A5016848743- RNA modifications and cancer
- Adrenal Hormones and Disorders
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- RNA and protein synthesis mechanisms
- Down syndrome and intellectual disability research
- Genomic variations and chromosomal abnormalities
- T-cell and B-cell Immunology
- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Glaucoma and retinal disorders
- Diabetes and associated disorders
- Metabolism and Genetic Disorders
- Hormonal Regulation and Hypertension
- Autoimmune Bullous Skin Diseases
- Skin and Cellular Biology Research
- Glycosylation and Glycoproteins Research
- ATP Synthase and ATPases Research
- Dermatology and Skin Diseases
- Bacteriophages and microbial interactions
- Ubiquitin and proteasome pathways
- Allergic Rhinitis and Sensitization
- Epigenetics and DNA Methylation
- Immune Cell Function and Interaction
- Monoclonal and Polyclonal Antibodies Research
Keio University
2012-2023
Keio University Hospital
2001-2018
Gene Therapy Laboratory
2013
Fujita Health University
2012
The University of Tokyo
2011
Collaborative Research Group
1993-2011
National Center of Neurology and Psychiatry
2003
Kyushu University
2002
University of Geneva
1998-2001
National Institutes of Health
2001
Chromosome 21 is the smallest human autosome. An extra copy of chromosome causes Down syndrome, most frequent genetic cause significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions common complex have also been mapped this chromosome, loss heterozygosity has observed regions associated with solid tumours. Here we report sequence gene catalogue long arm 21. We sequenced 33,546,361 base pairs (bp) DNA very high...
Previously, we described the safety and therapeutic potential of neurospheres (NSs) derived from a human induced pluripotent stem cell (iPSC) clone, 201B7, in spinal cord injury (SCI) mouse model. However, several issues concerning iPSC-based therapy remain unresolved. Here, investigated another iPSC 253G1, that established by transducing OCT4, SOX2, KLF4 into adult dermal fibroblasts collected same donor who provided 201B7 clone. The grafted 253G1-NSs survived, differentiated three neural...
We have isolated a chromosomal DNA segment of the human IL-4 gene based on homology with cDNA sequence and determined its complete nucleotide sequence. The gene, which occurs as single copy in haploid genome, is mapped chromosome 5. It composed four exons three introns approximately 10 kilobase pairs size. 5'-Flanking regions mouse genes share about 85% extending more than 500 base upstream "TATA" like Several patches sequences are found 5'-flanking region homologous to IL-2, IL-3, IL-5,...
Abstract The stratum corneum (SC), the outermost layer of epidermis, acts as a barrier against external environment. It is hydrated by endogenous humectants to avoid desiccation. However, molecular mechanisms SC hydration remain unclear. We report that skin‐specific retroviral‐like aspartic protease (SASPase) deficiency in hairless mice resulted dry skin and thicker less with an accumulation aberrantly processed profilaggrin, marked decrease filaggrin, but no alteration free amino acid...
Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED; OMIM#240300), a monogenic recessively inherited disease characterized by destructive diseases of endocrine organs, chronic candidiosis mucous membranes and ectodermal dystrophies. In this study expression murine homolog AIRE protein, Aire, was detected fraction thymic medullary epithelial cells. Subcellularly, thymus protein appears...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM* 240300, also called APS 1,) is a rare autosomal recessive disorder that more frequent in certain isolated populations. It generally characterized by two of the three major clinical symptoms may be present, Addison's disease and/or hypoparathyroidism chronic mucocutaneous candidiasis. Patients have number other including gastritis, gonadal failure, and rarely, autoimmune thyroid insulin-dependent diabetes mellitus....
Autoimmune regulator (AIRE) gene mutation is responsible for the development of autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy, an organ-specific autoimmune disease with monogenic autosomal recessive inheritance. AIRE predominantly expressed in medullary epithelial cells thymus and considered to play important roles establishment self-tolerance. contains two plant homeodomain (PHD) domains, novel role PHD as E3 ubiquitin (Ub) ligase has just emerged. Here we show that first...
Abstract The human heart-skeletal muscle adenine nucleotide translocator (ANT1) gene was isolated and sequenced. It spans 5.8 kilobases contains four exons. 5'-nontranscribed region typical CCAAT TATA sequences, a 22-nucleotide pair inverted repeat 13-nucleotide sequence homologous to similar in the ATP synthase beta subunit gene. surrounding first exon intron is G+C-region G+C-rich, three Sp1 binding motifs. ANT1 assigned chromosome 4 using both flow-sorted chromosomes segregating...