A5003396140- Metabolism and Genetic Disorders
- Infectious Encephalopathies and Encephalitis
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Neurogenesis and neuroplasticity mechanisms
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
- Bacterial Infections and Vaccines
- Ion channel regulation and function
- Hereditary Neurological Disorders
- Fetal and Pediatric Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Microtubule and mitosis dynamics
- RNA Research and Splicing
- Ovarian function and disorders
- interferon and immune responses
- ATP Synthase and ATPases Research
- Amino Acid Enzymes and Metabolism
- Epigenetics and DNA Methylation
- Neonatal and fetal brain pathology
- Herpesvirus Infections and Treatments
- Genetic Syndromes and Imprinting
Kanagawa Children's Medical Center
2015-2025
Tokyo Metropolitan Children's Medical Center
2004-2022
University of Wisconsin–Madison
2022
Saitama Medical University
2013
Gunma Children's Medical Center
2013
Tokyo Medical University
2013
Tokyo Metropolitan Institute of Medical Science
2013
Kameda Medical Center
2013
Boston Children's Hospital
2004-2011
Keio University
1999-2005
Neurons destined for each region of the neocortex are known to arise approximately in an "inside-to-outside" sequence from a pseudostratified ventricular epithelium (PVE). This is initiated rostrolaterally and propagates caudomedially. Moreover, independently location PVE, neuronogenetic mouse divisible into 11 cell cycles that occur over 6 d period. Here we use novel "birth hour" method identifies small cohorts neurons born during single 2 hr period, i.e., 10-20% cycle, which corresponds...
Dopamine is a neuromodulator the functions of which in regulation complex behaviors such as mood, motivation, and attention are well known. appears brain early embryonic period when none those robust, raising possibility that dopamine may influence development. The effects on specific developmental processes neurogenesis not fully characterized. neostriatum dopamine-rich region developing mature brain. If influenced neurogenesis, would likely be pronounced neostriatum. Therefore, we examined...
Objective: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood following severe febrile seizures, leaving neurologic sequelae in many patients. However, its pathogenesis remains unclear. In this study, we clarified that genetic variation the adenosine A2A receptor ( ADORA2A ), whose activation involved excitotoxicity, may be predisposing factor of AESD. Methods: We analyzed 4 single nucleotide polymorphisms 85 patients The mRNA expression brain...
Abstract Although there are many known Mendelian genes linked to epileptic or developmental and encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique an individual significantly overrepresented in EE/DEE, both the other non-EE/DEE genes. Importantly, enrichment dURVs significant, even subset with diagnostic ( P =...
delta-catenin is a member of the Armadillo repeat family and component adherens junction discovered in two-hybrid assay as bona fide interactor with presenilin-1 (Zhou et al., [1997], NeuroReport 8:2085-2090), protein which carries mutations that cause familial Alzheimer's disease. The expression pattern was mapped between embryonic day 10 (E10) adulthood by Northern blots, situ hybridization immunohistochemistry mouse. In development, dynamically regulated respect to its site expression. It...
Summary Dynamin 1 ( DNM 1) is a large guanosine triphosphatase involved in clathrin‐mediated endocytosis. In recent studies, de novo mutations have been identified five individuals with epileptic encephalopathy. this study, we report two patients early onset encephalopathy possessing DNM1 mutations. Using whole exome sequencing, detected the novel mutation c.127G>A (p.Gly43Ser) patient Lennox‐Gastaut syndrome, and recurrent c.709C>T (p.Arg237Trp) West syndrome. Structural consideration...
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...
Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients CDD and elucidate possible appropriate treatments.We recruited or likely from a cohort approximately 1,100 developmental epileptic encephalopathies, who underwent genetic analysis. We retrospectively reviewed clinical, electroencephalogram, neuroimaging, information.We identified 29 (21...
The number and distribution of neurons in the murine neocortex are altered by loss function p27<sup>Kip1</sup>, a cyclin-dependent kinase inhibitor that regulates cell cycle progression at G<sub>1</sub> phase. We show temporary decline production non-GABAergic projection occurs dorsomedial neopallium p27<sup>Kip1</sup> knockout mouse during mid-term neuronogenesis. It is followed an augmentation neuron later neuronogenesis leading to increased for upper...
Gonadotropin-releasing hormone (GnRH) and its agonist analog (GnRHa) are well known to have luteolytic effects. We previously reported that prolactin (PRL) stimulated matrix metalloproteinase (MMP)-2 activity degrade collagen type IV as a mechanism of structural luteolysis. The effects GnRHa treatment on developed corpora lutea unknown. In this study we assessed the effect GnRH MMP expression induction involution superovulated rats using GnRHa. Pregnant mare serum gonadotropin-human...