A5101725783- Pluripotent Stem Cells Research
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Congenital Ear and Nasal Anomalies
- Genomics and Chromatin Dynamics
- Tracheal and airway disorders
- Mesenchymal stem cell research
- Tumors and Oncological Cases
- Renal and related cancers
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Prenatal Screening and Diagnostics
- Tuberous Sclerosis Complex Research
- Developmental Biology and Gene Regulation
- Nuclear Receptors and Signaling
- Neonatal Respiratory Health Research
- Esophageal and GI Pathology
- Macrophage Migration Inhibitory Factor
- RNA regulation and disease
- Hair Growth and Disorders
- Skin and Cellular Biology Research
- Cardiovascular Issues in Pregnancy
- Alkaline Phosphatase Research Studies
- Cellular transport and secretion
Keio University
2010-2024
Tokyo Medical University
2024
Keio University Hospital
2016-2022
National Center on Birth Defects and Developmental Disabilities
2012
CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, CHD7, and characterized a set of malformations that, on clinical grounds, were historically postulated to arise from defects neural crest formation during embryogenesis. To better delineate syndrome, we generated induced pluripotent stem cells (iPSCs) two patients with typical manifestations, differentiated vitro these iPSCs (iPSC-NCCs). We found that expression genes associated cell migration was altered...
Abstract The dermal papilla (DP) is a specialised mesenchymal component of the hair follicle (HF) that plays key roles in HF morphogenesis and regeneration. Current technical difficulties preparing trichogenic human DP cells could be overcome by use highly proliferative plastic induced pluripotent stem (hiPSCs). In this study, hiPSCs were differentiated into (iMCs) with bone marrow stromal cell phenotype. A LNGFR(+)THY-1(+) subset iMCs was subsequently programmed using retinoic acid...
Embryonic stem cells (ESCs) are a hallmark of ideal pluripotent cells. Epigenetic reprogramming induced (iPSCs) has not been fully accomplished. iPSC generation is similar to somatic cell nuclear transfer (SCNT) in oocytes, and this procedure can be used generate ESCs (SCNT-ESCs), which suggests the contribution oocyte-specific constituents. Here, we show that mammalian linker histone H1foo beneficial effects on generation. Induction with Oct4, Sox2, Klf4 significantly enhanced efficiency...
The CpG island flanking the promoter region of SNRPN on chromosome 15q11.2 contains sites that are completely methylated in maternally derived allele and unmethylated paternally allele. Both alleles observed normal individuals. Only is patients with Prader-Willi syndrome, whereas only those Angelman syndrome. Hence, detection aberrant methylation at differentially fundamental to molecular diagnosis syndrome syndromes. Traditionally, bisulfite treatment methylation-sensitive restriction...
Macrophage migration inhibitory factor (MIF) plays an important role in supporting the proliferation and/or survival of murine neural stem/progenitor cells (NSPCs); however, downstream effectors this remain unknown. Here, we show that MIF increases expression Pax6 and Chd7 NSPCs vitro. During development, chromatin remodeling (chromatin helicase-DNA-binding protein 7) is expressed ventricular zone telencephalon mouse brain at embryonic day 14.5, as well cultured NSPCs. Retroviral...
Multiple congenital disorders often present complex phenotypes, but how the mutation of individual genetic factors can lead to multiple defects remains poorly understood. In study, we used human neuroepithelial (NE) cells and CHARGE patient-derived as an in vitro model system identify function chromodomain helicase DNA-binding 7 (CHD7) NE-neural crest bifurcation, thus revealing etiological link between central nervous (CNS) craniofacial anomalies observed syndrome. We found that CHD7 is...
Abstract Prader‐Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused the dysfunction of hypothalamus. Patients with PWS present methylation abnormalities PWS‐imprinting control region in chromosome 15q11.2, subject to parent‐of‐origin‐specific controlling expression other paternally expressed genes flanking region. In theory, reversal hypermethylation hypothalamic cells could be a promising strategy for treatment patients, since...
Collapsin response mediator protein 2 (Crmp2) is an evolutionarily well-conserved tubulin-binding cytosolic that plays critical roles in the formation of neural circuitry model organisms including zebrafish and rodents. No clinical evidence CRMP2 variants are responsible for monogenic neurogenic disorders humans presently exists. Here, we describe two patients with de novo non-synonymous (S14R R565C) intellectual disability associated hypoplasia corpus callosum. We further performed various...
Abstract Specific classes of de novo heterozygous gain‐of‐function pathogenic variants the PDGFRB (platelet‐derived growth factor receptor‐beta) cause a distinctive overgrowth syndrome, named Kosaki syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been reported in literature. In addition to skeletal overgrowth, these exhibit hyperelastic, translucent, and fragile skin, scoliosis, progressive loss subcutaneous adipose tissue, skull deformity, infantile...
Abstract Sjögren‐Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused biallelic pathogenic variants in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, dehydrogenase (FALDH); FALDH catalyzes several metabolic reactions involved oxidation. Only a few studies have been performed to determine lipid profile of patients with SLS. In previous postmortem study brain 65‐year‐old...
Abstract The combination of holoprosencephaly and ectrodactyly, also known as Hartsfield syndrome, represents a unique genetic entity. An X‐linked recessive mode transmission has been suggested for this condition based on the observation that male patients have preferentially affected. Thus far, no candidate genes X chromosome. We report patient with full‐blown syndrome phenotype who had microduplication at Xq24 involving four genes. He presented bilateral ectrodactyly hands (both fingers...
A mutation in the chromatin remodeler chromodomain helicase DNA-binding 7 (CHD7) gene causes multiple congenital anomaly CHARGE syndrome. The craniofacial anomalies observed syndrome are caused by dysfunctions of neural crest cells (NCCs), which originate from tube. However, mechanism CHD7 regulates function human NCCs (hNCCs) remains unclear. We aimed to characterize cis-regulatory elements governed hNCCs analyzing genome-wide ChIP-Seq data and identifying hNCC-specific CHD7-binding...
Abstract Patients with chronic kidney disease (CKD) sometimes experience gastrointestinal symptoms, such as nausea and vomiting. In addition, hypertension CKD are closely linked, sustained in children is associated the progression of CKD, leading to early cardiomyopathy premature atherosclerosis. These symptoms substantially affect quality daily life patients, particularly they may cause growth retardation. Therefore, establishing effective management methods alleviate these very important....
The CpG island flanking the promoter region of SNRPN on chromosome 15q11.2 contains a sites that are completely methylated in maternally derived allele and unmethylated paternally allele. Both alleles observed normal individuals. Only is patients with Prader-Willi syndrome, whereas only those Angelman syndrome. Hence, detection aberrant methylation at differentially fundamental to molecular diagnosis syndrome syndromes. Traditionally, bisulfite treatment methylation-sensitive restriction...