Nature Search

Blowflies are potential vector for avian influenza virus at enzootic area in Japan

Ryosuke Fujita
Takuji Tachi
Shinji Kasai
ResearchOpen Access04 May 2024
Scientific Reports

Volume: 14, P: 1-5
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

The RNA methyltransferase activity of SPOUT1/CENP-32 is crucial for accurate mitotic spindle organization. Here, the authors describe a neurodevelopmental disorder caused by bi-allelic pathogenic SPOUT1 variants with reduced activity and compromised function in spindle organization.

Avinash V. Dharmadhikari
Maria Alba Abad
Jun Liao
ResearchOpen Access17 Feb 2025
Nature Communications

Volume: 16, P: 1-24
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 CLIP1–LTK fusion is an oncogenic driver in non‐small‐cell lung cancer

Whole-transcriptome sequencing of a subset of 75 non-small-cell lung cancer specimens in a multi-institutional genome screening study identified a fusion of the CLIP1 and LTK genes with transformational potential due to constitutive LTK kinase activity.

Hiroki Izumi
Shingo Matsumoto
Koichi Goto
Research24 Nov 2021
Nature

Volume: 600, P: 319-323
Membrane structure-responsive lipid scrambling by TMEM63B to control plasma membrane lipid distribution

By combining genome-wide clustered regularly interspaced short palindromic repeats with Cas9 screening and cryo-electron microscopy structure analysis, the authors identified transmembrane protein 63B as a lipid scramblase that detects structural changes in the lipid bilayer and scrambles lipids to regulate membrane lipid distributions.

Yugo Miyata
Katsuya Takahashi
Katsumori Segawa
ResearchOpen Access18 Oct 2024
Nature Structural & Molecular Biology

Volume: 32, P: 185-198
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
Single-cell mass spectrometry imaging of lipids in HeLa cells via tapping-mode scanning probe electrospray ionization

Lipid metabolism abnormalities can lead to diseases like cancer and neurodegenerative disorders, however, the relationship between the heterogeneity of the cells constituting tissues and the disease state remains underexplored. Here, the authors develop a tapping-mode scanning probe electrospray ionization system for single-cell mass spectrometry imaging to visualize lipid distributions in individual HeLa cells and to further understand cellular heterogeneity.

Yoichi Otsuka
Kazuya Kabayama
Michisato Toyoda
ResearchOpen Access14 May 2025
Communications Chemistry

Volume: 8, P: 1-12
Stratifin as a novel diagnostic biomarker in serum for diffuse alveolar damage

No reliable serum biomarker for diffuse alveolar damage, a poor prognosis subtype of drug-induced interstitial lung disease, is currently available. Here, the authors show stratifin/14-3-3σ in serum is a promising biomarker for diagnosis of this type of disease.

Noriaki Arakawa
Atsuhito Ushiki
Masayuki Hanaoka
ResearchOpen Access04 Oct 2022
Nature Communications

Volume: 13, P: 1-16
Clinical and brain functional correlates of instrumental rigidity measurement in Parkinson’s disease

Yoshikazu Nakano
Shigeki Hirano
Satoshi Kuwabara
ResearchOpen Access07 Mar 2025
Scientific Reports

Volume: 15, P: 1-9
Relationship between the Thromboxane A₂ Receptor Gene and Susceptibility to Cerebral Infarction

Yoshiyuki Kaneko
Tomohiro Nakayama
Naoyuki Sato
Research01 Sept 2006
Hypertension Research

Volume: 29, P: 665-671
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
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Ian Krantz, Katsuhiko Shirahige and colleagues report the genetic characterization of a new clinical syndrome characterized by cognitive impairment, heart and pulmonary defects, and skeletal dysplasia, among other symptoms. They identify gain-of-function mutations in the super elongation complex gene AFF4 as causing the disorder.

Kosuke Izumi
Ryuichiro Nakato
Ian D Krantz
Research02 Mar 2015
Nature Genetics

Volume: 47, P: 338-344
Common Single Nucleotide Polymorphisms in Japanese Patients with Essential Hypertension: Aldehyde Dehydrogenase 2 Gene as a Risk Factor Independent of Alcohol Consumption

Peng Hui
Tomohiro Nakayama
Zuheng Cheng
Research01 Jul 2007
Hypertension Research

Volume: 30, P: 585-592
External stimulation-controllable heat-storage ceramics

Materials that can store and release heat on demand are of use for energy storage applications. Here, the authors discover a ceramic material that can reversibly store energy from heat, light or electricity and release this energy as heat through the application of pressure.

