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Scientific Reports (32)
Nature Genetics (9)
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Showing 1–50 of 84 results

Advanced filters: Author: Masao Nagasaki Clear advanced filters

Early diagnosis of Alzheimer's?

Masao Kishikawa
Masachika Iseki
Hideharu Fujii
Research02 Jun 1994
Nature

Volume: 369, P: 365-366
Biological Dosimetry in Atomic Bomb Survivors

MASAO S. SASAKI
HISATOSHI MIYATA
Research21 Dec 1968
Nature

Volume: 220, P: 1189-1193
Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution

A single-cell multiomic immune cell atlas from 235 Japanese, including patients with COVID-19 and healthy individuals, linked with host genetics including germline and somatic mutation, plasma proteomics and metagenomics data reveals that immune cells are dynamically regulated in a cell state-dependent manner.

Ryuya Edahiro
Go Sato
Yukinori Okada
ResearchOpen Access28 Jul 2025
Nature Genetics

Volume: 57, P: 1905-1921
Blood DNA virome associates with autoimmune diseases and COVID-19

Analysis of the blood DNA virome in patients with COVID-19 and autoimmune disease associates endogenous HHV-6 (eHHV-6) and high anellovirus load with increased disease risk, most notably for systemic lupus erythematosus. eHHV-6 carriers show a distinct immune response.

Noah Sasa
Shohei Kojima
Yukinori Okada
ResearchOpen Access03 Jan 2025
Nature Genetics

Volume: 57, P: 65-79
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

The Tohoku Medical Megabank Organization establishes a biobank with detailed patient health care and genome information. Here the authors analyse whole-genome sequences of 1,070 Japanese individuals, allowing them to catalogue 21 million single-nucleotide variants including 12 million novel ones.

Masao Nagasaki
Jun Yasuda
Masayuki Yamamoto
ResearchOpen Access21 Aug 2015
Nature Communications

Volume: 6, P: 1-13
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33

Yuki Hitomi
Kazuko Ueno
Minoru Nakamura
ResearchOpen Access14 Jan 2019
Scientific Reports

Volume: 9, P: 1-11
Population-level laterality in foraging finless porpoises

Masao Amano
Yudai Kawano
Hayao Kobayashi
ResearchOpen Access27 Oct 2021
Scientific Reports

Volume: 11, P: 1-7
Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing

Masao Nagasaki
Yoko Kuroki
Masayuki Yamamoto
ResearchOpen Access07 Jun 2019
Human Genome Variation

Volume: 6, P: 1-18
The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force

Genetic mechanisms influencing COVID-19 susceptibility are not well understood. Here, the authors analyzed whole blood RNA-seq data of 465 Japanese individuals with COVID-19, highlighting thousands of fine-mapped variants affecting expression and splicing of genes, as well as the presence of COVID-19 severity-interaction eQTLs.

Qingbo S. Wang
Ryuya Edahiro
Yukinori Okada
ResearchOpen Access22 Aug 2022
Nature Communications

Volume: 13, P: 1-19
DOCK2 is involved in the host genetics and biology of severe COVID-19

A genome-wide association study highlights a variant in DOCK2, which is common in East Asian populations but rare in Europeans, as a host genetic risk factor for severe COVID-19.

Ho Namkoong
Ryuya Edahiro
Yukinori Okada
ResearchOpen Access08 Aug 2022
Nature

Volume: 609, P: 754-760
Integrated molecular analysis of adult T cell leukemia/lymphoma

Seishi Ogawa and colleagues report the results of a large-scale sequencing study of adult T cell leukemia/lymphoma. They find recurrent alterations enriched for T cell receptor/NF-κB signaling, T cell trafficking and other T cell pathways and highlight targets for the development of new therapeutics for this intractable cancer.

Keisuke Kataoka
Yasunobu Nagata
Seishi Ogawa
Research05 Oct 2015
Nature Genetics

Volume: 47, P: 1304-1315
NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population

Nao Nishida
Yoshihiro Aiba
Minoru Nakamura
ResearchOpen Access23 May 2018
Scientific Reports

Volume: 8, P: 1-9
Design and implementation of a hybrid cloud system for large-scale human genomic research

Masao Nagasaki
Yayoi Sekiya
Fumihiko Matsuda
ResearchOpen Access08 Feb 2023
Human Genome Variation

Volume: 10, P: 1-9
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

Gen Sobue, Masao Nagasaki and colleagues report a genome-wide association study for amyotrophic lateral sclerosis (ALS) in a large, multi-ethnic cohort comprising Japanese, Chinese, and European ancestry populations. They find a significant association to variants within the ACSL5 gene and identify novel associations with 4 additional genes using a gene-based approach.

Ryoichi Nakamura
Kazuharu Misawa
Gen Sobue
ResearchOpen Access23 Sept 2020
Communications Biology

Volume: 3, P: 1-9
RAISING is a high-performance method for identifying random transgene integration sites

Integrating RAISING and CLOVA, an effective method for detection and monitoring clonal integration of viruses and viral vectors is presented.

