A5082917975- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Hepatocellular Carcinoma Treatment and Prognosis
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Cholangiocarcinoma and Gallbladder Cancer Studies
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- RNA Research and Splicing
- Liver Disease Diagnosis and Treatment
- Hedgehog Signaling Pathway Studies
- Cellular transport and secretion
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Fetal and Pediatric Neurological Disorders
- Epilepsy research and treatment
- Connective tissue disorders research
- Pancreatic and Hepatic Oncology Research
- Genetic and Kidney Cyst Diseases
- Ion Transport and Channel Regulation
Hamamatsu University School of Medicine
2016-2025
Yokohama City University
2014-2024
Gifu University
2024
Ogaki Municipal Hospital
2024
National Kyushu Medical Center
2013-2022
Showa University
2019-2022
Hyogo Medical University
2022
National Hospital Organization
2007-2022
Nishi Niigata Chuo National Hospital
2022
Adult Congenital Heart Association
2020
RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim to clarify the correlation between genotype and MMD phenotype.The entire coding region of sequenced in 204 patients with MMD, corresponding variants were checked 62 pairs parents, 13 mothers 4 fathers patients, 283 normal controls. Clinical information collected. Genotype-phenotype correlations statistically analyzed.The c.14576G>A variant identified 95.1% familial 79.2% sporadic 1.8% controls, thus...
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies prioritizing causative variants from many candidates to explain the disease phenotype still far being established, because population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic 1208 Japanese individuals through collaborative effort,...
Summary Purpose KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy ( EOEE ). In this study, we aimed to delineate the clinical spectrum of associated mutation. Methods A total 239 , including 51 cases Ohtahara syndrome and 104 West syndrome, were analyzed by high‐resolution melting HRM ) analysis whole‐exome sequencing. Detailed information electroencephalography EEG brain magnetic resonance imaging MRI...
Objective Focal cortical dysplasia (FCD) type IIb is a malformation characterized by architectural abnormalities, dysmorphic neurons, and balloon cells. It has been suggested that FCDs are caused somatic mutations in cells the developing brain. Here, we explore possible involvement of FCD IIb. Methods We collected total 24 blood‐brain paired samples with FCD, including 13 individuals IIb, 5 IIa, 6 I. performed whole‐exome sequencing using from 9 subjects. Somatic MTOR were identified further...
Highlights•Exome sequencing of Japanese ASD trios supports "de novo paradigm"•Integrative analyses were conducted by combining with published DNM data•Integrative confirm and extend ASD-related molecular brain networks•Integrative identify 61 significant genes as well drug candidatesSummaryRecent studies have established important roles de mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs 262 probands origin the paradigm" ASDs across ethnicities. Based on this...
The growth rates of recurrent hepatocellular carcinoma (HCC) after orthotopic liver transplantation (OLTX) were estimated by calculating the tumor doubling time (TDT) in 20 patients. mean TDT, calculated multiple measurement size, was 44.3 ± 11.3 days (mean standard error) 12 patients with pulmonary metastasis (range, 10 to 161 days) and 37.6 8.9 7 65 5 allograft recurrence. TDT as serum alpha-fetoprotein (AFP) levels 6 37.3 10.0 84 days). obtained from control subjects HCC who treated...
Kabuki syndrome (KS) is a rare congenital anomaly characterized by unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as causative gene. On the basis of published reports, 55-80% KS cases can be explained abnormalities. Recently, de novo deletion KDM6A has been reported in three patients, but point mutations have never found. this study, we investigated 32 patients without an mutation. We two nonsense one 3-bp...
<h3>Objective:</h3> We aimed to investigate the possible association between <i>SCN2A</i> mutations and early-onset epileptic encephalopathies (EOEEs). <h3>Methods:</h3> recruited a total of 328 patients with EOEE, including 67 Ohtahara syndrome (OS) 150 West syndrome. were examined using high resolution melt analysis or whole exome sequencing. <h3>Results:</h3> found 14 novel missense in 15 patients: 9 OS cases (13.4%), 1 (0.67%), 5 111 unclassified EOEEs (4.5%). Twelve confirmed as de...
Sonic hedgehog (Shh) function is essential for patterning and cell fate specification, particularly in ventral regions of the central nervous system. It also a crucial mitogen cerebellar granule neuron precursors important maintenance stem niche postnatal telencephalon. Although it has been reported that Shh expressed developing dorsal telencephalon, functions this region are unclear, detailed characterization mRNA transcripts situ not demonstrated. To clarify roles signaling pallium...
Abstract Kabuki syndrome is a congenital anomaly characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third lower eyelids, prominent digit pads, skeletal visceral abnormalities. Mutations in MLL2 KDM6A cause syndrome. We screened 81 individuals with for mutations these genes conventional methods (n = 58) and/or targeted resequencing 45) or whole exome sequencing 5). identified mutation 50...
Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, muscular features. In this study, we aimed to clarify the phenotypic spectrum incidence of mutations.We screened for 61 patients 10 schizencephaly, which may be similarly caused by disturbed supply leading degeneration, but can distinguished depending on time insult.COL4A1 were identified 15 (21%, 5 schizencephaly), who showed a variety findings, including...
De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven de heterozygous mutations, which were found our comprehensive genetic analysis (target capture or whole-exome sequencing) for early onset encephalopathies (EOEEs).A total of 163 EOEEs without known genes, including 6 malignant migrating partial seizures infancy (MMPSI), and 60 unclassified EOEEs, analyzed by target (28 samples) sequencing (135 samples).We identified 7 patients:...
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder involving skin and joint laxity fragility. A new type of EDS, similar to kyphoscoliosis but without lysyl hydroxylase deficiency, has been investigated. We have identified homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases compound heterozygous mutations four sporadic cases. encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3'-phosphoadenosine...
Summary Purpose: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy suppression‐burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects mutations, and examine their biologic aspects. Methods: analyzed 29 54 cases cryptogenic EIEE West syndrome, respectively, as a second cohort. RNA splicing lymphoblastoid cells from subject harboring c.663 + 5G>A mutation. Expression protein missense examined neuroblastoma2A...
In the male germline, neonatal prospermatogonia give rise to spermatogonia, which include stem cell population (undifferentiated spermatogonia) that supports continuous spermatogenesis in adults. Although levels of DNA methyltransferases change dynamically and early postnatal germ cells, detailed genome-wide methylation profiles these cells during formation differentiation have not been reported. To understand regulation spermatogonial differentiation, we examined gene expression dynamics...
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits the switch/sucrose non-fermenting (SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, ARID1B. In this study, we examined 49 newly recruited CSS-suspected...