Hiroko Tokoro
Marie Yoshikiyo
Shin-ichi Ohkoshi
ResearchOpen Access12 May 2015
Nature Communications

Volume: 6, P: 1-8
Activation of SARS-CoV-2 by trypsin-like proteases in the clinical specimens of patients with COVID-19

Emiko Yamazaki
Shunsuke Yazawa
Hideki Tani
ResearchOpen Access19 Jul 2023
Scientific Reports

Volume: 13, P: 1-8
Haplotype-Based Case-Control Study of the Association between the Guanylate Cyclase Activator 2B (GUCA2B, Uroguanylin) Gene and Essential Hypertension

Yukie Yoshikawa
Tomohiro Nakayama
Ron Usami
Research01 Sept 2007
Hypertension Research

Volume: 30, P: 789-796
Blood pressure reduction with empagliflozin in Japanese patients with type 2 diabetes and cardiovascular diseases: a post-hoc sub-analysis of the placebo-controlled randomized EMBLEM trial

Atsushi Tanaka
Michio Shimabukuro
Kunio Yufu
Research24 May 2024
Hypertension Research

Volume: 47, P: 2295-2302
Mouse embryonic kidney transplantation identifies maturation defects in the medulla

Hiroshi Ide
Koichiro Miike
Ryuichi Nishinakamura
ResearchOpen Access05 Dec 2024
Scientific Reports

Volume: 14, P: 1-13
Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Gonench Kilich
Kelly Hassey
Kathleen E. Sullivan
ResearchOpen Access11 Jan 2024
npj Genomic Medicine

Volume: 9, P: 1-6
Comparative analysis of necrotizing enterocolitis in preterm infants born in Japan and born to mothers of Japanese ethnicity in California

Satoshi Kusuda
Mihoko V. Bennett
Asao Yara
ResearchOpen Access22 Mar 2025
Scientific Reports

Volume: 15, P: 1-11
LTK mutations responsible for resistance to lorlatinib in non-small cell lung cancer harboring CLIP1-LTK fusion

A novel strategy using gilteritinib can overcome resistance to lorlatinib in non-small cell lung cancer with CLIP1-LTK-L650F mutation.

Shunta Mori
Hiroki Izumi
Susumu S. Kobayashi
ResearchOpen Access04 Apr 2024
Communications Biology

Volume: 7, P: 1-10
Clinical utility of exome sequencing in infantile heart failure

Alyssa Ritter
Emma Bedoukian
Rebecca C. Ahrens-Nicklas
Research17 Sept 2019
Genetics in Medicine

Volume: 22, P: 423-426
Identification of a Prosencephalic-Specific Enhancer of SALL1: Comparative Genomic Approach Using the Chick Embryo

Kosuke Izumi
Michihiko Aramaki
Kenjiro Kosaki
Research01 Jun 2007
Pediatric Research

Volume: 61, P: 660-665
Caudal Regression and Tracheoesophageal Malformation Induced by Adriamycin: A Novel Chick Model of VATER Association

Yoko Naito
Tokuhiro Kimura
Kenjiro Kosaki
Research01 Jun 2009
Pediatric Research

Volume: 65, P: 607-612
COVID-19 mRNA booster vaccination induces robust antibody responses but few adverse events among SARS-CoV-2 naïve nursing home residents

Masae Itamochi
Shunsuke Yazawa
Kazunori Oishi
ResearchOpen Access07 Oct 2024
Scientific Reports

Volume: 14, P: 1-9
Influence of hospital capabilities and prehospital time on outcomes of thrombectomy for stroke in Japan from 2013 to 2016

Ai Kurogi
Daisuke Onozuka
Masayuki Yokota
ResearchOpen Access28 Feb 2022
Scientific Reports

Volume: 12, P: 1-17
Trace impurities in sodium phosphate influences the physiological activity of Escherichia coli in M9 minimal medium

Yuki Soma
Saki Tominaga
Takeshi Bamba
ResearchOpen Access13 Oct 2023
Scientific Reports

Volume: 13, P: 1-10
Long-term effects of ipragliflozin on blood pressure in patients with type 2 diabetes: insights from the randomized PROTECT trial

Yuichi Saito
Atsushi Tanaka
Kosuke Nishio
Research14 Nov 2023
Hypertension Research

Volume: 47, P: 168-176
Identification and characterization of lysophosphatidylcholine 14:0 as a biomarker for drug-induced lung disease

Kosuke Saito
Akihiko Gemma
Masayuki Hanaoka
ResearchOpen Access17 Nov 2022
Scientific Reports

Volume: 12, P: 1-12
Solar abundance ratios of the iron-peak elements in the Perseus cluster

High-resolution X-ray spectra show near-solar abundances of chromium, manganese and nickel with respect to iron in the Perseus cluster, suggesting that the progenitors of type Ia supernovae could be near- and sub-Chandrasekhar-mass white dwarfs.

