A5064500893- Tuberous Sclerosis Complex Research
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Histiocytic Disorders and Treatments
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Genomics and Rare Diseases
- RNA modifications and cancer
- Polyomavirus and related diseases
- Molecular Biology Techniques and Applications
- Tumors and Oncological Cases
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Immunotherapy and Immune Responses
- Cancer-related molecular mechanisms research
- Cancer Immunotherapy and Biomarkers
- Metabolism and Genetic Disorders
- Autism Spectrum Disorder Research
- Neurofibromatosis and Schwannoma Cases
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- RNA regulation and disease
- Hedgehog Signaling Pathway Studies
- Immune Cell Function and Interaction
Kanazawa Medical University Hospital
2016-2025
Kanazawa Medical University
2016-2025
Nagasaki University
2024
Sasebo City General Hospital
2024
Tokyo Women's Medical University
2023
Tokyo Medical University
2023
Tokyo Medical University Hospital
2023
Yokohama Sakae Kyosai Hospital
2023
Kanazawa University
2005-2016
Harvard University
2005
Comprehensive genomic profiling (CGP) is increasingly used as a clinical laboratory test and being applied to cancer treatment; however, standardization external quality assessments (EQA) have not been fully developed. This study performed cost-effective EQA proficiency tests (PT) for CGP testing among multiple institutions those belong the working group of Japan Association Clinical Laboratory Science (JACLS). revealed that preanalytical processes, such derived nucleic acids (NA) extraction...
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds cases are sporadic and appear to represent new mutations. With cloning two causative genes, TSC1 TSC2 it now possible analyze both genes in TSC patients identify germline Here we report mutational analysis entire coding region 126 unrelated patients, including 40 familial 86 cases, single-stranded conformational polymorphism (SSCP)...
Approximately half of autism spectrum disorder (ASD) individual suffer from comorbid intellectual disabilities (ID). Oxytocin (OXT) receptors are highly expressed in temporal lobe structures and likely to play a modulatory role excitatory/inhibitory balance, at least based on animal model findings. Thus, it is feasible that the representative group Kanner type ASD subjects OXT could have beneficial effect social communication interaction. The aim this pilot study was investigate feasibility...
We evaluated denaturing high pressure liquid chromatography (DHPLC) as a scanning method for mutation detection in TSC2 , and compared it to conformation‐sensitive gel electrophoresis (CSGE) single‐stranded conformation polymorphism analysis (SSCP). The first 20 exons of were amplified from 84 TSC patients screened initially by CSGE then DHPLC. Optimization DHPLC each exon was carried out design primers with minimum variation the melting temperature amplicon, titration both elution gradient...
mRNA sequencing is a powerful technique, which used to investigate the transcriptome status of gene interest, such as its transcription level and splicing variants. Presently, several RNA (RNA-Seq) methods have been developed; however, relative advantage each method has remained unknown. Here we three commercially available RNA-Seq library preparation kits; traditional (TruSeq), in addition full-length double-stranded cDNA (SMARTer TeloPrime) advantages disadvantages these approaches...
DNA methylation of tumor suppressor genes in cancer is known to be a mechanism for silencing gene expression, but much remains unknown about its extent, degree, and rela-tionship somatic variants at the sequence level. In this study, we comprehensively analyzed all regions across genome major genes, APC, TP53, SMAD4, mismatch repair colorectal using novel next-generation sequencing-based analysis method. The Targeted Methyl Landscape (TML) shows that hypermethylation patterns these are more...
Hypohidrotic ectodermal dysplasia (HED) is a rare disease. Patients with HED present sparse hair on the head, dysplastic teeth and anhidrosis since childhood, along atopic dermatitis-like skin manifestations. We report 20-year-old male patient who was successfully treated dupilumab. Genetic analysis identified splicing mutation in EDA gene, NG_009809.2 (NM_001399.5):c.793 + 3A>C r.742_793del p.Pro248Ilefs Ter15, which has never been reported before. The subject presented to our...
