A5090333706- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Carbohydrate Chemistry and Synthesis
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Cellular transport and secretion
- Heme Oxygenase-1 and Carbon Monoxide
- RNA regulation and disease
- Polyomavirus and related diseases
- Tumors and Oncological Cases
- Tuberous Sclerosis Complex Research
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- RNA Research and Splicing
- Porphyrin Metabolism and Disorders
- Skin and Cellular Biology Research
- Glaucoma and retinal disorders
- Genetic and rare skin diseases.
- Viral Infections and Immunology Research
- Genetic factors in colorectal cancer
- Retinal Imaging and Analysis
- Parkinson's Disease Mechanisms and Treatments
- Neuroendocrine Tumor Research Advances
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Mitochondrial Function and Pathology
Tottori University
2015-2025
Tottori University Hospital
2017-2023
Global Strategy Group
2019
Nagoya Medical Center
2019
National Hospital Organization
2019
Kyoto City Archaeological Research Institute
2017
Research Institute for Humanity and Nature
2017
Genomics (United Kingdom)
2016
Kanazawa University
2009
Okayama Prefecture
2009
CGG repeat–derived RNA G-quadruplexes accelerate liquid-to-solid transition of FMRpolyG.
For an understanding of the molecular basis marked decrease in catalase activity various tumor cells, expression gene was studied rat and human hepatoma cell lines liver, which used as a control with high activity. RNA blot hybridization profiles run-on assays indicated that due to depression transcription. Chloramphenicol acetyltransferase (CAT) for fragments lengths 5'-flanking region (up -4.5 kb from ATG codon) revealed presence several cis-acting elements involved negative regulation The...
Approximately half of autism spectrum disorder (ASD) individual suffer from comorbid intellectual disabilities (ID). Oxytocin (OXT) receptors are highly expressed in temporal lobe structures and likely to play a modulatory role excitatory/inhibitory balance, at least based on animal model findings. Thus, it is feasible that the representative group Kanner type ASD subjects OXT could have beneficial effect social communication interaction. The aim this pilot study was investigate feasibility...
ABSTRACT Introduction Acute encephalopathy (AE) in childhood due to a viral infection causes convulsions and altered consciousness, leading severe sequelae death. Among the four types of AE, cytokine storm–induced AE is most serious damage brain. Moreover, fundamental treatment for has not been established yet. Recently, it shown that administration multilineage‐differentiating stress‐enduring (Muse) cells, population mesenchymal stem improves symptoms various brain injuries when...
β-Galactosidase deficiency is a group of lysosomal lipid storage disorders with an autosomal recessive trait. It causes two clinically different diseases, GM1-gangliosidosis and Morquio B disease. caused by heterogeneous mutations in the GLB1 gene coding for acid β-galactosidase. We have previously reported chaperone effect N-octyl-4-epi-β-valienamine (NOEV) on mutant β-galactosidase proteins. In this study, we performed genotype analyses patients identified 46 mutation alleles including 9...
N iemann‐ P ick disease type C ( NPC ) is an autosomal recessive neurovisceral lipid storage disorder. Two disease‐causing genes NPC1 and NPC2 have been identified. characterized by neuronal glial NFTs . Here, we report a man with juvenile‐onset progressive neurological deficits, including pyramidal signs, ataxia, bulbar palsy, vertical supranuclear ophthalmoplegia, psychiatric symptoms; death occurred at age 37 before definitive clinical diagnosis. Post mortem gross examination revealed...
CSF tau phosphorylated at threonine 181 (p-tau181) is a widely used biomarker for Alzheimer disease (AD) and has recently been regarded to reflect β-amyloid and/or p-tau deposition in the AD brain. Neuronal intranuclear inclusion (NIID) neurodegenerative characterized by inclusions neurons, glial cells, other somatic cells. Symptoms include dementia, neuropathy, others. biomarkers were not reported. The objective of this study was investigate whether including p-tau181 are altered patients...
