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Scientific Reports (24)
Journal of Human Genetics (7)
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Showing 1–50 of 65 results

Advanced filters: Author: Mariko Sasaki Clear advanced filters

Clinical implications of systolic blood pressure for diabetic retinopathy across HbA1c levels in a Japanese population

Mariko Sasaki
Yoshiko Ofuji
Hiroyasu Iso
ResearchOpen Access23 Jan 2026
Scientific Reports

P: 1-7
Dissection of the polygenic architecture of neuronal Aβ production using a large sample of individual iPSC lines derived from Alzheimer’s disease patients

Using more than 100 independent iPSC lines derived from patients with Alzheimer’s disease, the authors discovered loci associated with the neuronal production of amyloid β and confirmed their influence using RNA interference.

Takayuki Kondo
Norikazu Hara
Haruhisa Inoue
Research17 Feb 2022
Nature Aging

Volume: 2, P: 125-139
Subchondral bone strength of the metacarpal head and its related factors in patients with rheumatoid arthritis

Rika Kakutani
Hiroto Yoshida
Hajime Ishikawa
ResearchOpen Access12 Dec 2025
Scientific Reports

Volume: 16, P: 1-11
A complex mosaic with tdic(13;18) (p11;p11), +13p-, +18p-, r(13)etc. In a male infant

Mariko Uehara
Mitsushiro Kida
Research01 Mar 1986
Japanese Journal of Human Genetics

Volume: 31, P: 27-35
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
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
Relationship between nerve fiber layer defect and the presence of epiretinal membrane in a Japanese population: The JPHC-NEXT Eye Study

Atsuro Uchida
Mariko Sasaki
Hiroyasu Iso
ResearchOpen Access21 Jan 2020
Scientific Reports

Volume: 10, P: 1-5
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
Incidence and prognosis of taxane-induced macular edema: a retrospective study from the Japan Clinical REtina Study Group (J-CREST)

Hiroki Tsujinaka
Sho Imoto
Nahoko Ogata
ResearchOpen Access22 Aug 2024
Scientific Reports

Volume: 14, P: 1-8
Prevalence of common aneuploidy in twin pregnancies

Akiko Konishi
Osamu Samura
Haruhiko Sago
ResearchOpen Access01 Jan 2022
Journal of Human Genetics

Volume: 67, P: 261-265
Suppression of serum-induced c-jun expression by activated Ki-ras in human colon cancer cells

Masanori Furuse
Senji Shirasawa
Takehiko Sasazuki
Research01 Sept 1997
Japanese Journal of Human Genetics

Volume: 42, P: 409-416
Targeting dependency on a paralog pair of CBP/p300 against de-repression of KREMEN2 in SMARCB1-deficient cancers

Loss of SMARCB1 has been identified in a number of cancers. Here, the authors report a paralog pair of CBP and p300 as a synthetic lethal target in SMARCB1-deficient cancers. Simultaneous inhibitors of CBP/p300 could be therapeutic agents for SMARCB1-deficient cancers.

Mariko Sasaki
Daiki Kato
Hideaki Ogiwara
ResearchOpen Access05 Jun 2024
Nature Communications

Volume: 15, P: 1-24
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
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank

Aye Ko Ko Minn
Motomichi Matsuzaki
Gen Tamiya
ResearchOpen Access03 Apr 2025
Journal of Human Genetics

Volume: 70, P: 287-296
Characterizing rare and low-frequency height-associated variants in the Japanese population

Thousands of genetic loci are known to associate with human height, but these are mainly based on studies in European ancestry populations. Here, Akiyama et al. construct a genotype reference panel for the Japanese population followed by GWAS and report 573 height associated variants in 191,787 Japanese.

Masato Akiyama
Kazuyoshi Ishigaki
Yoichiro Kamatani
ResearchOpen Access27 Sept 2019
Nature Communications

Volume: 10, P: 1-11
Somatic inflammatory gene mutations in human ulcerative colitis epithelium

Whole-exome sequencing of colon organoids derived from patients with ulcerative colitis identifies somatic mutations in components of the IL-17 signalling pathway, which may confer a growth advantage to cells under inflammatory conditions.

