A5071830147- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Hemoglobin structure and function
- Epilepsy research and treatment
- Traumatic Brain Injury Research
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Diet and metabolism studies
- Reproductive tract infections research
- Amino Acid Enzymes and Metabolism
- RNA regulation and disease
- RNA Research and Splicing
- Hemoglobinopathies and Related Disorders
- Pharmacological Effects and Toxicity Studies
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Erythrocyte Function and Pathophysiology
- Metabolism and Genetic Disorders
- Immune Response and Inflammation
- Glycosylation and Glycoproteins Research
- Pancreatic and Hepatic Oncology Research
- Parvovirus B19 Infection Studies
- Digestive system and related health
- Autism Spectrum Disorder Research
Okayama University Hospital
2025
Himeji Red Cross Hospital
2025
Okayama University
2024-2025
Tottori University Hospital
2016-2024
Tottori University
2015-2024
Yokohama City University
2023
University of Occupational and Environmental Health Japan
1995-2022
Hospices Civils de Lyon
2022
Hôpital Femme Mère Enfant
2022
Nippon Medical School
1980-2019
Abstract Fas ligand (FasL) is a membrane-type cytokine belonging to the TNF family, and induces apoptosis through its cell-surface receptor, Fas. To determine cell types that express FasL, various mouse tissues lines were examined by Northern hybridization using FasL cDNA as probe. Among tissues, lymphoid organs (thymus, lymph node, spleen), lung, small intestine low levels of mRNA, suggesting role in general immune system mucosal immunity. The testis expressed mRNA most abundantly; however,...
To study the effects of 1,25-(OH), vitamin DS on transcription human parathyroid hormone (PTH) gene, 684 base pairs 5'-flanking portion PTH gene were fused to bacterial neo gene.The fusion was transfected into rat pituitary cells, and mixed populations colonies se- lected using neomycin analog, G418.The level RNA initiated from promoter region in these cells suppressed by D,.Synthesis same transcript under control a viral not regulated 1,225-(OH), D,.The effect detected within 24 h at...
A rise in extracellular calcium (CaZ+J suppresses not only secretion of parathyroid hormone (PTH) but also expression the PTH gene to ensure constant plasma Ca2+ level.A nuclear protein(s) a wide variety cells bound specific DNA elements (negative Ca' responsive elements, nCaREs) human sequence-specific and CaZ+, concentration-dependent manners.Our Southwestern cloning revealed that redox factor protein (refl), which was known activate several transcription factors via alterations their...
CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD as result of impaired dephosphorylation STAT1. We aimed identify characterize in patients develop simple diagnostic assay CMCD. Genetic analysis was performed their relatives. The identified were immunoblot reporter using transient gene expression experiments. Patients' leukocytes are...
A gene encoding Rhizopus niveus aspartic proteinase was isolated from an R. genomic library by using oligonucleotides probes corresponding to its partial amino acid sequence, and nucleotide sequence determined. By comparing deduced with the of rhizopuspepsin (5, 26), we concluded that has intron within coding region it a preproenzyme 66 acids upstream mature enzyme 323 acids.
<h3>Objective</h3> To elucidate the long-term effects of liver transplantation (LT) on familial amyloid polyneuropathy (FAP). <h3>Methods</h3> We investigated clinicopathological and biochemical characteristics systemic tissues in four autopsied cases FAP patients surviving more than 10 years after LT seven without LT. For analysing truncated form transthyretin (TTR) amyloid, we also employed specimens from additional 18 patients. <h3>Results</h3> Several tissue sites such as heart, tongue...
Background Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT generally caused by abnormality methyl-CpG binding protein 2 ( MECP2 ). Our objective to investigate the genetic landscape -negative typical/atypical and RTT-like phenotypes using whole exome sequencing (WES). Methods We performed WES on 77 patients either typical (n=11), atypical (n=22) or (n=44) incompatible criteria. Results Pathogenic...
1. The present study was conducted to investigate whether mild aerobic exercise and a hypocaloric diet, instead of severe restrictions on caloric intake, would affect weight reduction plasma leptin concentrations. 2. Forty‐one middle‐aged sedentary women (15 obese 26 non‐obese) participated in 12 week lifestyle‐modification programme reduce cardiovascular risk factors. Bodyweight, body composition, concentrations, serum lipid profiles, fasting glucose insulin were measured before after the...
We have identified and characterized a pair of negative regulatory elements far upstream the transcription start site human parathyroid hormone (hPTH) gene. Transfection various types cultured cells with fusion plasmid containing 4.7 kilobase pairs 5'-flanking portion hPTH gene linked to chloramphenicol acetyltransferase (CAT)-coding sequence generated only 10% CAT activity 684 base region Deletion analyses reveal that there are at least two separate DNA in responsible for regulation. find...
Abstract Objectives This study aimed to evaluate the successful sequencing rate of Foundation One CDx (F1CDx) using small tissue samples obtained with a 22‐gauge needle (22G) through endoscopic ultrasound‐guided fine acquisition (EUS‐TA) and propose guidelines for quantity evaluation criteria proper slide preparation in clinical practice. Methods Between June 2019 April 2024, 119 22G EUS‐TA collected F1CDx testing at Himeji Red Cross Hospital were retrospectively reviewed. Tissue adequacy...
We found that a negative calcium-responsive element (nCaRE) originally reported in the human parathyroid hormone gene is conserved among several genes. The results of present study show expression one genes, rat atrial natriuretic polypeptide gene, was negatively regulated heart by extracellular calcium using an vivo infusion system. Moreover, transfection cultured cells revealed this DNA conferred regulation on reporter gene. It suggested there family whose through motif, nCaRE.
A series of sp²-iminosugar glycomimetics differing in the reducing or nonreducing character, configurational pattern (d-
The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable progressive course that often leads to premature death. It has recently been reported abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked various unique leukoencephalopathies. Aminoacyl proteins fundamentally known as the first enzymes of translation, catalysing conjugation amino acids cognate tRNAs for protein synthesis. is certain have multiple non-canonical roles both...
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...
Mutations in SPATA5 have recently been shown to result a phenotype of microcephaly, intellectual disability, seizures, and hearing loss childhood. Our aim this report is delineate the syndrome as clinical entity, including facial appearance, neurophysiological, neuroimaging findings. Using whole-exome sequencing Sanger sequencing, we identified three children with mutations from two families. Two siblings carried compound heterozygous mutations, c.989_991del (p.Thr330del) c.2130_2133del...