A5038099871- Virus-based gene therapy research
- Insect-Plant Interactions and Control
- Immunodeficiency and Autoimmune Disorders
- CAR-T cell therapy research
- Platelet Disorders and Treatments
- Insect and Pesticide Research
- Insect Resistance and Genetics
- CRISPR and Genetic Engineering
- Acute Myeloid Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Cytomegalovirus and herpesvirus research
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Blood groups and transfusion
- Insect Pest Control Strategies
- Retinoids in leukemia and cellular processes
- RNA Interference and Gene Delivery
- Insect behavior and control techniques
- Viral Infectious Diseases and Gene Expression in Insects
- Cell Adhesion Molecules Research
- Protein Degradation and Inhibitors
- Biodiesel Production and Applications
- Chronic Lymphocytic Leukemia Research
- Lubricants and Their Additives
National Center For Child Health and Development
2016-2025
Gifu University of Medical Science
2024
National Defense Medical College
2024
Shizuoka Prefecture Agricultural and Forestry Research Institute
2014-2024
National Institute for Japanese Language and Linguistics
2024
Children's Cancer Center
2022
Research Network (United States)
2020
National Human Genome Research Institute
2011-2016
Industrial Research Institute of Shizuoka Prefecture
2015
Tohoku University
1994-2014
Haploinsufficiency of A20 (HA20) is caused by loss-of-function TNFAIP3 variants. Phenotypic and genetic features HA20 remain uncertain; therefore, the clinical distinction between Behçet's disease (BD) requires clarification.We have collected 12 Japanese BD-like families. Probands these families were analyzed whole exome sequencing (WES) subsequent Sanger sequencing. Clinical compared 54 patients (including previously reported new cases) 520 BD patients.We identified c.1434C>A:p.(Cys478*) in...
Abstract Introduction Severe combined immunodeficiency (SCID) due to T‐cell deficiency is the most severe form of inborn error immunity (IEI). It frequently leads and recurrent infections first infection or live vaccines can sometimes be fatal. Patients with B‐cell (BCD), such as X‐linked agammaglobulinaemia (XLA), also suffer from infections. Thus, early diagnosis via newborn screening (NBS) suitable for these types diseases. We developed a lyophylized TaqMan‐based quantitative polymerase...
The IL-2R gamma-chain is an indispensable subunit for the functional IL-2R. Recently, mutations of have been reported to be closely associated with X-linked severe combined immunodeficiency (XSCID). present study reveals that three patients XSCID different in gamma-chain; a point mutation, two consecutive-base deletion, and lack second exon mRNA. mutation we detected C T, which results one amino acid substitution valine alanine extracellular domain (named AV mutant). two-base deletion causes...
Abstract Translocations of retinoic acid receptor-α (RARA), typically PML–RARA, are a genetic hallmark acute promyelocytic leukemia (APL). However, because small fraction APL lack translocations RARA, we focused here on cases without RARA translocation to elucidate the molecular etiology RARA-negative APL. We performed whole-genome sequencing, PCR, and FISH for five translocations. Four had involving receptor-β (RARB) translocations, TBL1XR1–RARB was identified as an in-frame fusion in three...
Mixed-lineage-leukemia (MLL) fusion oncogenes are intimately involved in acute leukemia and secondary therapy-related leukemia. To understand MLL-rearranged leukemia, several murine models for this disease have been established. However, the mouse derived from hematopoietic stem cells (HSCs) may not be fully comparable with human Here we developed a humanized model by transplanting cord blood-derived HSCs transduced an MLL-AF10 oncogene into supra-immunodeficient strain, NOD/Shi-scid,...
Abstract The smaller tea tortrix, Adoxophyes honmai , has developed strong resistance to tebufenozide, a diacylhydrazine-type (DAH) insecticide. Here, we investigated its mechanism by identifying genes responsible for the tebufenozide using various next generation sequencing techniques. First, double-digest restriction site-associated DNA (ddRAD-seq) identified two candidate loci. Then, synteny analyses A. draft genome sequences revealed that one locus contained ecdysone receptor gene ( EcR...
Abstract Minimal residual disease (MRD) is usually defined as the small number of cancer cells that remain in body after treatment. The clinical significance MRD kinetics well recognized treatment hematologic malignancies, particularly acute lymphoblastic leukemia (ALL). Real time quantitative PCR targeting immunoglobulin (Ig) or T-cell receptor (TCR) rearrangement (PCR-MRD), multiparametric flow cytometric analysis antigen expression, are widely used detection. In this study, we devised an...
Abstract Background The deletion region of 22q11.2 syndrome (22q11.2DS) contains a gene encoding glycoprotein Ibβ (GPIbβ), which is required to express the GPIb/IX/V complex on platelet surface. Therefore, patients with 22q11.2DS may have congenital disorders. However, information limited platelets and bleeding symptoms. In this study, we investigated clinical information, including symptoms, counts, GPIb expression levels in children adolescents/adults 22q11.2DS. Procedure Thirty‐two were...
Abstract Background X‐linked severe combined immunodeficiency (SCID‐X1, X‐SCID) is a life‐threatening disease caused by mutated common cytokine receptor γ chain (γc) gene. Although ex vivo gene therapy, i.e., transduction of the γc into autologous CD34 + cells, has been successful for treating SCID‐X1, retrovirus vector‐mediated transfer allowed dysregulated integration, causing leukemias. Here, to explore an alternative methodology that may offer less risk insertional mutagenesis, we...
The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and immunodeficiency. Hematopoietic cell transplantation can cure the disease gene therapy being tested as alternative treatment option. In this study, we assessed use of foamy virus (FV) vectors a transfer system for WAS, using Was knockout (KO) mouse model. Preliminary experiments FV expressing green fluorescent protein under transcriptional control endogenous WAS promoter or ubiquitously...
Mutations in the gene encoding Wiskott-Aldrich syndrome protein (WASP) are responsible for and WASP is a major actin regulator cytoplasm. Although rare gain-of-function mutations known to result X-linked neutropenia (XLN), molecular pathogenesis of XLN not fully understood. In this study, we showed that all reported constitutively activating mutants (L270P, S272P I294T) were hyperphosphorylated by Src family tyrosine kinases demonstrated higher polymerization activities compared with...
Allogeneic hematopoietic stem cell transplantation (HSCT) is performed as a curative treatment for children with nonmalignant diseases, such bone marrow failure syndromes and primary immunodeficiencies. Because graft-versus-host-disease (GVHD) major factor affecting survival probability quality of life after HSCT, the availability HLA-matched donors restricts application HSCT. Recently, HSCT post-transplantation cyclophosphamide (PTCy) has emerged potent method to prevent GVHD from...
Wiskott-Aldrich syndrome (WAS) is caused by mutations in the gene encoding WAS protein (WASP ). Recently, somatic mosaicism reversions or second-site has been reported some inherited disorders including WAS. In this article, we describe a 15-year-old patient due to second-hit mutation initiation codon. The originally had single-base deletion (c.11delG; p.G4fsX40) (WASP) gene, which resulted frameshift and abrogated expression. Subsequently, fraction of T natural killer (NK) cells expressed...