Explanipedia

Accurate, sensitive, and efficient chromatin accessibility quantification at target loci using UNIChro-seq Open

Michihiro Kono, Hiroaki Hatano, Kenichiro Asahara, M Nakano, Reza Bagherzadeh , et al. · 2025

Recent progress in statistical and experimental fine mapping of disease risk variants prompts us to focus on specific target loci for functional investigation. However, current genetics is hindered by a limited toolbox for target-loci anal…

Relationship between Motor Cognitive Risk Syndrome and Health-related Quality of Life in Community-dwelling Older People: A Cross-Sectional Study Open

Noriaki KOTOOKA, Kensuke Matsuda, Takashi Ariie, Hideo Kaneko, Yoshio Takano , et al. · 2025

Blood DNA virome associates with autoimmune diseases and COVID-19 Open

Noah Sasa, Shohei Kojima, Rie Koide, Takanori Hasegawa, Ho Namkoong , et al. · 2025

Relationship Between One-Leg Standing and Foot Sole Sensation Following Short-Term Immobilization of a Unilateral Lower Extremity Open

T. Ikeda, Shinichiro Oka, Naoki Nomura, Akari Suzuki, Kensuke Matsuda · 2024

Our results suggest that short-term movement restriction induces acute changes in center of pressure (COP) movement and foot sensitivity. However, the COP movement was not associated with foot sensation, indicating that another factor may …

Constrained Open Chromatin Regions Reveal Functional Elements Shaping Human Traits Open

Kohei Tomizuka, Masaru Koido, Akari Suzuki, Soichiro Yoshino, Nao Tanaka , et al. · 2024

Open chromatin regions (OCRs) define cell-type-specific regulatory elements across the genome, yet their functional significance varies, making it challenging to pinpoint biologically essential regions. Here, we introduce CAMBUS (Chromatin…

Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues Open

Yoshihiko Tomofuji, Ryuya Edahiro, Kyuto Sonehara, Yuya Shirai, Kian Hong Kock , et al. · 2024

Differences in cough strength, respiratory function, and physical performance in older adults with and without low swallowing function in the repetitive saliva swallowing test Open

Hideo Kaneko, Akari Suzuki, Yoshiharu NAGAI, Jun Horie · 2024

[Purpose] In older adults, the risk of aspiration pneumonia increases because of coexisting factors such as age-related decline in swallowing function, inefficient cough, reduced respiratory function, and poor physical performance. This st…

A single-cell atlas of transcribed<i>cis</i>-regulatory elements in the human genome Open

Jonathan Moody, Tsukasa Kouno, Miki Kojima, Ikuko Koya, Julio Leon , et al. · 2023

Summary Transcribed cis-regulatory elements (tCREs), such as promoters and enhancers, are fundamental to modulate gene expression and define cell identity. The detailed mapping of tCREs at single-cell resolution is essential for understand…

Quantification of the escape from X chromosome inactivation with the million cell-scale human single-cell omics datasets reveals heterogeneity of escape across cell types and tissues Open

Yoshihiko Tomofuji, Ryuya Edahiro, Yuya Shirai, Kian Hong Kock, Kyuto Sonehara , et al. · 2023

One of the two X chromosomes of females is silenced through X chromosome inactivation (XCI) to compensate for the difference in the dosage between sexes. Among the X-linked genes, several genes escape from XCI, which could contribute to th…

Short-Term Cast Immobilization of a Unilateral Lower Extremity and Physical Inactivity Induce Postural Instability during Standing in Healthy Young Men Open

T. Ikeda, Shinichiro Oka, Junya Tokuhiro, Akari Suzuki, Kensuke Matsuda · 2023

Previous studies have reported an increased postural sway after short-term unilateral lower limb movement restriction, even in healthy subjects. However, the associations of motion limitation have not been fully established. The question o…

GWAS for Systemic Sclerosis Identified six novel susceptibility loci including penetrating Fcγ-Receptor Region Open

Yuki Ishikawa, Nao Tanaka, Yoshihide Asano, Masanari Kodera, Yuichiro Shirai , et al. · 2023

We conducted a Japanese GWAS for systemic sclerosis (SSc) comprising 1,428 cases and 112,599 controls, the largest Asian GWAS for SSc ever, and identified three novel signals. The lead SNP in FCGR/FCRL region had a strong effect size (OR 2…