Next-generation DNA sequencing (NGS) in short-read mode has recently been used for genetic testing various clinical settings. NGS data accuracy is crucial settings, and several reports regarding quality control of data, primarily focusing on establishing sequence read accuracy, have published thus far. Variant calling another critical source errors that remains unexplored at the single-nucleotide level despite its established significance. In this study, we a machine-learning-based method to...
The case of a Japanese sialidosis type I patient with novel NEU1 gene mutation is described. developed an unsteady gait at age 14 and was referred to our hospital 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb ataxia, hyperreflexia macular cherry-red spots were observed. An enzymological analysis revealed primary deficiency neuraminidase. identified two heterozygous missense mutations: p.P80L p.D135N. p.D135N that considered be associated the mild...
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized intra-alveolar accumulation of microliths. We diagnosed case PAM 27-year-old Japanese female identified novel mutation (c.1390 G>C [G464R] exon 12).
The type I insulin-like growth factor receptor (IGF1R) plays an important role in growth. We aimed to evaluate the detailed mechanism underlying effect of IGF1R on human growth.We have performed sequence analysis 55 patients with SGA short stature Japan, since 2004, and identified novel heterozygous nonsense mutations 2 patients: 8-year-old Japanese boy (case 1), a birthweight 2228 g (-3·3 SDS) height 46 cm (-2·1 SDS), 3-year-old girl 2), 2110 (-3·0 44·3 (-2·8 SDS). Both had (-3·2 SDS, -3·1...
Abstract The purpose of this study was to identify the inflammatory cytokines that were associated with pachychoroid neovasculopathy (PNV). Seventy-five eyes 75 patients PNV, 145 neovascular age-related macular degeneration without pachyvessels, and 150 normal subjects examined for levels intraocular cytokines. In IL-1α, IL-1β, IL-2, IL-4, IL-10, VEGF significantly higher than controls. Logistic regression analysis showed highest association pachyvessels found IL-1α. IL-5, IL-13, IL-1β in...
Epidermal growth factor receptor (EGFR) mutation is the best marker of sensitivity to EGFR tyrosine kinase inhibitor gefitinib, but a for anti-EGFR antibody cetuximab has not been identified in lung cancer. The present study investigated markers cetuximab. Sensitivity and gefitinib was compared with expression, KRAS mutation, gene copy numbers cancer cell lines. We also studied effect these agents on activation EGFR, ERK, AKT, STAT3 cetuximab-sensitive -resistant found one line among 19...
Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of β-galactosidase and neuraminidase due to a defect in protective protein/cathepsin A. Patients present with various clinical manifestations are classified into three types according age onset: early infantile type, late juvenile/adult type. We report Japanese female case type galactosialidosis. Clinically, she presented short stature, coarse facies, angiokeratoma, remarkable action...
This study was performed to examine the role of endothelial constitutive NO synthase (ecNOS) gene in patients with abdominal aortic aneurysm (AAA).We determined distributions polymorphism intron 4 ecNOS (ecNOS4) gene, amplified by polymerase chain reaction, and compared allele frequencies between subjects aneurysms (AAAs) healthy individuals.Fifty-eight AAAs 410 race-matched controls were studied.Two alleles ecNOS4 containing (a-allele) 5 (b-allele) repeats, identified. We found that...
HSF (heat-shock transcription factor) trimers bind to the HSE element) regulatory sequence of target genes and regulate gene expression. A typical consists at least three contiguous inverted repeats 5-bp nGAAn. Yeast is able recognize discontinuous HSEs that contain gaps in array nGAAn sequence; however, hHSF1 (human HSF1) fails such sites vitro, yeast HeLa cells. In present study, we isolated suppressors temperature-sensitive growth defect hHSF1-expressing Intragenic contained amino acid...
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy crucial to prevent progression; however, diagnosing NPC quite difficult because of remarkably variable clinical presentations. The Suspicion Index (NPC-SI) was developed overcome this problem. Identifying preclinical cases important for prevention and therapy. Here, we report three newly diagnosed cases, one typical juvenile-onset case the two sisters symptoms...