Ohdo syndrome Say-Barver-Biesecker-Young-Simpson (SBBYS) variant is a rare autosomal dominant disorder characterized mainly by intellectual disability, developmental delays, contractures of the knees and hips contractures, thyroid dysfunction, dysmorphic appearance. The SBBYS caused heterozygous loss function mutation in KAT6B gene. peripheral blood mononuclear cells from patient carrying frameshift gene were reprogrammed using CytoTune-iPS2.0 Sendai Reprogramming Kit. causes abnormal...
DNA methylation of tumor suppressor genes in cancer is known to be a mechanism for silencing gene expression, but much remains unknown about its extent and relationship somatic variants at the sequence level. In this study, we comprehensively analyzed all regions across genome major genes, APC, TP53, SMAD4, mismatch repair colorectal using novel next-generation sequencing-based analysis method. The Targeted Methyl Landscape (TML) shows that hypermethylation patterns these are more complex...
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis. The caused loss-of-function mutation in the MED12 gene on X chromosome. peripheral blood mononuclear cells from patient carrying missense were reprogrammed using CytoTune-iPS2.0 Sendai Reprogramming Kit. KMUGMCi009-A cell line was derived brother KMUGMCi010 same mutation. causes abnormal protein variant. established human induced...
ABSTRACT Loss‐of‐function mutations of AVPR2 and L1CAM result in nephrogenic diabetes insipidus (NDI) L1 syndrome. These diseases are inherited an X‐linked recessive manner. Females with heterozygous variants can be affected owing to skewed X‐chromosome inactivation (XCI). A 3‐year‐old girl normal development was presented polydipsia polyuria, diagnosed NDI through improper response water restriction desmopressin administration. targeted genome capture sequencing for X chromosome confirmed...
RNA sequencing (RNA-Seq) is a powerful technique for the quantification of transcripts and analysis alternative splicing. Previously, our laboratory developed targeted long-amplicon (rLAS) method, which has advantage allowing deep specific transcripts. The computational tools analyzing RNA-Seq data have boosted splicing research by detecting quantifying events. However, performance these not yet been investigated rLAS. Here, we evaluated four (MAJIQ, rMATS, MISO, SplAdder) using samples with...
Human memory (CD45RO + ) CD4 T cells can be distinguished into two subpopulations on the basis of expression lymph node homing receptor, L‐selectin (CD62L). In a prior study we showed that human L‐selectin‐positive T‐helper (Th) promote maturation IgG‐ and IgA‐producing by naive B cells. To further elucidate contribution to B‐cell differentiation, with or without were evaluated for production cytokines participate in regulation immunoglobulin production. It was found produce mainly...
Autism spectrum disorder (ASD) is often described as a of aberrant neural connectivity and/or hemispheric lateralization. Although it important to study the pathophysiology developing ASD cortex, physiological brain in young children with under conscious conditions has not yet been described. Magnetoencephalography (MEG) noninvasive imaging technique that practical for use children. MEG produces reference-free signal and is, therefore, an ideal tool computing coherence between two distant...
Tuberous sclerosis complex, an autosomal dominant disease caused by mutations in either TSC1 orTSC2, is characterized the development of hamartomas a variety organs. The proteins encoded andTSC2, hamartin and tuberin, respectively, associate with each other forming tight complex. Here we show that binds neurofilament light chain it possible to recover hamartin-tuberin complex over rod domain spanning amino acids 93–156 affinity precipitation. Homologous domains intermediate filaments such as...
Magnetoencephalography (MEG) is used to measure the auditory evoked magnetic field (AEF), which reflects language-related performance. In young children, however, simultaneous quantification of bilateral auditory-evoked response during binaural hearing difficult using conventional adult-sized MEG systems. Recently, a child-customised device has facilitated acquisition bi-hemispheric recordings, even in children. Using device, we previously reported that performance was reflected strength...
Abstract A subset of individuals with autism spectrum disorder (ASD) performs more proficiently on certain visual tasks than may be predicted by their general cognitive performances. However, in younger children ASD (aged 5 to 7), preserved ability these and the neurophysiological correlates are not well documented. In present study, we used a custom child-sized magnetoencephalography system demonstrated that reasoning task was associated rightward lateralisation connectivity between...