Yusaku Wada
Tomoo Sato
Masumichi Saito
ResearchOpen Access02 Jun 2022
Communications Biology

Volume: 5, P: 1-11
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Shu Tadaka
Fumiki Katsuoka
Kengo Kinoshita
ResearchOpen Access18 Jun 2019
Human Genome Variation

Volume: 6, P: 1-9
Machine learning based characterization of high risk carriers of HTLV-1-associated myelopathy (HAM)

Md Ishtiak Rashid
Junya Sunagawa
Shinji Nakaoka
ResearchOpen Access11 Jul 2025
Scientific Reports

Volume: 15, P: 1-9
Low-latitude mesopelagic nutrient recycling controls productivity and export

To facilitate more accurate long-term projections of primary production and export over oceanic low latitudes (LLs), we identified the first-order importance of the temperature dependence of remineralization of the LL nutrient reservoir, with this serving to enhance LL mesopelagic retention under warming.

Keith B. Rodgers
Olivier Aumont
Ryohei Yamaguchi
Research21 Aug 2024
Nature

Volume: 632, P: 802-807
Understanding of HLA-conferred susceptibility to chronic hepatitis B infection requires HLA genotyping-based association analysis

Nao Nishida
Jun Ohashi
Masashi Mizokami
ResearchOpen Access19 Apr 2016
Scientific Reports

Volume: 6, P: 1-7
rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Yuki Hitomi
Yoshihiro Aiba
Makoto Tsuiji
ResearchOpen Access25 Feb 2021
Scientific Reports

Volume: 11, P: 1-11
Predisposition of HLA-DRB1*04:01/*15 heterozygous genotypes to Japanese mixed connective tissue disease

Shomi Oka
Takashi Higuchi
Shigeto Tohma
ResearchOpen Access15 Jun 2022
Scientific Reports

Volume: 12, P: 1-9
Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases

Youngjune Bhak
Vasilis Raptis
Albert Tenesa
ResearchOpen Access28 Aug 2025
Scientific Reports

Volume: 15, P: 1-16
The genome sequence and structure of rice chromosome 1

Takuji Sasaki
Takashi Matsumoto
Takashi Gojobori
ResearchOpen Access21 Nov 2002
Nature

Volume: 420, P: 312-316
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

Genome-wide association analyses across individuals of East Asian and European ancestries identify new risk loci for inflammatory bowel diseases. A polygenic risk score derived from the combined datasets shows improved prediction accuracy.

Zhanju Liu
Ruize Liu
Hailiang Huang
Research08 May 2023
Nature Genetics

Volume: 55, P: 796-806
Precise immunofluorescence canceling for highly multiplexed imaging to capture specific cell states

Multiplexed imaging to study cellular pathways can be hampered by lack of antibody specificity, especially when assessing signal activation. Here, the authors present Precise Emission Canceling Antibodies (PECAbs), which enable high-specificity sequential imaging and the study of signaling pathways.

Kosuke Tomimatsu
Takeru Fujii
Yasuyuki Ohkawa
ResearchOpen Access08 May 2024
Nature Communications

Volume: 15, P: 1-16
Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity

Peripheral blood mononuclear cells from 73 Japanese patients with coronavirus disease 2019 (COVID-19) and 75 healthy controls were analyzed using single-cell transcriptomics. Combining these data with genotyping data highlights the interplay between host genetics and the immune response in modulating disease severity.

Ryuya Edahiro
Yuya Shirai
Yukinori Okada
ResearchOpen Access24 Apr 2023
Nature Genetics

Volume: 55, P: 753-767
Nanomolar phosphate supply and its recycling drive net community production in the subtropical North Pacific

Primary productivity in the oligotrophic ocean sustains Earth’s ecosystems, but nutrient concentrations are vanishingly low. Here the authors measure nanomolar macronutrient concentrations in the North Pacific and find that net community production is sustained through high rates of phosphorus recycling.

Fuminori Hashihama
Ichiro Yasuda
Masao Ishii
ResearchOpen Access08 Jun 2021
Nature Communications

Volume: 12, P: 1-8
Synthesis and Gas Permeation Behavior of Organosilicon-Containing Poly(p-allylstyrene)s

Yukio Nagasaki
Yasushi Hashimoto
Tetsuya Kimijima
Research01 Jun 1994
Polymer Journal

Volume: 26, P: 745-753
Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis

Yuki Hitomi
Kaname Kojima
Katsushi Tokunaga
ResearchOpen Access06 Jun 2017
Scientific Reports

Volume: 7, P: 1-10
Characterisation of radioiodinated flavonoid derivatives for SPECT imaging of cerebral prion deposits

Takeshi Fuchigami
Yuki Yamashita
Morio Nakayama
ResearchOpen Access16 Dec 2015
Scientific Reports

Volume: 5, P: 1-11
Direct reprogramming of human umbilical vein- and peripheral blood-derived endothelial cells into hepatic progenitor cells

The conditions to induce human hepatic progenitor cells from other cell types are unclear. Here, the authors reprogram human endothelial cells to hepatic progenitor cells by expressing FOXA3, HNF1A and HNF6, capable of giving rise to hepatocytes and cholangiocytes that reconstitute damaged liver tissues on transplantation.

