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Journal of Human Genetics (17)
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Showing 1–50 of 139 results

Advanced filters: Author: Tadashi Yoshida Clear advanced filters

Unique cell lines harbouring both Epstein–Barr virus and adult T-cell leukaemia virus, established from leukaemia patients

Naoki Yamamoto
Tadashi Matsumoto
Yorio Hinuma
Research23 Sept 1982
Nature

Volume: 299, P: 367-369
Glycine Cleavage System in Ketotic Hyperglycinemia: a Reduction of H-Protein Activity

Kiyoshi Hayasaka
Kuniaki Narisawa
Noritake Matsuo
Research01 Jan 1982
Pediatric Research

Volume: 16, P: 5-7
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
Phase Transition Behavior of Nylon-66, Nylon-48, and Blends

Gongzheng Zhang
Takafumi Watanabe
Tadashi Kawai
Research01 Feb 2003
Polymer Journal

Volume: 35, P: 173-177
ANA, a novel member of Tob/BTG1 family, is expressed in the ventricular zone of the developing central nervous system

Yutaka Yoshida
Satoru Matsuda
Tadashi Yamamoto
Research02 Jun 1998
Oncogene

Volume: 16, P: 2687-2693
Periodontitis associated with Porphyromonas gingivalis infection is a risk factor for infertility through uterine hypertrophy

Chiaki Kamei-Nagata
Kazuhiro Omori
Shogo Takashiba
ResearchOpen Access07 Oct 2025
Scientific Reports

Volume: 15, P: 1-15
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
Phosphorylation and high level expression of Fra-2 in v-src transformed cells: a pathway of activation of endogenous AP-1

Masao Murakami
Martha H Sonobe
Hideo Iba
Research22 May 1997
Oncogene

Volume: 14, P: 2435-2444
Mutagenicity of Sarkomycin

YOSHIO NAKAO
YATARO TAZIMA
TADASHI YAMAMOTO
Research29 Dec 1956
Nature

Volume: 178, P: 1466
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
Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor

Toshihiro Ichiki
Patricia A. Labosky
Tadashi lnagami
Research26 Oct 1995
Nature

Volume: 377, P: 748-750
Nuclear localization of Tob is important for regulation of its antiproliferative activity

Junko Kawamura-Tsuzuku
Toru Suzuki
Tadashi Yamamoto
Research05 Jul 2004
Oncogene

Volume: 23, P: 6630-6638
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

This study identifies an altered chromatin conformation associated to a cardiac disorder observed in 7 independent families. A deletion of 2 diverging CTCF binding sites on 4q25 induces TAD fusion and leads to PITX2 expression dysregulation.

Manon Baudic
Hiroshige Murata
Julien Barc
ResearchOpen Access20 Apr 2024
Nature Communications

Volume: 15, P: 1-15
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
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Serum laminin γ2 monomer as a predictive biomarker for hepatocellular carcinoma in patients with chronic hepatitis B virus infection: a retrospective cohort study

Kouki Nio
Tetsuro Shimakami
Taro Yamashita
ResearchOpen Access25 Oct 2024
Scientific Reports

Volume: 14, P: 1-6
Tob2, a novel anti-proliferative Tob/BTG1 family member, associates with a component of the CCR4 transcriptional regulatory complex capable of binding cyclin-dependent kinases

Naoko Ikematsu
Yutaka Yoshida
Tadashi Yamamoto
Research09 Dec 1999
Oncogene

Volume: 18, P: 7432-7441
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
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

Kohei Hamanaka
Atsushi Fujita
Naomichi Matsumoto
ResearchOpen Access26 Aug 2025
npj Genomic Medicine

Volume: 10, P: 1-12
Chd4 choreographs self-antigen expression for central immune tolerance

Takayanagi and colleagues show that the chromatin remodeler Chd4 works with both Fezf2 and Aire to promote promiscuous tissue-restricted antigen expression in medullary thymic epithelial cells, mediating central tolerance in the thymus.

