A5066599904- Gastric Cancer Management and Outcomes
- Esophageal Cancer Research and Treatment
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Esophageal and GI Pathology
- Advanced biosensing and bioanalysis techniques
- Metastasis and carcinoma case studies
- Force Microscopy Techniques and Applications
- Near-Field Optical Microscopy
- Biochemical and Molecular Research
- RNA modifications and cancer
- Helicobacter pylori-related gastroenterology studies
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Autoimmune and Inflammatory Disorders
- RNA Research and Splicing
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genetic Mapping and Diversity in Plants and Animals
- Metabolism and Genetic Disorders
- Integrated Circuits and Semiconductor Failure Analysis
- DNA and Nucleic Acid Chemistry
- Genomics and Chromatin Dynamics
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
- Surface and Thin Film Phenomena
Tohoku Medical and Pharmaceutical University Hospital
2021-2025
Tohoku Medical and Pharmaceutical University
2020-2024
Aichi Developmental Disability Center
2017-2021
Miyagi Prefectural Hospital Organization
2021
Tohoku University
2021
Aichi Human Service Center
2008-2018
Saitama Cancer Center
2007-2008
Institute for Multidisciplinary Research
2006
Niigata University
2005
Food Research Institute
2003
<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,...
Abstract Some patients with ulcerative colitis (UC) suffer from complicated UC-associated upper gastrointestinal lesions. However, the trigger of these lesions has not been clarified. Herein, we present a 28-year-old man relapsed pan-colonic UC accompanied by gastroduodenal immediately after contracting coronavirus disease 2019 (COVID-19). In this patient, approximately 7 days COVID-19 onset, despite being in remission for 3 years. The patient also developed symptoms such as epigastric pain...
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...
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...
The microscopic adsorption state of acetylene (${\mathrm{C}}_{2}$${\mathrm{H}}_{2}$) on Si(111)(7\ifmmode\times\else\texttimes\fi{}7) at room temperature has been studied by using scanning tunneling microscopy. center adatoms are more reacted than the corner in a ratio about 2:1 upon acetylene. It is predominantly faulted subunit that acetylene, rather those unfaulted subunit, indicating initially mobile precursor state. No significant restructuring surface Si atoms observed. proposed...
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 >...
Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show broad spectrum symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry is type IGDs. There are at least 26 genes involved in the biosynthesis and transport GPI-anchored proteins; however, IGDs constitute rare correlations between symptoms affected or mutations have not been shown. Here, we report four newly identified five previously described Japanese families...
Abstract Cholangiocarcinoma (CCA) is one of the most difficult malignancies to treat as therapeutic options are limited. Although several driver genes have been identified, remain unknown. In this study, we identified a failed axon connection homolog ( FAXC ), whose function unknown in mammals, by analyzing serially passaged CCA xenograft models. Knockdown reduced subcutaneous tumorigenicity mice. was bound annexin A2 (ANXA2) and c‐SRC, which tumor‐promoting genes. The FAXC/ANXA2/c‐SRC...
Abstract Background and Aim We previously identified that ever‐smoking severe gastric atrophy in pepsinogen are risk factors for synchronous cancers (SGCs). This study aimed to determine the association of alcohol drinking status or alcohol‐related genetic polymorphism with SGCs also stratify their risk. Methods multi‐center prospective cohort included patients who underwent endoscopic submucosal dissection initial early at 22 institutions Japan. evaluated dehydrogenase 1B (ADH1B)...
Abstract Cancer stem cells (CSCs) are responsible for therapy resistance and share several properties with normal cells. Here, we show that brain‐expressed X‐linked gene 2 (BEX2), which is essential dormant CSCs in cholangiocarcinoma, highly expressed human hepatocellular carcinoma (HCC) lesions compared the adjacent 41 HCC cases BEX2 high expression group correlated a poor prognosis. localizes to Ki67‐negative (nonproliferative) cancer tissues fraction of cell lines. Knockdown attenuates...
Structures created on the Si(111) substrate in presence of Au atoms corresponding to coverages (θ; ) ∼0.7–1.4 monolayers (ML) are discussed basis observed scanning tunneling microscopy images. At small θ; 's ( ∼0.7–1.0 ML), a √3×√3 phase and less-ordered coexist, fractional area latter being increased with increasing , at larger (\stackrel>∼ 1.1 6×6 appears as single phase, agreement previous reports. It is shown that coexisting already has close relation structure. The most fundamental...
Abstract CHD6 is an ATP‐dependent chromatin‐remodeling enzyme, which has been implicated as a crucial component for maintaining and regulating chromatin structure. belongs to the largest subfamily, subfamily III (CHD6–9), of chromodomain helicase DNA (CHD‐binding protein) family enzymes (CHD1–9). Here we report on female patient with balanced translocation t(4;20)(q33;q12) presenting severe mental retardation brachydactyly toes. We identified breakpoint in intron 27 at 20q12, while 4q33 was...
Although esophageal cancers invading the muscularis mucosa (pT1a-MM) or submucosa (pT1b-SM) after endoscopic resection (ER) are associated with a risk of lymph node metastasis, details metastatic recurrence additional treatment remain unknown. We aimed to identify factors for and patterns in patients receiving ER cancer. Between 2006 2017, pT1a-MM/pT1b-SM cancer who underwent (esophagectomy, chemoradiotherapy [CRT], radiation therapy) at 21 institutions Japan were enrolled. evaluated...
Abstract Cholangiocarcinoma is a fatal disease with limited therapeutic options. We screened genes required for cholangiocarcinoma tumorigenicity and identified FADS2, delta‐6 desaturase. FADS2 depletion reduced in vivo cell proliferation. In clinical samples, was expressed cancer cells but not stromal cells. inhibition also the migration sphere‐forming ability of increased apoptotic death ferroptosis markers. Lipidome assay revealed that triglyceride cholesterol ester levels were decreased...
Abstract The clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system has facilitated dramatic progress in the field of genome engineering. Whilst microinjection Cas9 protein and a single guide RNA (sgRNA) into mouse zygotes is widespread method for producing genetically engineered mice, vitro vivo electroporation (which are much more convenient strategies) have recently been developed. However, it remains unknown whether these methods able to manipulate genomes at...
Xq28 duplication syndrome including MECP2 is a neurodevelopmental disorder characterized by axial hypotonia at infancy, severe intellectual disability, developmental delay, mild characteristic facial appearance, epilepsy, regression, and recurrent infections in males. We identified Japanese family of duplications, which the patients presented with cerebellar ataxia, constipation, small feet, addition to common clinical features. The 488‐kb spanned from L1CAM EMD contained 17 genes, two...
Abstract In a metaphase comparative genomic hybridization and fluorescence in situ study of 13 congenital mesoblastic nephroma (CMN) tumors, trisomy 11 was found seven cellular or mixed type disomy with other chromosome changes two no four classical tumors. Reverse‐transcription (RT)‐PCR analysis detected the ETV6‐NTRK3 fusion transcript all eight tumors examined, but not All showed duplication paternal IGF2 allele, six one maternal allele , analyzing methylation status sixth CTCF site H19‐...