A5040573427- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- RNA modifications and cancer
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- Eosinophilic Disorders and Syndromes
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Cerebrospinal fluid and hydrocephalus
- Chromosomal and Genetic Variations
- Ion channel regulation and function
- Chronic Disease Management Strategies
- Child Nutrition and Feeding Issues
- CRISPR and Genetic Engineering
- EEG and Brain-Computer Interfaces
- Congenital Anomalies and Fetal Surgery
Kyoto Prefectural University of Medicine
2016-2025
University Hospital Kyoto Prefectural University of Medicine
2022
North Medical Center
2017-2019
Kyoto University
2009
Akashi Municipal City Hospital
2008
Osaka University
2005-2008
Medical Genetics Center
2008
Memorial Hospital of South Bend
2002-2004
Matsushita Memorial Hospital
2003
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by congenital malformation of the great toes and progressive heterotopic bone formation in muscle tissue. Recently, mutation involving single amino acid substitution morphogenetic protein (BMP) type I receptor, ALK2, was identified patients with FOP. We report here that identical mutation, R206H, observed 19 Japanese sporadic This mutant ALK2(R206H), activates BMP signaling without ligand binding....
<h3>Background</h3> Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors 150 or more kinds of proteins to the human cell surface. There are at least 26 genes involved in biosynthesis and remodelling GPI anchored (GPI-APs). Recently, inherited deficiencies (IGDs) were reported which cause intellectual disability often accompanied by epilepsy, coarse facial features multiple anomalies vary severity depending upon degree defect and/or step pathway affected gene. <h3>Methods...
Hypoglycosylation and reduced laminin-binding activity of α-dystroglycan are common characteristics dystroglycanopathy, which is a group congenital limb-girdle muscular dystrophies. Fukuyama-type dystrophy (FCMD), caused by mutation in the fukutin gene, severe form dystroglycanopathy. A retrotransposal insertion seen almost all cases FCMD. To better understand molecular pathogenesis dystroglycanopathies to explore therapeutic strategies, we generated knock-in mice carrying mouse ortholog....
To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases.We performed mutation analyses sodium-channel gene SCN1A two Japanese brothers with clinical features SMEI and their parents, who had no history febrile epileptic seizures.Each patient showed nucleotide changes (c.[730G>T; 735G>T; 736A>T]) coding exon 6 that led to a truncation channel protein. Their father mutations, but mother same subpopulation lymphocytes.The maternal mosaicism explains...
Callosal injury in preterm infants is a key factor affecting neurodevelopmental outcome. We investigated the characteristics of corpus callosum (CC) without apparent white matter lesions. studied 58 divided into three groups 23-25, 26-29, and 30-33 wk GA. Diffusion tensor imaging (DTI) was obtained at term-equivalent age. The CC parcellated genu, body, isthmus, splenium. measured fractional anisotropy (FA) diffusion coefficient (ADC) each subdivision using tractography manual region interest...
Syntaxin-binding protein 1 (STXBP1) is essential for synaptic vesicle exocytosis. Mutations of its encoding gene, STXBP1, are among the most frequent genetic causes epileptic encephalopathies. However, precise pathophysiology STXBP1 haploinsufficiency has not been elucidated. Using patient-derived induced pluripotent stem cells (iPSCs), we aimed to establish a neuronal model and determine pathophysiologic basis encephalopathy. We generated iPSC lines from patient with Ohtahara syndrome (OS)...
Down syndrome (DS) is the most prevalent chromosomal abnormality. Early-onset dementia with pathology of Alzheimer's disease (AD) frequently develops in DS. Reliable blood biomarkers are needed to support diagnosis for DS, since positron emission tomography or cerebrospinal fluid sampling burdensome, particularly patients Plasma t-tau one established AD, suggesting potential value as a biomarker The aim this study was assess and compare plasma levels adults DS an age-matched control...
Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) increasingly recognized as an important etiology of many human diseases including epilepsy. Whole‐exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations has recently been applied CNVs. Here, we analyzed 294 families with epilepsy using WES, focused on 168 no causative single nucleotide variants in known epilepsy‐associated genes...
Abstract Syntaxin-binding protein 1 (STXBP1) is a presynaptic that plays important roles in synaptic vesicle docking and fusion. STXBP1 haploinsufficiency causes encephalopathy (STXBP1-E), which encompasses neurological disturbances including epilepsy, neurodevelopmental disorders, movement disorders. Most patients with STXBP1-E present regression disorders adulthood, highlighting the importance of deeper understanding neurodegenerative aspects STXBP1-E. An vitro study proposed an...
BCL11A encodes a zinc finger protein that is highly expressed in hematopoietic tissues and the brain, known to function as transcriptional repressor of fetal hemoglobin (HbF). Recently, de novo variants have been reported individuals with intellectual disability syndrome without epilepsy. In this study, we performed whole-exome sequencing 302 patients epileptic encephalopathies (EEs), identified 2 novel variants, c.577delC (p.His193Metfs*3) c.2351A>C (p.Lys784Thr). Both shared major physical...
People with Down syndrome (DS) are at high risk of developing Alzheimer disease (AD) aging. The diagnosis and treatment trials hampered by a lack reliable blood biomarkers. Plasma neurofilament light chain (NfL) is one the established biomarkers AD, suggesting that it may be useful as an indicator dementia in DS patients. aims this study were: 1) to examine whether plasma levels NfL patients correlated decreased adaptive behavior scores year after sample collection, 2) compare adults...
Abstract Syntaxin-binding protein 1 (STXBP1; also called MUNC18–1), encoded by STXBP1, is an essential component of the molecular machinery that controls synaptic vesicle docking and fusion. De novo pathogenic variants STXBP1 cause a complex set neurological disturbances, namely encephalopathy (STXBP1-E) includes epilepsy, neurodevelopmental disorders neurodegeneration. Several animal studies have suggested contribution GABAergic dysfunction in STXBP1-E pathogenesis. However,...