Nature Search

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
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
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

The zinc-finger transcription factor IKAROS is essential for B cell development. Taniuchi, Morio and colleagues identify a human kindred presenting with B cell immunodeficiency that was caused by a heterozygous missense mutation in IKZF3 encoding the related AIOLOS protein. AIOLOS^G159R is a mutant protein that interferes with both wild-type AIOLOS and IKAROS by forming heterodimers that bind to aberrant DNA-binding sites and prevent normal expression of IKAROS-dependent genes.

Motoi Yamashita
Hye Sun Kuehn
Tomohiro Morio
Research21 Jun 2021
Nature Immunology

Volume: 22, P: 893-903
Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

The variability in clinical outcomes of SARS-CoV-2 infection is partly due to deficiencies in production or response to type I interferons (IFN). Here, the authors describe a FIP200-dependent lysosomal degradation pathway, independent of canonical autophagy and type I IFN, that restricts SARS-CoV-2 replication, offering insights into critical COVID-19 pneumonia mechanisms.

Lili Hu
Renee M. van der Sluis
Trine H. Mogensen
ResearchOpen Access27 Nov 2025
Nature Communications

Volume: 16, P: 1-23
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils

Deficiency in the kinase Btk results in X-linked agammaglobulinemia in humans. Morio and colleagues show that Btk confines the adaptor Mal in the cytoplasm in neutrophils to prevent excessive generation of reactive oxygen species, thereby prolonging neutrophil longevity.

Fumiko Honda
Hirotsugu Kano
Tomohiro Morio
Research26 Feb 2012
Nature Immunology

Volume: 13, P: 369-378
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
Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

The molecular heterogeneity of KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) remains poorly characterised. Here, the authors perform multi-omics analysis for 84 ALL patients and suggest 5 distinct subgroups for risk stratification and personalised treatment.’

Tomoya Isobe
Masatoshi Takagi
Junko Takita
ResearchOpen Access30 Aug 2022
Nature Communications

Volume: 13, P: 1-16
A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development

Taniuchi and colleagues describe the generation and phenotype of a mouse model carrying a defective Bcl11b allele encoding a mutant protein corresponding to BCL11B-N441K previously associated with human disease. They further characterize the molecular interactions between the mutant BCL11B protein and other transcription factors involved in early thymocyte development.

Kazuki Okuyama
Motoi Yamashita
Ichiro Taniuchi
Research01 Nov 2024
Nature Immunology

Volume: 25, P: 2284-2296
PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome

Teppei Ohkawa
Akira Nishimura
Masatoshi Takagi
Research02 Aug 2021
Journal of Human Genetics

Volume: 67, P: 51-54
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
Lrig1-expression confers suppressive function to CD4⁺ cells and is essential for averting autoimmunity via the Smad2/3/Foxp3 axis

Regulatory T cells, and to certain extent other T cell subsets, limit the immune response to avoid harmful inflammation and tissue damage. Here authors identify a surface molecule, Lrig1, that is directly responsible for the suppressive function in regulatory T cells and in Il-17-producing helper T cells.

Jae-Seung Moon
Chun-Chang Ho
Sang-Kyou Lee
ResearchOpen Access04 Sept 2023
Nature Communications

Volume: 14, P: 1-16
In vitro generation of functional murine heart organoids via FGF4 and extracellular matrix

Our understanding of the development of the heart has been limited by a lack of in vitro cellular models. Here, the authors treat mouse embryonic stem cell-derived embryoid bodies with laminin-entactin (to mimic the developing microenvironment) and FGF4 to form heart organoids, with atrial and ventricular-like parts.

Jiyoung Lee
Akito Sutani
Fumitoshi Ishino
ResearchOpen Access03 Sept 2020
Nature Communications

Volume: 11, P: 1-18
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
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria

Maho Hatano
Tomohiro Udagawa
Masato Nishioka
ResearchOpen Access01 Dec 2022
Human Genome Variation

Volume: 9, P: 1-3
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

Tomohiro Kohmoto
Atsumi Tsuji
Issei Imoto
ResearchOpen Access07 Apr 2016
Human Genome Variation

Volume: 3, P: 1-3
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
Effect of the cyclic structures of p-tert-butylcalix[n]arenes on a bisoxazoline curing system

Thermal curing reactions of p-tert-butylcalix[n]arenes (Cn: n = 4, 6, and 8) with 1,3-phenylenebis(2-oxazoline) (PBO) were conducted, and the obtained thermosets were characterized. The dynamic mechanical analyses of the thermosets revealed that the glass transition temperature (T_g) increased in the following order: C4/PBO < C8/PBO < C6/PBO. Meanwhile, model reactions indicated that the crosslinking degree increased as the ring size of the calixarene increased. The highest T_g of the C6/PBO thermoset was due to the moderate reactivity and rigidity of the cyclic structure of C6.