Kosaku Nanki
Masayuki Fujii
Toshiro Sato
Research18 Dec 2019
Nature

Volume: 577, P: 254-259
Myopia, corneal endothelial cell density and morphology in a Japanese population-based cross-sectional study: the JPHC-NEXT Eye Study

Naohiko Aketa
Miki Uchino
Hiroyasu Iso
ResearchOpen Access18 Mar 2021
Scientific Reports

Volume: 11, P: 1-8
Comparison of radiation dermatitis between hypofractionated and conventionally fractionated postoperative radiotherapy: objective, longitudinal assessment of skin color

Hideya Yamazaki
Tadashi Takenaka
Kei Yamada
ResearchOpen Access17 Aug 2018
Scientific Reports

Volume: 8, P: 1-8
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Mio Tsuchiya
Takahiro Yamada
Shinji Kosugi
Research13 Jul 2020
Journal of Human Genetics

Volume: 65, P: 1045-1053
Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies

Shun Kodate
Mitsuharu Sato
Kengo Kinoshita
ResearchOpen Access16 May 2025
Scientific Reports

Volume: 15, P: 1-11
Genetic engineering of yellow betalain pigments beyond the species barrier

Takashi Nakatsuka
Eri Yamada
Masahiro Nishihara
ResearchOpen Access12 Jun 2013
Scientific Reports

Volume: 3, P: 1-7
Higher longitudinal brain white matter atrophy rate in aquaporin-4 IgG-positive NMOSD compared with healthy controls

Hiroki Masuda
Masahiro Mori
Satoshi Kuwabara
ResearchOpen Access03 Aug 2023
Scientific Reports

Volume: 13, P: 1-14
Genome destabilization by homologous recombination in the germ line

Genomic architecture can be markedly affected during meiosis by non-allelic homologous recombination (NAHR), which generates chromosomal rearrangements that can lead to genome instability. Studies in yeast have provided insights into the mechanisms of NAHR and the strategies used to restrain it.

Mariko Sasaki
Julian Lange
Scott Keeney
Reviews18 Feb 2010
Nature Reviews Molecular Cell Biology

Volume: 11, P: 182-195
Attenuated fusogenicity and pathogenicity of SARS-CoV-2 Omicron variant

In vitro studies in human cell lines and in vivo studies in a hamster model show that the SARS-CoV-2 Omicron variant is less pathogenic than both the Delta variant and an ancestral strain of SARS-CoV-2.

Rigel Suzuki
Daichi Yamasoba
Kei Sato
ResearchOpen Access01 Feb 2022
Nature

Volume: 603, P: 700-705
Author Correction: Characterizing rare and low-frequency height-associated variants in the Japanese population

Masato Akiyama
Kazuyoshi Ishigaki
Yoichiro Kamatani
Amendments and CorrectionsOpen Access09 Mar 2020
Nature Communications

Volume: 11, P: 1
Anti-K-ras ribozyme induces growth inhibition and increased chemosensitivity in human colon cancer cells

Tadao Funato
Tomonori Ishii
Takeshi Sasaki
Research24 May 2000
Cancer Gene Therapy

Volume: 7, P: 495-500
Semi-in vitro detection of Mg²⁺-dependent DNase that specifically digest mitochondrial nucleoids in the zygote of Physarum polycephalum

Naoki Urakawa
Satoru Nakamura
Narie Sasaki
ResearchOpen Access22 Feb 2022
Scientific Reports

Volume: 12, P: 1-10
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Genome-wide analysis in 212,453 Japanese individuals identifies loci associated with 42 diseases. Comparative analysis with European populations identifies East Asian–specific associations.

Kazuyoshi Ishigaki
Masato Akiyama
Yoichiro Kamatani
Research08 Jun 2020
Nature Genetics

Volume: 52, P: 669-679
Inflammatory cytokine interleukin-18 prevents murine miscarriage by inducing appropriate inflammation

Yumi Horii
Hajime Ino
Rimpei Morita
ResearchOpen Access21 Aug 2025
Scientific Reports

Volume: 15, P: 1-14
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

Hirotaka Matsuo
Kimiyoshi Ichida
Nariyoshi Shinomiya
ResearchOpen Access18 Jun 2013
Scientific Reports

Volume: 3, P: 1-4
A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan

Junko Yotsumoto
Akihiko Sekizawa
Norimasa Sawaguchi
Research08 Sept 2016
Journal of Human Genetics

Volume: 61, P: 995-1001
Effects of the Interaction between Interleukin-6 −634C/G Polymorphism and Smoking on Serum C-Reactive Protein Concentrations

Yasuaki Saijo
Eiji Yoshioka
Reiko Kishi
Research01 Jul 2007
Hypertension Research

Volume: 30, P: 593-599
Metabolic Syndrome, C-Reactive Protein and Increased Arterial Stiffness in Japanese Subjects

Yasuaki Saijo
Eiji Yoshioka
Reiko Kishi
Research01 Aug 2006
Hypertension Research

Volume: 29, P: 589-596
Evaluation of the Cardio-Ankle Vascular Index, a New Indicator of Arterial Stiffness Independent of Blood Pressure, in Obesity and Metabolic Syndrome

Noriko Satoh
Akira Shimatsu
Yoshihiro Ogawa
Research01 Oct 2008
Hypertension Research

Volume: 31, P: 1921-1930
Identification of six new genetic loci associated with atrial fibrillation in the Japanese population

Kaoru Ito, Yoichiro Kamatani, Toshihiro Tanaka and colleagues report a genome-wide association study for atrial fibrillation in the Japanese population. They identify six new loci, five of which are not associated with atrial fibrillation in individuals of European ancestry, suggesting that they may be specific to the Japanese population.

