Nature Search

Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice

Chd8 knock-in mice modeling human CHD8 duplication exhibit growth retardation, microcephaly, and hyperactive behavior. Here authors show CHD8 overexpression causes abnormal binding to enhancers, leading to disrupted regulation of genes involved in brain development.

Atsuki Kawamura
Kazuki Fujii
Masaaki Nishiyama
ResearchOpen Access26 May 2025
Nature Communications

Volume: 16, P: 1-19
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
Birch reductive arylation by mechanochemical anionic activation of polycyclic aromatic compounds

The Birch reduction, although widely used and effective, suffers from significant limitations in the available nucleophiles, since in most cases only alkyl halides and silyl chlorides are available. Herein, the authors report a Birch reductive arylation by mechanochemical anionic activation using a lithium(0) wire followed by addition of various fluoroarenes.

Yoshifumi Toyama
Akiko Yagi
Hideto Ito
ResearchOpen Access30 May 2025
Nature Communications

Volume: 16, P: 1-11
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
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
Synthesis of [²¹¹At]4-astato-L-phenylalanine by dihydroxyboryl-astatine substitution reaction in aqueous solution

Yoshifumi Shirakami
Tadashi Watabe
Koichi Fukase
ResearchOpen Access21 Jun 2021
Scientific Reports

Volume: 11, P: 1-7
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
Hypergravity and microgravity exhibited reversal effects on the bone and muscle mass in mice

Tsukasa Tominari
Ryota Ichimaru
Masaki Inada
ResearchOpen Access29 Apr 2019
Scientific Reports

Volume: 9, P: 1-10
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
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
A novel risk classification score for malignant ureteral obstruction: a multicenter prospective validation study

Kouji Izumi
Takashi Shima
Atsushi Mizokami
ResearchOpen Access24 Feb 2021
Scientific Reports

Volume: 11, P: 1-9
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
Crystal structures of the human adiponectin receptors

The crystal structures of the human adiponectin receptors AdipoR1 and AdipoR2 are solved at 2.9 and 2.4 Å resolution, respectively; the structural and functional information may aid the development and optimization of adiponectin receptor agonists for the treatment of obesity-related diseases.

Hiroaki Tanabe
Yoshifumi Fujii
Shigeyuki Yokoyama
Research08 Apr 2015
Nature

Volume: 520, P: 312-316
Quantum-critical phase from frustrated magnetism in a strongly correlated metal

A phase of quantum-critical behaviour is observed in a kagome lattice material. This arises from the interplay of strong interactions between electrons, and the frustration that arises both from the interactions and the lattice geometry.

Hengcan Zhao
Jiahao Zhang
Peijie Sun
Research30 Sept 2019
Nature Physics

Volume: 15, P: 1261-1266
Development of a rapid scabies immunodiagnostic assay based on transcriptomic analysis of Sarcoptes scabiei var. nyctereutis

Teruo Akuta
Daisuke Minegishi
Yasuo Ono
ResearchOpen Access19 Mar 2021
Scientific Reports

Volume: 11, P: 1-13
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
Different timing and risk factors of cause-specific pancreas graft loss after simultaneous pancreas kidney transplantation

Yoshito Tomimaru
Shogo Kobayashi
Hidetoshi Eguchi
ResearchOpen Access21 Oct 2022
Scientific Reports

Volume: 12, P: 1-9
The dichotomy in carcinogenesis of the distal esophagus and esophagogastric junction: intestinal-type vs cardiac-type mucosa-associated adenocarcinoma

Elizabeth G Demicco
Alton B Farris III
Mari Mino-Kenudson
Research13 May 2011
Modern Pathology

Volume: 24, P: 1177-1190
SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure

Ryo Matsuura
Atsuko Hiraishi
Eisei Noiri
ResearchOpen Access03 Dec 2020
Scientific Reports

Volume: 10, P: 1-11
Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head

Yuma Sakamoto
Takuaki Yamamoto
Shiro Ikegawa
ResearchOpen Access08 Nov 2017
Scientific Reports

Volume: 7, P: 1-12

Search

Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice

Deciphering state-dependent immune features from multi-layer omics data at single-cell resolution

Birch reductive arylation by mechanochemical anionic activation of polycyclic aromatic compounds

The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force

DOCK2 is involved in the host genetics and biology of severe COVID-19

Blood DNA virome associates with autoimmune diseases and COVID-19

Synthesis of [²¹¹At]4-astato-L-phenylalanine by dihydroxyboryl-astatine substitution reaction in aqueous solution

Mapping the human genetic architecture of COVID-19

Hypergravity and microgravity exhibited reversal effects on the bone and muscle mass in mice

Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity

Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases

A novel risk classification score for malignant ureteral obstruction: a multicenter prospective validation study

A second update on mapping the human genetic architecture of COVID-19

Crystal structures of the human adiponectin receptors

Quantum-critical phase from frustrated magnetism in a strongly correlated metal

Development of a rapid scabies immunodiagnostic assay based on transcriptomic analysis of Sarcoptes scabiei var. nyctereutis

Perinatal outcomes in RhD-negative pregnant women in Japan

Different timing and risk factors of cause-specific pancreas graft loss after simultaneous pancreas kidney transplantation

The dichotomy in carcinogenesis of the distal esophagus and esophagogastric junction: intestinal-type vs cardiac-type mucosa-associated adenocarcinoma

SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure

Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head

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