Masao Nagasaki
A5025220924- Gene Regulatory Network Analysis
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Liver Diseases and Immunity
- Inflammatory Bowel Disease
- Liver Disease Diagnosis and Treatment
- Genomics and Phylogenetic Studies
- Microbial Metabolic Engineering and Bioproduction
- Genetic Associations and Epidemiology
- Adipokines, Inflammation, and Metabolic Diseases
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Pediatric Hepatobiliary Diseases and Treatments
- DNA and Biological Computing
- RNA Research and Splicing
- Lung Cancer Treatments and Mutations
- Acute Myeloid Leukemia Research
- Cardiovascular Disease and Adiposity
- Helicobacter pylori-related gastroenterology studies
- Epigenetics and DNA Methylation
- Immunodeficiency and Autoimmune Disorders
- Adipose Tissue and Metabolism
- Molecular Biology Techniques and Applications
Kyushu University
2023-2025
Kyoto University
2019-2025
National Cerebral and Cardiovascular Center
2025
Tohoku Medical Megabank Organization
2015-2024
Tohoku University
2014-2023
Sakakibara Hospital
2004-2023
Center for Genomic Science
2023
Toshiba (Japan)
2022
National Institute of Information and Communications Technology
2022
The University of Tokyo
2007-2020
The expansion of adipose tissue mass seen in obesity involves both hyperplasia and hypertrophy adipocytes. However, little is known about how adipocytes, adipocyte precursors, blood vessels, stromal cells interact with one another to achieve adipogenesis.We have developed a confocal microscopy-based method three-dimensional visualization intact living that enabled us simultaneously evaluate angiogenesis adipogenesis db/db mice.We found differentiation takes place within cell clusters (which...
Abstract The Tohoku Medical Megabank Organization reports the whole-genome sequences of 1,070 healthy Japanese individuals and construction a population reference panel (1KJPN). Here we identify through this high-coverage sequencing (32.4 × on average), 21.2 million, including 12 million novel, single-nucleotide variants (SNVs) at an estimated false discovery rate <1.0%. This detailed analysis detected signatures for purifying selection regulatory elements as well coding regions. We also...
The Great East Japan Earthquake (GEJE) and resulting tsunami of March 11, 2011 gave rise to devastating damage on the Pacific coast Tohoku region. Medical Megabank Project (TMM), which is being conducted by University Organization (ToMMo) Iwate (IMM), has been launched realize creative reconstruction solve medical problems in aftermath this disaster. We started two prospective cohort studies Miyagi Prefectures: a population-based adult study, TMM Community-Based Cohort Study (TMM CommCohort...
Mitochondrial disorders have the highest incidence among congenital metabolic characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic genetic heterogeneity. Mutations about 1,500 nuclear encoded mitochondrial proteins may cause dysfunction energy production disorders. More than 250 genes that been reported to date. However exact diagnosis for patients still remained largely unknown. To reveal this heterogeneity, we...
Intravital visualization of thrombopoiesis revealed that formation proplatelets, which are cytoplasmic protrusions in bone marrow megakaryocytes (MKs), is dominant the steady state. However, it was unclear whether this only path to platelet biogenesis. We have identified an alternative MK rupture, entails rapid fragmentation and release much larger numbers platelets, primarily into blood vessels, morphologically temporally different than typical FasL-induced apoptosis. Serum levels...
The first step towards realizing personalized healthcare is to catalog the genetic variations in a population. Since dissemination of individual-level genomic information strictly controlled, it will be useful construct population-level allele frequency panels with easy-to-use interfaces. In Tohoku Medical Megabank Project, we sequenced nearly 4000 individuals from Japanese population and constructed an panel 3552 after removing related samples. called 3.5KJPNv2. It was by using standard...
To assess physiological and pathophysiological events that involve dynamic interplay between multiple cell types, real-time, in vivo analysis is necessary. We developed a technique based on confocal laser microscopy enabled us to analyze compare the 3-dimensional structures, cellular dynamics, vascular function within mouse lean obese adipose tissue with high spatiotemporal resolution. found increased leukocyte-EC-platelet interaction microcirculation of visceral ob/ob high-fat diet–induced...
Purpose To identify stage I lung adenocarcinoma patients with a poor prognosis who will benefit from adjuvant therapy. Patients and Methods Whole gene expression profiles were obtained at 19 time points over 48-hour course human primary epithelial cells that stimulated epidermal growth factor (EGF) in the presence or absence of clinically used EGF receptor tyrosine kinase (RTK)-specific inhibitor, gefitinib. The data subjected to mathematical simulation using State Space Model (SSM)....
The Tohoku Medical Megabank Organization constructed the reference panel (referred to as 1KJPN panel), which contains >20 million single nucleotide polymorphisms (SNPs), from whole-genome sequence data 1070 Japanese individuals. largest number of haplotypes ancestry date. Here, panel, we designed a novel custom-made SNP array, named Japonica is suitable for imputation array 659 253 SNPs, including tag SNPs imputation, Y chromosome and mitochondria, related previously reported genome-wide...
Background: We established a community-based cohort study to assess the long-term impact of Great East Japan Earthquake on disaster victims and gene-environment interactions incidence major diseases, such as cancer cardiovascular diseases.
Background & AimsThere is still a risk for hepatocellular carcinoma (HCC) development after eradication of hepatitis C virus (HCV) infection with antiviral agents. We investigated genetic factors associated the HCC in patients sustained virologic response (SVR) to treatment chronic HCV infection.MethodsWe obtained genomic DNA from 457 Japan SVR interferon-based 2007 through 2015. conducted genome-wide association study (GWAS), followed by replication analysis 79 candidate single nucleotide...
The integrative Japanese Genome Variation Database (iJGVD; http://ijgvd.megabank.tohoku.ac.jp/) provides genomic variation data detected by whole-genome sequencing (WGS) of individuals. Specifically, the database contains variants WGS 1,070 individuals who participated in a genome cohort study Tohoku Medical Megabank Project. In first release, iJGVD includes >4,300,000 autosomal single nucleotide (SNVs) whose minor allele frequencies are >5.0%.
Despite NUDT15 variants showing significant association with thiopurine-induced adverse events (AEs) in Asians, it remains unclear which of or whether additional genetic should be tested to predict AEs. To clarify the best pharmacogenetic test used clinically, we performed studies and haplotypes AEs, genome-wide study (GWAS) discover variants, ROC analysis select model severe Overall, 2630 patients inflammatory bowel disease (IBD) were enrolled genotyped for codon 139; 1291 treated...
Abstract Ovarian clear cell carcinoma (OCCC) is the most refractory subtype of ovarian cancer and more prevalent in Japanese than Caucasians (25% 5% all cancer, respectively). The aim this study to discover genomic alterations that may cause OCCC effective molecular targets for chemotherapy. Paired DNAs 48 tissues corresponding noncancerous were extracted from formalin‐fixed, paraffin embedded specimens collected between 2007 2015 at Tohoku University Hospital. All underwent exome sequencing...
Human leucocyte antigen (HLA) genes play an important role in determining the outcome of organ transplantation and are linked to many human diseases. Because diversity polymorphisms HLA loci, typing at high resolution is challenging even with whole-genome sequencing data. We have developed a computational tool, HLA-VBSeq, estimate most probable alleles full (8-digit) from sequence HLA-VBSeq simultaneously optimizes read alignments allele sequences abundance reads on by variational Bayesian...