Morio Yonekawa
Hajime Kimura
Tomohiro Shimokawaji
Research25 Sept 2024
Polymer Journal

Volume: 57, P: 87-94
Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning

Katsutsugu Umeda
Hiromasa Yabe
Tomohiro Morio
Research07 Dec 2018
Bone Marrow Transplantation

Volume: 54, P: 1227-1236
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
IκBζ regulates T_H17 development by cooperating with ROR nuclear receptors

Interleukin-17-producing helper T (T_H17) cells are a distinct T-cell subset characterized by its role in autoimmune disease. Here it is shown that the development of T_H17 cells requires the transcription factor IκBζ, as well as nuclear receptors of the ROR family. Mice lacking IκBζ have a defect in T_H17 development and are resistant to the induction of experimental autoimmune encephalomyelitis. The study points to some new potential molecular targets for drugs to treat autoimmune disease.

Kazuo Okamoto
Yoshiko Iwai
Hiroshi Takayanagi
Research01 Apr 2010
Nature

Volume: 464, P: 1381-1385
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

Misako Nagatsuma
Kei Takasawa
Tomohiro Morio
Research16 Nov 2018
Journal of Human Genetics

Volume: 64, P: 177-181
Spinal arteriovenous fistula coexisting within a spinal lipoma: report of two cases

Yosuke Horiuchi
Akio Iwanami
Morio Matsumoto
ResearchOpen Access14 Nov 2017
Spinal Cord Series and Cases

Volume: 3, P: 1-7
Targeting Poly(ADP)ribose polymerase in BCR/ABL1-positive cells

Haruka Hiroki
Yuko Ishii
Masatoshi Takagi
ResearchOpen Access10 May 2023
Scientific Reports

Volume: 13, P: 1-10
Impact of obesity on cervical ossification of the posterior longitudinal ligament: a nationwide prospective study

Kanji Mori
Toshitaka Yoshii
Atsushi Okawa
ResearchOpen Access25 May 2022
Scientific Reports

Volume: 12, P: 1-10
Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis

Yusuke Noguchi
Atsuko Taki
Tomohiro Morio
ResearchOpen Access20 Apr 2022
Scientific Reports

Volume: 12, P: 1-11
Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

Atsumi Tsuji-Hosokawa
Kenichi Kashimada
Tomohiro Morio
ResearchOpen Access05 Sept 2018
Scientific Reports

Volume: 8, P: 1-11
Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus

Yohei Matsubara
Tomoki Chiba
Hiroshi Asahara
ResearchOpen Access23 May 2014
Scientific Reports

Volume: 4, P: 1-7
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Ikumi Hori
Takanobu Otomo
Shinji Saitoh
ResearchOpen Access14 Jun 2017
Scientific Reports

Volume: 7, P: 1-11
Human genetic and immunological determinants of critical COVID-19 pneumonia

The COVID Human Genetic Effort examines the molecular, cellular and immunological determinants of the various SARS-CoV-2-related disease manifestations by searching for causal errors of immunity.

Qian Zhang
Paul Bastard
Jean-Laurent Casanova
Reviews28 Jan 2022
Nature

Volume: 603, P: 587-598
Galectin-4 expression is down-regulated in response to autophagy during differentiation of rat trophoblast cells

Tomohiro Arikawa
Shengjun Liao
Hiroki Shoji
ResearchOpen Access30 Aug 2016
Scientific Reports

Volume: 6, P: 1-11
Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Petter Brodin
Giorgio Casari
Jean-Laurent Casanova
Correspondence05 Apr 2022
Nature Medicine

Volume: 28, P: 879-882
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Yuji Takahashi
Hidetoshi Date
Hidehiro Mizusawa
ReviewsOpen Access23 Mar 2022
Journal of Human Genetics

Volume: 67, P: 505-513

Search

Blood DNA virome associates with autoimmune diseases and COVID-19

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

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils

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

Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development

PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome

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

Lrig1-expression confers suppressive function to CD4⁺ cells and is essential for averting autoimmunity via the Smad2/3/Foxp3 axis

In vitro generation of functional murine heart organoids via FGF4 and extracellular matrix

Mapping the human genetic architecture of COVID-19

A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

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

Effect of the cyclic structures of p-tert-butylcalix[n]arenes on a bisoxazoline curing system

Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning

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

IκBζ regulates T_H17 development by cooperating with ROR nuclear receptors

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

Spinal arteriovenous fistula coexisting within a spinal lipoma: report of two cases

Targeting Poly(ADP)ribose polymerase in BCR/ABL1-positive cells

Impact of obesity on cervical ossification of the posterior longitudinal ligament: a nationwide prospective study

Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis

Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Human genetic and immunological determinants of critical COVID-19 pneumonia

Galectin-4 expression is down-regulated in response to autophagy during differentiation of rat trophoblast cells

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

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