Felix Aharonian
Hiroki Akamatsu
Abderahmen Zoghbi
Research01 Nov 2017
Nature

Volume: 551, P: 478-480
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang
Gabrielle Lemire
Philippe M. Campeau
Research19 May 2020
Genetics in Medicine

Volume: 22, P: 1338-1347
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne
Shuxiang Goh
Philippe M. Campeau
Research20 Oct 2020
Genetics in Medicine

Volume: 23, P: 374-383
More rapid progression of brain atrophy in patients on peritoneal dialysis compared with hemodialysis: The VCOHP Study

We demonstrated that decline in GMR progressed significantly more rapidly in PD patients than HD patients independent of potential confounding factors. GMR gray matter volume ratio, HD hemodialysis, PD peritoneal dialysis.

Kazuhiko Tsuruya
Hisako Yoshida
Takanari Kitazono
Research20 Dec 2023
Hypertension Research

Volume: 47, P: 887-897
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

Toshiyuki Maeda
Ken Higashimoto
Hidenobu Soejima
ResearchOpen Access08 May 2014
Genetics in Medicine

Volume: 16, P: 903-912

Search

Blowflies are potential vector for avian influenza virus at enzootic area in Japan

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Blood DNA virome associates with autoimmune diseases and COVID-19

The CLIP1–LTK fusion is an oncogenic driver in non‐small‐cell lung cancer

Membrane structure-responsive lipid scrambling by TMEM63B to control plasma membrane lipid distribution

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

Single-cell mass spectrometry imaging of lipids in HeLa cells via tapping-mode scanning probe electrospray ionization

Stratifin as a novel diagnostic biomarker in serum for diffuse alveolar damage

Clinical and brain functional correlates of instrumental rigidity measurement in Parkinson’s disease

Relationship between the Thromboxane A₂ Receptor Gene and Susceptibility to Cerebral Infarction

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

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Common Single Nucleotide Polymorphisms in Japanese Patients with Essential Hypertension: Aldehyde Dehydrogenase 2 Gene as a Risk Factor Independent of Alcohol Consumption

External stimulation-controllable heat-storage ceramics

Activation of SARS-CoV-2 by trypsin-like proteases in the clinical specimens of patients with COVID-19

Haplotype-Based Case-Control Study of the Association between the Guanylate Cyclase Activator 2B (GUCA2B, Uroguanylin) Gene and Essential Hypertension

Blood pressure reduction with empagliflozin in Japanese patients with type 2 diabetes and cardiovascular diseases: a post-hoc sub-analysis of the placebo-controlled randomized EMBLEM trial

Mouse embryonic kidney transplantation identifies maturation defects in the medulla

Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Comparative analysis of necrotizing enterocolitis in preterm infants born in Japan and born to mothers of Japanese ethnicity in California

LTK mutations responsible for resistance to lorlatinib in non-small cell lung cancer harboring CLIP1-LTK fusion

Clinical utility of exome sequencing in infantile heart failure

Identification of a Prosencephalic-Specific Enhancer of SALL1: Comparative Genomic Approach Using the Chick Embryo

Caudal Regression and Tracheoesophageal Malformation Induced by Adriamycin: A Novel Chick Model of VATER Association

COVID-19 mRNA booster vaccination induces robust antibody responses but few adverse events among SARS-CoV-2 naïve nursing home residents

Influence of hospital capabilities and prehospital time on outcomes of thrombectomy for stroke in Japan from 2013 to 2016

Trace impurities in sodium phosphate influences the physiological activity of Escherichia coli in M9 minimal medium

Long-term effects of ipragliflozin on blood pressure in patients with type 2 diabetes: insights from the randomized PROTECT trial

Identification and characterization of lysophosphatidylcholine 14:0 as a biomarker for drug-induced lung disease

Solar abundance ratios of the iron-peak elements in the Perseus cluster

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

More rapid progression of brain atrophy in patients on peritoneal dialysis compared with hemodialysis: The VCOHP Study

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

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