A5040080420- Epigenetics and DNA Methylation
- EEG and Brain-Computer Interfaces
- Renal and related cancers
- CNS Lymphoma Diagnosis and Treatment
- RNA modifications and cancer
- Bacterial Infections and Vaccines
- Autoimmune Neurological Disorders and Treatments
- Acute Ischemic Stroke Management
- Attention Deficit Hyperactivity Disorder
- Mechanical Circulatory Support Devices
- Genetic Syndromes and Imprinting
- Metabolism and Genetic Disorders
- Peroxisome Proliferator-Activated Receptors
- Kawasaki Disease and Coronary Complications
- Herpesvirus Infections and Treatments
- Cerebral Palsy and Movement Disorders
- Infectious Encephalopathies and Encephalitis
- Multiple Sclerosis Research Studies
- Balance, Gait, and Falls Prevention
- Retinal Imaging and Analysis
- Cardiac Valve Diseases and Treatments
- Neural and Behavioral Psychology Studies
- Neurological and metabolic disorders
- Streptococcal Infections and Treatments
- Cancer-related gene regulation
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...