Siew-Kee Low
Atsushi Takahashi
Toshihiro Tanaka
Research17 Apr 2017
Nature Genetics

Volume: 49, P: 953-958
Vision preservation during retinal inflammation by anthocyanin-rich bilberry extract: cellular and molecular mechanism

Seiji Miyake
Noriko Takahashi
Yoko Ozawa
Research05 Sept 2011
Laboratory Investigation

Volume: 92, P: 102-109
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population

Genome-wide association analyses identify 28 new susceptibility loci for type 2 diabetes in the Japanese population. Transethnic comparisons highlight the key role of beta cell dysfunction in type 2 diabetes across different ancestry groups.

Ken Suzuki
Masato Akiyama
Takashi Kadowaki
Research04 Feb 2019
Nature Genetics

Volume: 51, P: 379-386
Associations between fatty acid intake and diabetic retinopathy in a Japanese population

Mariko Sasaki
Kenya Yuki
Hiroyasu Iso
ResearchOpen Access09 Aug 2023
Scientific Reports

Volume: 13, P: 1-7
Correlations of survival with progression-free survival, response rate, and disease control rate in advanced biliary tract cancer: a meta-analysis of randomised trials of first-line chemotherapy

Toshikazu Moriwaki
Yoshiyuki Yamamoto
Ichinosuke Hyodo
ResearchOpen Access31 Mar 2016
British Journal of Cancer

Volume: 114, P: 881-888
Building the world’s first truly global medical foundation model

Yih Chung Tham
Jocelyn Hui Lin Goh
Dinah Zur
Correspondence08 Sept 2025
Nature Medicine

Volume: 31, P: 3580-3585
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
Human protein factory for converting the transcriptome into an in vitro–expressed proteome

A collection of 33,275 human Gateway entry clones and complementary in vitro protein expression methodologies are described that allow proteome-scale production of human proteins. This 'human protein factory' was validated by expression of 13,364 human proteins and assessment of activity in a variety of assays.

Naoki Goshima
Yoshifumi Kawamura
Nobuo Nomura
Research23 Nov 2008
Nature Methods

Volume: 5, P: 1011-1017
Perinatal outcomes in RhD-negative pregnant women in Japan

Ken Takahashi
Susumu Yoshida
Osamu Samura
ResearchOpen Access22 Mar 2025
Scientific Reports

Volume: 15, P: 1-10
Targeting USP8 causes synthetic lethality through degradation of FGFR2 in ARID1A-deficient ovarian clear cell carcinoma

Ryosuke Saito
Makoto Fukushima
Hideaki Ogiwara
ResearchOpen Access12 Mar 2025
npj Precision Oncology

Volume: 9, P: 1-12
Distinct leukemogenic mechanism of acute promyelocytic leukemia based on genomic structure of PML::RARα

Mariko Minami
Teppei Sakoda
Yoshikane Kikushige
Research20 Feb 2025
Leukemia

Volume: 39, P: 844-853
Efficacy of glutathione inhibitor eprenetapopt against the vulnerability of glutathione metabolism in SMARCA4-, SMARCB1- and PBRM1-deficient cancer cells

Mariko Sasaki
Hideaki Ogiwara
ResearchOpen Access28 Dec 2024
Scientific Reports

Volume: 14, P: 1-11
Identification of nanaomycin A and its analogs by a newly established screening method for functional inhibitors of the type IX secretion system in Porphyromonas gingivalis

Yuko Sasaki
Takehiro Matsuo
Mikio Shoji
Research22 Nov 2024
The Journal of Antibiotics

Volume: 78, P: 90-105
A deep learning approach to predict differentiation outcomes in hypothalamic-pituitary organoids

A deep learning model predicts gene expression and subsequent adrenocorticotropic hormone secretory function in the differentiation process of hypothalamic–pituitary organoids.

Tomoyoshi Asano
Hidetaka Suga
Hiroshi Arima
ResearchOpen Access06 Dec 2024
Communications Biology

Volume: 7, P: 1-10
Loss of Circulating Hepatitis C Virus in Children Who Developed a Persistent Carrier State after Mother-to-Baby Transmission

Nobuhiko Sasaki
Akira Matsui
Hiroaki Okamoto
Research01 Sept 1997
Pediatric Research

Volume: 42, P: 263-267

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