Supplementary Material for: A case of mesangial proliferative nephritis caused by slow cryoglobulin Open

S. Hashimoto, Naoya Okamoto, T. Maoka, Rie Yamamoto, Shin‐ichi Araki , et al. · 2023

The patient was a woman in her 60s. She was found to have proteinuria on a health checkup. She did not have any particular subjective symptoms, and no definitive diagnosis was made, despite serological findings indicative of immune abnorma…

Immune Isoform Atlas: Landscape of alternative splicing in human immune cells Open

Jun Inamo, Akari Suzuki, Mahoko Takahashi Ueda, Kensuke Yamaguchi, Hiroshi Nishida , et al. · 2022

Summary Alternative splicing events are a major causal mechanism for complex traits, but they have been understudied due to the limitation of short-read sequencing. Here, we generated a comprehensive full-length isoform annotation of human…

Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci Open

Kensuke Yamaguchi, Kazuyoshi Ishigaki, Akari Suzuki, Yumi Tsuchida, Haruka Tsuchiya , et al. · 2022

Splicing QTL analysis focusing on coding sequences reveals pathogenicity of disease susceptibility loci Open

Kensuke Yamaguchi, Kazuyoshi Ishigaki, Akari Suzuki, Yumi Tsuchida, Haruka Tsuchiya , et al. · 2022

Splicing QTL (sQTL) are one of the major causal mechanisms in GWAS loci, but their role in disease pathogenesis is poorly understood. One reason is the huge complexity of alternative splicing events producing many unknown isoforms. Here, w…

Gender Differences in Life-space Mobility-associated Factors and Structures in Community-dwelling Older People Open

Kensuke Matsuda, Takashi Ariie, Ryota Okoba, Nozomi HAMACHI, Akari Suzuki , et al. · 2022

This study clarified the gender differences in factors influencing LSM and the underlying structure of LSM mediation by these factors. Therefore, gender differences should be considered when planning interventions aimed at improving the LS…

Trans-ancestry genome-wide association study identifies novel genetic mechanisms in rheumatoid arthritis Open

Kazuyoshi Ishigaki, Saori Sakaue, Chikashi Terao, Yang Luo, Kyuto Sonehara , et al. · 2021

Trans-ancestry genetic research promises to improve power to detect genetic signals, fine-mapping resolution, and performances of polygenic risk score (PRS). We here present a large-scale genome-wide association study (GWAS) of rheumatoid …

Immune cell multi-omics analysis reveals contribution of oxidative phosphorylation to B cell functions and organ damage of lupus Open

Yusuke Takeshima, Yukiko Iwasaki, M Nakano, Yuta Narushima, Mineto Ota , et al. · 2021

Objective Systemic lupus erythematosus (SLE) is the prototypical systemic autoimmune disease, with a poor long-term prognosis. The type I interferon (IFN) signature, a prominent feature of SLE, is not an ideal therapeutic target or outcome…

Functional genetics for studying the human immune system Open

Kazuhiko Yamamoto, Akari Suzuki, Matteo M. Guerrini · 2021

Although small numbers of immune-mediated diseases are inherited due to rare genetic mutations, most are multifactorial diseases caused by multiple elements including genetic and environmental factors. In the case of autoimmune diseases, m…

Profiling of transcribed<i>cis</i>-regulatory elements in single cells Open

Jonathan Moody, Tsukasa Kouno, Akari Suzuki, Youtaro Shibayama, Chikashi Terao , et al. · 2021

Profiling of cis -regulatory elements (CREs, mostly promoters and enhancers) in single cells allows the interrogation of the cell-type and cell-state-specific contexts of gene regulation and genetic predisposition to diseases. Here we demo…

Association of Cough Peak Flow with Chest and Abdominal Wall Mobility in Older Adults Open

Hideo Kaneko, Akari Suzuki · 2021

〔目的〕本研究の目的は地域在住高齢者における咳嗽時最大呼気流量と胸腹部可動性の関連を明らかにすること．〔対象と方法〕地域在住高齢者188名（男性63名，女性125名）を対象に咳嗽時最大呼気流量，胸腹部可動性として呼吸運動評価スケールによる上部胸郭・下部胸郭・腹部スケール値，呼吸機能として努力性肺活量，一秒率，最大吸気圧，最大呼気圧を測定した．〔結果〕男女の比較では，年齢，Body Mass Index，上部胸郭スケール値を除き，女性が有意な低値を示した．重回帰分析において咳…

