A5103255242- Connective tissue disorders research
- Dermatology and Skin Diseases
- Genomics and Rare Diseases
- Neuropeptides and Animal Physiology
- Genetic Neurodegenerative Diseases
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Dermatological and Skeletal Disorders
- Pain Mechanisms and Treatments
- Salivary Gland Tumors Diagnosis and Treatment
- Neurological diseases and metabolism
- Skin and Cellular Biology Research
- Stress Responses and Cortisol
- Oral and Maxillofacial Pathology
- Ubiquitin and proteasome pathways
- Proteoglycans and glycosaminoglycans research
- Vascular Anomalies and Treatments
- Mitochondrial Function and Pathology
- Soft tissue tumor case studies
- Urticaria and Related Conditions
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Amino Acid Enzymes and Metabolism
- Biochemical effects in animals
Shinshu University Hospital
2017-2025
Shinshu University
2016-2025
Yamaguchi University
2024
Nippon Veterinary and Life Science University
2024
Ōtani University
2018-2023
Hokuto Hospital
2016-2021
Kyoto University
1999-2020
John Wiley & Sons (United States)
2020
Hudson Institute
2020
Institute of Livestock and Grassland Science
2016
Abstract Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as major cause of loss. We investigated frequency deletions Japanese population characteristics associated For CNV analysis, we employed specialized method Ion AmpliSeq TM sequencing, confirmed results via custom array comparative genomic hybridization. identified 17 probands with homozygous deletions. The...
In addition to conventional cytology, liquid-based cytology (LBC) is also used for immunocytochemistry and gene analysis. However, an appropriate method obtain high quality DNA next-generation sequencing (NGS) using LBC specimens remains controversial. We determined the optimal conditions fixation with alcohol-based fixative extraction cultured cancer cell lines clinical specimens. The extracted was processed NGS after confirmed based on concentration degree of degradation. cells were fix at...
Background Musculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS- ) or DSE ). Although 48 patients 33 families with mcEDS- have been reported, the spectrum of pathogenic variants, accurate prevalence various manifestations and detailed natural history not systematically investigated. Methods We collected comprehensive clinical molecular information regarding previously reported newly identified through international collaborations....
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques management this remain unknown because its rarity. We report patient who developed endometrial cancer underwent surgery,...
The Ehlers–Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, new subtype EDS called classical-like type 2 (clEDS2), which is caused by biallelic variants adipocyte enhancer binding protein 1 ( AEBP1 ) gene, was identified. We describe 11th patient (9th family) with clEDS2, who complicated critical vascular event (superior mesenteric artery aneurysm and rupture). A next-generation...
Rat liver homogenates reduced ubiquinone (UQ)-10 to ubiquinol (UQH2)-10 in the presence of NADPH rather than NADH. This NADPH-dependent UQ reductase (NADPH-UQ reductase) activity that was not inhibited by antimycin A and rotenone, located mainly cytosol fraction its accounted for 68% homogenates. Furthermore, NADPH-UQ from rat efficiently both UQ-10 incorporated into egg yolk lecithin liposomes, native UQ-9 residing microsomes, respective UQH2 form NADPH. The gross redox ratios UQH2-9/(UQ-9...
Copy number variations (CNVs), a major cause of genetic hearing loss, most frequently involve the STRC gene, located on chr15q15.3 and causally related to autosomal recessive non-syndromic loss (ARNSHL) at DFNB16 locus. The interpretation sequence data can be challenging due existence virtually identical pseudogene, pSTRC, that promotes complex genomic rearrangements in this region. Targeted enrichment with massively parallel sequencing (TGE+MPS) has emerged as preferred method by which...
Thyroid carcinoma (TC) has characteristic genetic alterations, including point mutations in proto-oncogenes and chromosomal rearrangements that vary by histologic subtype. Recent developments next-generation sequencing (NGS) technology enable simultaneous analysis of cancer-associated genes interest, thus improving diagnostic accuracy allowing precise personalized treatment for human cancer. A total 50 patients who underwent thyroidectomy between 2014 2016 at Hokuto Hospital were enrolled....
Osteogenesis imperfecta (OI) is a connective tissue disorder that characterized by low bone density leading to recurrent fractures. The efficacy of the anti-resorption drug denosumab for OI with osteoporosis still largely unknown. We herein describe clinical outcomes eight osteoporotic cases examine effects and safety denosumab. This retrospective, consecutive case series included patients respectively aged 42, 40, 14, 22, 3, 51, 37, 9 years. measured mineral (BMD) lumbar 1⁻4 spine (L-BMD)...
The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. copy number variations (CNVs) identified in this are also known cause loss, but have not been Japanese patients with Furthermore, clinical features OTOA-associated loss yet clarified. In study, we performed CNV analyses a large cohort, and CNVs 234 2262 (10.3%, 234/2262) Among CNVs, gene-related were second most frequent (0.6%, 14/2262). 14 cases, 2 individuals...
Cancer genome profiling of cytology specimens using next-generation sequencing (NGS) requires adequate and good-quality DNA. Genomic examination samples was conventionally performed on cell block (CB) or smear than residual liquid-based (LBC) specimens, which are high-quality DNA sources even after long-term storage.We estimated tumor fractions 37 LBC including 30 fine needle aspiration (FNA) from the thyroid (12 papillary carcinomas two malignant lymphomas), lymph node (13 metastatic one...
We examined whether opioids, especially morphine, would centrally elicit scratching in mice and determined some characteristics of the scratch-inducing action opioids. When intracisternally (i.e.) injected, morphine (0.1–3 nmol/mouse) produced a dose-dependent increase face, but not ears, head body trunk. injected intradermally into rostral part back, (at most potent i.e. dose 3 nmol/mouse or higher) did site. Facial mouse induced by injection (0.3 was almost abolished distraction naloxone...
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...
Osteogenesis imperfecta (OI) is an inherited bone disorder that causes fractures due to impaired production of collagen type I. In recent years, denosumab, a human monoclonal antibody against receptor activator nuclear factor κB ligand (RANKL), has become widely used as anti-osteoclastic agent for osteoporosis. This study investigated osteoporotic cases OI examine effects denosumab on fragility. was retrospective, consecutive case series included 3 female patients aged 42, 40, and 14...