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Journal of Human Genetics (19)
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Showing 1–50 of 51 results

Advanced filters: Author: Tohru Miyazaki Clear advanced filters

Transgenesis by adenovirus-mediated gene transfer into mouse zona-free eggs

Tohru Tsukui
Yumi Kanegae
Yutaka Toyoda
Research01 Aug 1996
Nature Biotechnology

Volume: 14, P: 982-985
The Concentration Dependence of the Polymer–Solvent Interaction Parameter for Polystyrene–Methylcyclohexane System

Kenji Kamide
Ken Sugamiya
Yukio Miyazaki
Research01 Jan 1980
Polymer Journal

Volume: 12, P: 67-69
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
Hard magnetic ferrite with a gigantic coercivity and high frequency millimetre wave rotation

Permanent magnets based on magnetic ferrites such as Fe₃O₄ and Fe₂O₃ are used in a wide range of applications. This study demonstrates that introducing rhodium into nanoparticles consisting of the ε phase of Fe₂O₃gives rise to a very high coercivity.

Asuka Namai
Marie Yoshikiyo
Shin-ichi Ohkoshi
ResearchOpen Access04 Sept 2012
Nature Communications

Volume: 3, P: 1-6
Partial trisomy for 19q due to paternal 17/19 reciprocal translocation

Harumichi Madokoro
Shozo Ohdo
Ken-ichi Ohba
Research01 Mar 1988
Japanese journal of human genetics

Volume: 33, P: 61-65
Partial trisomy for 7p due to maternal balanced translocation

Shozo Ohdo
Kaoru Suzumori
Kunio Hayakawa
Research01 Dec 1983
Japanese journal of human genetics

Volume: 28, P: 297-300
Association of congenital heart disease, blepharoptosis, and short stature

Tohru Sonoda
Shozo Ohdo
Kunio Hayakawa
Research01 Dec 1989
Japanese journal of human genetics

Volume: 34, P: 291-296
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)

Tohru Sonoda
Kenji Kawaguchi
Shozo Ohdo
Research01 Jun 1989
Japanese journal of human genetics

Volume: 34, P: 129-134
9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

Tohru Sonoda
Ken-ichi Ohba
Koji Sameshima
Research01 Mar 1991
Japanese journal of human genetics

Volume: 36, P: 111-116
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
Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki
Kiyoshi Imaizumi
Naomichi Matsumoto
Research18 Mar 2002
Nature Genetics

Volume: 30, P: 365-366
Familial X;Y translocation in a malformed male infant and his mother

Shozo Ohdo
Kiyomi Yamada
Ken-ichi Ohba
Research01 Sept 1988
Japanese journal of human genetics

Volume: 33, P: 377-384
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
Inhibition of gastric inhibitory polypeptide signaling prevents obesity

Kazumasa Miyawaki
Yuichiro Yamada
Yutaka Seino
Research17 Jun 2002
Nature Medicine

Volume: 8, P: 738-742
Association of visceral fat area with early-stage locomotive syndrome across various age groups: a cross-sectional study

Tadashi Miyazaki
Naoki Ozato
Yoshinori Tamada
ResearchOpen Access26 Oct 2024
Scientific Reports

Volume: 14, P: 1-8
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
Development of risk-score model in patients with negative surgical margin after robot-assisted radical prostatectomy

Yuta Yamada
Yoichi Fujii
Haruki Kume
ResearchOpen Access31 Mar 2024
Scientific Reports

Volume: 14, P: 1-9
The Capability of Neonatal Leukocytes to Produce IL-6 on Stimulation Assessed by Whole Blood Culture

Akihiro Yachie
Nobuhiko Takano
Noboru Taniguchi
Research01 Mar 1990
Pediatric Research

Volume: 27, P: 227-233
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
Tissue Inhibitor of Metalloproteinase-3 Plays Important Roles in the Kidney Following Unilateral Ureteral Obstruction

Hidenobu Kawamoto
Osamu Yasuda
Nobuyo Maeda
Research01 Apr 2006
Hypertension Research

Volume: 29, P: 285-294
CLK-dependent exon recognition and conjoined gene formation revealed with a novel small molecule inhibitor

The phosphorylation of serine/arginine-rich proteins by CDC-like kinase is a central regulatory mechanism for RNA splicing reactions. Here, the authors synthesize a novel small molecule CLK inhibitor and map CLK-responsive alternative splicing events and discover an effect on conjoined gene transcription.

Tyler Funnell
Shinya Tasaki
Samuel Aparicio
ResearchOpen Access23 Feb 2017
Nature Communications

Volume: 8, P: 1-16
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
Mepenzolate bromide displays beneficial effects in a mouse model of chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is a serious respiratory disease that is resistant to many forms of treatment. Tanake et al.screen compounds from a library of medicines and find that mepenzolate bromide reduces inflammatory responses and improves respiration in a mouse model of COPD.

Ken-Ichiro Tanaka
Tomoaki Ishihara
Tohru Mizushima
Research05 Nov 2013
Nature Communications

Volume: 4, P: 1-13
Structure of endothelin ET_B receptor–G_i complex in a conformation stabilized by unique NPxxL motif

Tani et al. present the cryo-EM structure of the endothelin type B receptor (ETBR) in complex with the Gi protein, emphasizing the movements of transmembrane helix 7 during ETBR activation. The study underscores the crucial role of the NPxxL motif in stabilizing the receptor's active state and organizing the Gi protein binding site, enhancing our understanding of GPCR activation and aiding therapeutic development.

