‐subunit MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated hypoparathyroidism peripheral polyneuropathy. Here, we report on siblings autosomal recessive infantile onset hypoparathyroidism, polyneuropathy, rhabdomyolysis. Sequence...
Selenocysteine (Scy) was synthesized on natural opal suppressor tRNA(Ser) by conversion from seryl-tRNA. We studied the mechanisms of synthesis mammalian Scy-tRNA using hydro[75Se]selenide (H75Se-). found Scy synthase activity in 105,000 g supernatant a murine liver extract. The chromatographed DEAE-cellulose, and eluted at 0.12 M-KCl. reaction mixture for contained tRNA, serine, ATP, seryl-tRNA synthetase (SerRS), HSe- enzyme to synthesize Scy-tRNA. These are all essential tRNA product...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ganglia disease, without high concentrations pyruvate lactate in the cerebrospinal fluid. Only 4 cases HIBCH have been reported. However, clinical-biochemical correlation determining detailed residual enzyme activities has not yet elucidated. Here, we report case two Japanese siblings with carrying new homozygous missense mutation (c.287C >...
Molecular epidemiology of dengue viruses in endemic countries have been reported, but few were reported on the imported cases among travelers. We analyzed isolated from Japan who infected while traveling regions world.We sequenced complete envelope (E) gene 33 virus strains patients returning Asia, Oceania, South Pacific islands, and America to where no domestic infection occurs. then performed phylogenetic analysis define geographic origin viruses. Moreover, we compared genomes with those...
We examined the induction of catalase gene (ctt1(+)) fission yeast Schizosaccharomyces pombe in response to several stresses by using mutants transcription factors (Atf1 and Pap1) a series deletion ctt1(+) promoter region. A factor, Atf1, its binding site are necessary for osmotic stress, UV irradiation, heat shock. Induction menadione treatment, which produces superoxide anion, required element A, region from -111 -90 (numbered with start as +1). The factor responsible oxidative stress via...
ABSTRACT We developed immunoglobulin M (IgM) antibody capture enzyme-linked immunosorbent assays (ELISAs) with four monovalent dengue virus antigens. attempted to determine whether IgM responses in infections are serotype specific or cross-reactive. Serum samples from 14 confirmed cases were examined. In these cases, which consisted of 12 Japanese and 2 non-Japanese patients, infecting serotypes defined by reverse transcription-PCR. Thirteen the positive ELISA. cross-reactive 13 but highest...
SLC19A3 deficiency, also called thiamine metabolism dysfunction syndrome-2 (THMD2; OMIM 607483), is an autosomal recessive neurodegenerative disorder caused by mutations in SLC19A3, the gene encoding transporter 2. To investigate molecular mechanisms of neurodegeneration deficiency and whether administration high-dose prevents neurodegeneration, we generated homozygous Slc19a3 E314Q knock-in (KI) mice harboring mutation corresponding to human E320Q, which associated with severe form THMD2....
We have cloned a gene of Schizosaccharomyces pombe homologues to the glutathione peroxidase gene. The gene, named gpx1+, encoded protein that was 158 amino acids in length and had molecular mass 18 kDa. gpx1+ is homologous with many genes but selenocysteine codon (UGA) position mammalian cysteine (UGU) S. pombe. mRNA induced by various stresses, including oxidative stress, osmostress heat stress. These stresses activate Wis1–Sty1/Spc1 MAP kinase cascade Transcriptional factors Atf1 Pap1 are...