Yoshihiko Tomofuji
Hiroyuki Takaba
Hiroshi Takayanagi
Research29 Jun 2020
Nature Immunology

Volume: 21, P: 892-901
Isolation of A Y chromosomal DNA sequence and its clinical application

Masato Tsukahara
Shinya Matsuura
Tadashi Kajii
Research01 Dec 1990
Japanese journal of human genetics

Volume: 35, P: 331-339
Serum laminin γ2 monomer as a novel diagnostic and prognostic marker for pancreatic ductal adenocarcinoma

Takeshi Terashima
Kouki Nio
Taro Yamashita
ResearchOpen Access14 Jan 2025
BJC Reports

Volume: 3, P: 1-7
Innovative use of a 3-Fr microcatheter for precision guidewire placement with digital single-operator cholangioscopy for pancreaticobiliary drainage (with video)

Akihisa Adachi
Michihiro Yoshida
Hiromi Kataoka
ResearchOpen Access28 Dec 2024
Scientific Reports

Volume: 14, P: 1-10
Enhanced fusogenicity and pathogenicity of SARS-CoV-2 Delta P681R mutation

The P681R mutation in the spike protein renders the Delta variant more pathogenic than prototypic SARS-CoV-2 in infected hamsters, and facilitates spike protein cleavage and enhances viral fusogenicity.

Akatsuki Saito
Takashi Irie
Kei Sato
ResearchOpen Access25 Nov 2021
Nature

Volume: 602, P: 300-306
E3 ubiquitin ligase that recognizes sugar chains

Yukiko Yoshida
Tomoki Chiba
Tadashi Tai
Research25 Jul 2002
Nature

Volume: 418, P: 438-442
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Akira Kinoshita
Takashi Saito
Koh-ichiro Yoshiura
Research01 Sept 2000
Nature Genetics

Volume: 26, P: 19-20
Syntheses and Polymerizations of Alkyl N-(4-Substituted phenyl)itaconamates

Tsutomu Oishi
Minoru Fujimoto
Tadashi Kimura
Research01 Apr 1982
Polymer Journal

Volume: 14, P: 323-326
Rapid detection of a point mutation in thyroid-stimulating hormoneβ-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency

Ryogo Mori
Tomoko Sawai
Kei Sawada
Research01 Dec 1991
Japanese Journal of Human Genetics

Volume: 36, P: 313-316
Clustering of CARMA1 through SH3–GUK domain interactions is required for its activation of NF-κB signalling

Activating mutations in the NF-κB regulator CARMA1 are associated with a form of B-cell lymphoma. Hara et al. show that both physiological and oncogenic CARMA1 signalling can be inhibited by preventing its activation-induced clustering, which is mediated by its SH3 and GUK domains.

Hiromitsu Hara
Tadashi Yokosuka
Takashi Saito
Research20 Jan 2015
Nature Communications

Volume: 6, P: 1-12
Transverse diameter of brainstem infarction is a strong predictor of miserable outcome after mechanical thrombectomy for acute basilar artery occlusion

Yosuke Tajima
Yoichi Yoshida
Yoshinori Higuchi
ResearchOpen Access06 Aug 2024
Scientific Reports

Volume: 14, P: 1-6
Evaluation of therapeutic PD-1 antibodies by an advanced single-molecule imaging system detecting human PD-1 microclusters

Immune checkpoint inhibitors are now routinely used in cancer therapy, however, the dosage and integration into conventional cancer therapy is determined via empirical experience rather than mechanistic rationale. Here authors establish an advanced single-molecule imaging method, by with which they are directly monitoring and evaluating the effect of immune checkpoint inhibitors on T cell signaling.

Wataru Nishi
Ei Wakamatsu
Tadashi Yokosuka
ResearchOpen Access06 Jun 2023
Nature Communications

Volume: 14, P: 1-16
A serum microRNA classifier for the diagnosis of sarcomas of various histological subtypes

Sarcomas are rare malignant tumours of bone and soft tissue whose diagnosis remain difficult. Here, the authors analyse serum samples from over 1000 patients and using separate discovery, training and validation cohorts, identify and validate a 7-microRNA index that distinguishes malignant sarcomas from benign disease.

Naofumi Asano
Juntaro Matsuzaki
Takahiro Ochiya
ResearchOpen Access21 Mar 2019
Nature Communications

Volume: 10, P: 1-10
Integrated exome and RNA sequencing of dedifferentiated liposarcoma

Understanding the genomic features of dedifferentiated liposarcoma (DDLPS) is likely to uncover new options for management. Here, the authors reveal three prognostic groups, and highlight molecular markers associated with malignant transformation.

