A5040080420- Epigenetics and DNA Methylation
- EEG and Brain-Computer Interfaces
- Renal and related cancers
- Autoimmune Neurological Disorders and Treatments
- Metabolism and Genetic Disorders
- Herpesvirus Infections and Treatments
- Bacterial Infections and Vaccines
- Kawasaki Disease and Coronary Complications
- Mechanical Circulatory Support Devices
- Scoliosis diagnosis and treatment
- Acute Ischemic Stroke Management
- Infectious Encephalopathies and Encephalitis
- Neurological and metabolic disorders
- Genetic Syndromes and Imprinting
- Attention Deficit Hyperactivity Disorder
- RNA modifications and cancer
- Streptococcal Infections and Treatments
- Cancer-related gene regulation
- Optical Imaging and Spectroscopy Techniques
- Retinal Diseases and Treatments
- Functional Brain Connectivity Studies
- Peroxisome Proliferator-Activated Receptors
- Cerebral Palsy and Movement Disorders
- Genomics and Chromatin Dynamics
- Neural and Behavioral Psychology Studies
Japanese Red Cross Fukuoka Hospital
2017-2019
Kyushu University
2000-2017
Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). and are core components the polycomb repressive complex 2 (PRC2), which possesses histone methyltransferase activity catalyzes trimethylation H3 at lysine 27. Here, we analyzed eight probands with clinically suspected WS whole-exome sequencing identified three mutations: 25.4-kb deletion partially involving CUL1...
Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 PAX6 at chromosome 11p13. Deletion BDNF known eto be associated with hyperphagia obesity in both humans animal models; however, neuroendocrine epigenetic profiles individuals WAGR remain to determined. We report 5-year-old girl the typical phenotype syndrome. She showed profound delays physical growth, motor cognitive development without...
Evaluation of motor function, such as gait ability, can accurately predict the subsequent occurrence disability in older adults. There are no reports standard error mean (SEM) or minimal detectable change (MDC) with respect to Japanese long-term care insurance-certified individuals. The purpose this study was investigate values preferred gait, fast and timed up go (TUG) test. This included 46 participants using insurance system. (age 86.5 ± 6.6 years, 12 men, 34 women). duration three were...