Kazutoshi Tani
Saori Maki-Yonekura
Tomoko Doi
ResearchOpen Access16 Oct 2024
Communications Biology

Volume: 7, P: 1-13
Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population

Kikuko Hotta
Michihiro Nakamura
Yusuke Nakamura
Research23 Oct 2009
Journal of Human Genetics

Volume: 54, P: 727-731
Computed tomography analysis of the association between the SH2B1 rs7498665 single-nucleotide polymorphism and visceral fat area

Kikuko Hotta
Takuya Kitamoto
Akihiro Sekine
Research28 Jul 2011
Journal of Human Genetics

Volume: 56, P: 716-719
Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick–Kaufman syndrome gene variants are associated with metabolic syndrome

Kikuko Hotta
Takahiro Nakamura
Yusuke Nakamura
Research27 Feb 2009
Journal of Human Genetics

Volume: 54, P: 230-235
Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi
Gwenaëlle Collod-Beroud
Naomichi Matsumoto
Research04 Jul 2004
Nature Genetics

Volume: 36, P: 855-860
INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese

Kikuko Hotta
Michihiro Nakamura
Yusuke Nakamura
Research01 Sept 2008
Journal of Human Genetics

Volume: 53, P: 857-862
Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population

Kikuko Hotta
Michihiro Nakamura
Naoyuki Kamatani
Research12 Aug 2010
Journal of Human Genetics

Volume: 55, P: 738-742
A convenient cancer vaccine therapy with in vivo transfer of interleukin 12 expression plasmid using gene gun technology after priming with irradiated carcinoma cells

Masa-aki Nishitani
Tohru Sakai
Kunisuke Himeno
Research18 Feb 2002
Cancer Gene Therapy

Volume: 9, P: 156-163
The expression of NeuroD and mASH1 in the gastroenteropancreatic neuroendocrine tumors

Takashi Shida
Mitsuko Furuya
Masaru Miyazaki
Research27 Jun 2008
Modern Pathology

Volume: 21, P: 1363-1370
Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population

Kikuko Hotta
Takuya Kitamoto
Akihiro Sekine
Research28 Jul 2011
Journal of Human Genetics

Volume: 56, P: 647-651
Expression of the Snurf–Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain

Christophe K. Mapendano
Tatsuya Kishino
Tohru Ohta
Research01 Mar 2006
Journal of Human Genetics

Volume: 51, P: 236-243
Lysophosphatidylglucoside/GPR55 signaling promotes foam cell formation in human M2c macrophages

Ryosuke Shimai
Kei Hanafusa
Tohru Minamino
ResearchOpen Access06 Aug 2023
Scientific Reports

Volume: 13, P: 1-12
BCL6 overexpression prevents increase in reactive oxygen species and inhibits apoptosis induced by chemotherapeutic reagents in B-cell lymphoma cells

Tetsuya Kurosu
Tetsuya Fukuda
Osamu Miura
Research17 Jul 2003
Oncogene

Volume: 22, P: 4459-4468
Preclinical and therapeutic utility of HVJ liposomes as a gene transfer vector for hepatocellular carcinoma using herpes simplex virus thymidine kinase

Hirofumi Hasegawa
Mitsuo Shimada
Keizo Sugimachi
Research22 Jun 2001
Cancer Gene Therapy

Volume: 8, P: 252-258
Phenotype–genotype correlation in two patients with 12q proximal deletion

Noriko Miyake
Hidefumi Tonoki
Naomichi Matsumoto
Research01 May 2004
Journal of Human Genetics

Volume: 49, P: 282-284
Impairment of cerebellar long-term depression and GABAergic transmission in prion protein deficient mice ectopically expressing PrPLP/Dpl

Yasushi Kishimoto
Moritoshi Hirono
Yutaka Kirino
ResearchOpen Access28 Sept 2020
Scientific Reports

Volume: 10, P: 1-9
Protein-N-myristoylation-dependent phosphorylation of serine 13 of tyrosine kinase Lyn by casein kinase 1γ at the Golgi during intracellular protein traffic

Emiko Kinoshita-Kikuta
Toshihiko Utsumi
Tohru Koike
ResearchOpen Access01 Oct 2020
Scientific Reports

Volume: 10, P: 1-13
Inhibitory effects of polysorbate 80 on MRSA biofilm formed on different substrates including dermal tissue

Yutaka Ueda
Kota Mashima
Shiro Jimi
ResearchOpen Access28 Feb 2019
Scientific Reports

Volume: 9, P: 1-11
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia

Taku Miyagawa
Susumu Tanaka
Makoto Honda
ResearchOpen Access12 Apr 2022
npj Genomic Medicine

Volume: 7, P: 1-9
The proto-oncogene Bcl6 inhibits apoptotic cell death in differentiation-induced mouse myogenic cells

Takashi Kumagai
Tohru Miki
Shinsaku Hirosawa
Research20 Jan 1999
Oncogene

Volume: 18, P: 467-475
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

Takeshi Mizuguchi
Itsuko Furuta
Koh-ichiro Yoshiura
Research01 Feb 2004
Journal of Human Genetics

Volume: 49, P: 80-86
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

Junichi Kamimura
Keiko Wakui
Naomichi Matsumoto
Research01 Jul 2004
Journal of Human Genetics

Volume: 49, P: 360-365
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
Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women

Kikuko Hotta
Aya Kitamoto
Akihiro Sekine
Research10 Nov 2011
Journal of Human Genetics

Volume: 57, P: 46-51
Variations in the FTO gene are associated with severe obesity in the Japanese

Kikuko Hotta
Yoshio Nakata
Yusuke Nakamura
Research01 Jun 2008
Journal of Human Genetics

Volume: 53, P: 546-553

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