Makoto Hirata
Naofumi Asano
Koichi Matsuda
ResearchOpen Access12 Dec 2019
Nature Communications

Volume: 10, P: 1-12
Tob negatively regulates NF-κB activation in breast cancer through its association with the TNF receptor complex

Miho Tokumasu
Atsuko Sato
Tadashi Yamamoto
ResearchOpen Access01 Apr 2025
Cancer Gene Therapy

Volume: 32, P: 573-583
Endomorphin-2 and Endomorphin-1 Promote the Extracellular Amount of Accumbal Dopamine via Nonopioid and Mu-Opioid Receptors, Respectively

Hiroko Okutsu
Shu Watanabe
Alexander R Cools
Research20 Jul 2005
Neuropsychopharmacology

Volume: 31, P: 375-383
Chiral symmetry restoration at high matter density observed in pionic atoms

In quantum chromodynamics, the condensation of quark–antiquark pairs breaks the chiral symmetry of vacuum. Experiments with pionic tin atoms demonstrate that the symmetry is partially restored at high densities.

Takahiro Nishi
Kenta Itahashi
Koichi Yoshida
Research23 Mar 2023
Nature Physics

Volume: 19, P: 788-793
Crystal structure of rat biliverdin reductase

Akihiro Kikuchi
Sam-Yong Park
Yoshitsugu Shiro
Research01 Mar 2001
Nature Structural Biology

Volume: 8, P: 221-225
Impact of drainage retinotomy on surgical outcomes of retinal detachment: insights from the Japan-Retinal Detachment Registry

Hisashi Fukuyama
Hiroto Ishikawa
Shin Yamane
ResearchOpen Access02 Apr 2024
Scientific Reports

Volume: 14, P: 1-8
Dissecting the circuit for blindsight to reveal the critical role of pulvinar and superior colliculus

Blindsight refers to visual behaviours that are spared following lesions to the primary visual cortex and is thought to involve pulvinar circuits. Here, the authors report that selective inactivation of the ventral pulvinar or the superior colliculus leads to impairment in visually guided saccades in blindsight.

Masaharu Kinoshita
Rikako Kato
Tadashi Isa
ResearchOpen Access11 Jan 2019
Nature Communications

Volume: 10, P: 1-10
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan

Masayuki Sekine
Takayuki Enomoto
Miyuki Shimoda
Research04 Jan 2022
Journal of Human Genetics

Volume: 67, P: 267-272
Preparation and Properties of Siloxane/Epoxy Organic-Inorganic Hybrid Thin Films, Self-Standing Films, and Bulk Bodies

Takahiro Gunji
Shotaro Itagaki
Ryuichi Aoki
Research20 May 2009
Polymer Journal

Volume: 41, P: 541-546
Signal detection analysis of blindsight in monkeys

Masatoshi Yoshida
Tadashi Isa
ResearchOpen Access29 May 2015
Scientific Reports

Volume: 5, P: 1-11
Gas Permeation Properties of Conducting Polymer/Porous Media Composite Membranes II

Kensuke Kamada
Jun Kamo
Hiroshi Hosokawa
Research01 Jul 1994
Polymer Journal

Volume: 26, P: 833-839
Age-dependent loss of adipose Rubicon promotes metabolic disorders via excess autophagy

Autophagic activity declines with age in several tissues and is linked to aging-associated functional decline and pathologies. Here the authors show that Rubicon, a negative regulator of autophagy, decreases in adipocytes with age, and its loss leads to adipocyte dysfunction via excess autophagic degradation of SRC-1 and TIF2.

Tadashi Yamamuro
Tsuyoshi Kawabata
Tamotsu Yoshimori
ResearchOpen Access18 Aug 2020
Nature Communications

Volume: 11, P: 1-16
Publisher Correction: Integrated exome and RNA sequencing of dedifferentiated liposarcoma

Makoto Hirata
Naofumi Asano
Koichi Matsuda
Amendments and CorrectionsOpen Access19 Feb 2020
Nature Communications

Volume: 11, P: 1
Complete intraureteral stent placement relieves daytime urinary frequency compared with conventional placement in patients with an indwelling ureteral stent: post-hoc analysis of a randomized, controlled trial

Tomoaki Matsuzaki
Takashi Yoshida
Tadashi Matsuda
ResearchOpen Access28 Sept 2020
Scientific Reports

Volume: 10, P: 1-8
A randomized clinical trial evaluating the short-term results of ureteral stent encrustation in urolithiasis patients undergoing ureteroscopy: micro-computed tomography evaluation

Takashi Yoshida
Kuniko Takemoto
Tadashi Matsuda
ResearchOpen Access14 May 2021
Scientific Reports

Volume: 11, P: 1-8
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome

Kiyoshi Yamaguchi
Rika Kasajima
Tsuneo Ikenoue
Research06 May 2021
Journal of Human Genetics

Volume: 66, P: 1053-1060

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