Meta-analysis of 208,370 East Asians identifies 113 genomic loci and yields new non-immune cell relevant biological insights for systemic lupus erythematosus Open

Xianyong Yin, Kwang-Woo Kim, Hiroyuki Suetsugu, So‐Young Bang, Leilei Wen , et al. · 2020

Systemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with nearly 100 susceptibility loci 1-8 . Nevertheless, these loci only partially explain SLE heritability and provide limited biological insight. We report th…

Microbiota-derived butyrate limits the autoimmune response by promoting the differentiation of follicular regulatory T cells Open

Daisuke Takahashi, Naomi Hoshina, Yuma Kabumoto, Yuichi Maeda, Akari Suzuki , et al. · 2020

This work was supported by AMED-Crest (16gm1010004h0101, 17gm1010004h0102, 18gm1010004h0103, and 19gm1010004s0104 to KH), the Japan Society for the Promotion of Science (JP17KT0055, JP16H01369, and JP18H04680 to KH; JP17K15734 to DT), Keio…

Chromosomal alterations among age-related haematopoietic clones in Japan Open

Chikashi Terao, Akari Suzuki, Yukihide Momozawa, Masato Akiyama, Kazuyoshi Ishigaki , et al. · 2020

Peptidylarginine Deiminase 4 Promotes the Renal Infiltration of Neutrophils and Exacerbates the TLR7 Agonist-Induced Lupus Mice Open

Norio Hanata, Hirofumi Shoda, Hiroaki Hatano, Yasuo Nagafuchi, Toshihiko Komai , et al. · 2020

Peptidylarginine deiminase 4 (PAD4), encoded by PADI4, plays critical roles in the immune system; however, its contribution to the pathogenesis of lupus nephritis remains controversial. The pathological roles of PAD4 were investigat…

THU0225 INTEGRATIVE PLASMA METABOLOME AND TRANSCRIPTOME ANALYSIS REVEALED THE IMPORTANCE OF HISTIDINE HOMEOSTASIS IN SLE PATHOGENESIS WITH POTENTIAL FOR IMPROVED SLE PATIENTS STRATIFICATION Open

Yasuhiko Iwasaki, Yusuke Takeshima, M Nakano, Masao Ôta, Yasuo Nagafuchi , et al. · 2020

Effect of a Voluntary Cough Intensity Improvement Program for Community-dwelling Elderly Open

Akari Suzuki, Hideo Kaneko · 2020

〔目的〕地域在住高齢者における4週間の咳嗽力改善プログラムの効果を検証すること．〔対象と方法〕地域在住高齢者34名を対象とし，咳嗽力改善プログラムを行う介入群17名と行わない対照群17名に分けた．介入群には自宅で咳嗽力改善プログラム（ハーフカットポール上背臥位，呼気筋トレーニング，咳嗽力の確認）を週5回以上，4週間実施させた．介入前後に咳嗽力（咳嗽時最大呼気流量）と肺機能，呼吸筋力，胸腹部可動性を測定した．〔結果〕介入群は介入後に咳嗽時最大呼気流量と最大吸気圧が有意に増大し…

Parsing multiomics landscape of activated synovial fibroblasts highlights drug targets linked to genetic risk of rheumatoid arthritis Open

Haruka Tsuchiya, Mineto Ota, Shuji Sumitomo, Kazuyoshi Ishigaki, Akari Suzuki , et al. · 2019

Objectives Synovial fibroblasts (SFs) produce a variety of pathogenic molecules in the inflamed synovium of rheumatoid arthritis (RA). We aimed to gain insight into the pathogenic mechanisms of SFs through elucidating the genetic contribut…

Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases Open

Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, Atsushi Takahashi, Eiryo Kawakami , et al. · 2019

INTRODUCTORY PARAGRAPH The overwhelming majority of participants in current genetic studies are of European ancestry 1–3 , limiting our genetic understanding of complex disease in non-European populations. To address this, we aimed to eluc…

THU0220 PEPTIDYLARGININE DEIMINASE 4 DEFICIENCY AMELIORATED A MURINE MODEL OF LUPUS BY REDUCING NEUTROPHIL MIGRATION TO THE KIDNEY Open

Norio Hanata, Hirofumi Shoda, Hiroaki Hatano, Yasuo Nagafuchi, Toshihiko Komai , et al. · 2019

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