Hiroki Inada
Miyako Udono
Atsushi Suzuki
ResearchOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1-17
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis

Akari Suzuki
Ryo Yamada
Kazuhiko Yamamoto
Research29 Jun 2003
Nature Genetics

Volume: 34, P: 395-402
Frequent pathway mutations of splicing machinery in myelodysplasia

Kenichi Yoshida
Masashi Sanada
Seishi Ogawa
Research11 Sept 2011
Nature

Volume: 478, P: 64-69
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing

Tatsuhiko Tsunoda and Hidewaki Nakagawa report the genome sequence of a Japanese male individual generated with high-throughput sequencing technology. Their analyses reveal a number of novel single nucleotide variants, insertions, deletions and other variants.

Akihiro Fujimoto
Hidewaki Nakagawa
Tatsuhiko Tsunoda
Research24 Oct 2010
Nature Genetics

Volume: 42, P: 931-936
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome

Tomoko Kaneyasu
Seiichi Mori
Seigo Nakamura
ResearchOpen Access12 Jun 2020
npj Breast Cancer

Volume: 6, P: 1-13
iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing

Yumi Yamaguchi-Kabata
Naoki Nariai
Masao Nagasaki
ResearchOpen Access26 Nov 2015
Human Genome Variation

Volume: 2, P: 1-4
Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population

Olivier Gervais
Kazuko Ueno
Masao Nagasaki
ResearchOpen Access09 Apr 2021
European Journal of Human Genetics

Volume: 29, P: 1282-1291
Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia

Maxat Kulmanov
Saeideh Ashouri
Yosuke Kawai
ResearchOpen Access12 Aug 2025
Scientific Data

Volume: 12, P: 1-11
Rapid isolation of viral integration site reveals frequent integration of HTLV-1 into expressed loci

Tatsuhiko Ozawa
Takahiro Itoyama
Masaharu Isobe
Research01 Mar 2004
Journal of Human Genetics

Volume: 49, P: 154-165
Comparison of drug sensitivity and genotypes of clinically isolated strains of levofloxacin-resistant Streptococcus pneumoniae obtained from Okinawa Island, the Japanese main island and Hong Kong

Satoko Sunagawa
Jiro Fujita
Tsukasa Uno
Research18 May 2011
The Journal of Antibiotics

Volume: 64, P: 539-545
Predictors of early remission of proteinuria in adult patients with minimal change disease: a retrospective cohort study

Ryohei Yamamoto
Enyu Imai
Hiroyuki Komatsu
ResearchOpen Access13 Jun 2022
Scientific Reports

Volume: 12, P: 1-12
An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn’s Disease in Japanese Populations

Yoichi Kakuta
Ryo Ichikawa
Atsushi Masamune
ResearchOpen Access24 Jun 2020
Scientific Reports

Volume: 10, P: 1-10
Genome-wide association study identified new susceptible genetic variants in HLA class I region for hepatitis B virus-related hepatocellular carcinoma

Hiromi Sawai
Nao Nishida
Katsushi Tokunaga
ResearchOpen Access21 May 2018
Scientific Reports

Volume: 8, P: 1-8
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals

Yumi Yamaguchi-Kabata
Jun Yasuda
Masayuki Yamamoto
Research01 Dec 2017
Journal of Human Genetics

Volume: 63, P: 213-230
Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn’s disease and leprosy

Yonghu Sun
Astrid Irwanto
Jianjun Liu
ResearchOpen Access10 Aug 2016
Scientific Reports

Volume: 6, P: 1-10
Genome-wide association and multi-omics analyses provide insights into the disease mechanisms of central serous chorioretinopathy

Yuki Mori
Elon H. C. van Dijk
Akitaka Tsujikawa
ResearchOpen Access17 Mar 2025
Scientific Reports

Volume: 15, P: 1-13
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

Hidewaki Nakagawa and colleagues report the whole-genome sequencing of 27 hepatocellular carcinomas. They find that chromatin regulators were mutated in approximately 50% of tumors.

Akihiro Fujimoto
Yasushi Totoki
Hidewaki Nakagawa
Research27 May 2012
Nature Genetics

Volume: 44, P: 760-764
XRCC3 polymorphism is associated with hypertension-induced left ventricular hypertrophy

Andi Ariyandy
Chiemi Sakai
Takafumi Ishida
Research06 Apr 2018
Hypertension Research

Volume: 41, P: 426-434
dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project

Soichi Ogishima
Satoshi Nagaie
Masayuki Yamamoto
ResearchOpen Access10 Dec 2021
Human Genome Variation

Volume: 8, P: 1-8
HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel

Yen-Yen Wang
Takahiro Mimori
Masao Nagasaki
ResearchOpen Access19 Jun 2019
Human Genome Variation

Volume: 6, P: 1-5

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