Nature Search

Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank

Aye Ko Ko Minn
Motomichi Matsuzaki
Gen Tamiya
ResearchOpen Access03 Apr 2025
Journal of Human Genetics

Volume: 70, P: 287-296
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
Relationship of sagittal spinal alignment with low back pain and physical performance in the general population

Kazuhiro Hira
Keiji Nagata
Hiroshi Yamada
ResearchOpen Access18 Oct 2021
Scientific Reports

Volume: 11, P: 1-8
Rapid and Integrated Bacterial Evolution Analysis unveils gene mutations and clinical risk of Klebsiella pneumoniae

Authors develop and present RIBEA (Rapid and Integrated Bacterial Evolution Analysis), an approach that combines lab-based evolution experiments, genome sequencing and in vivo testing, to monitor long-term evolution or bacterial pathogenicity and antimicrobial resistance, in the context of Klebsiella pneumoniae.

Kojiro Uemura
Toyotaka Sato
Shin-ichi Yokota
ResearchOpen Access25 Mar 2025
Nature Communications

Volume: 16, P: 1-17
Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies

Shun Kodate
Mitsuharu Sato
Kengo Kinoshita
ResearchOpen Access16 May 2025
Scientific Reports

Volume: 15, P: 1-11
Fertilization controls tiller numbers via transcriptional regulation of a MAX1-like gene in rice cultivation

Here the authors show that fertilization controls rice tiller numbers through the transcription of a rice MAX1-like gene involved in strigolactone biosynthesis. Promoter variation lines have the potential to improve yield when fertilizer is limited.

Jinying Cui
Noriko Nishide
Takeshi Izawa
ResearchOpen Access08 Jun 2023
Nature Communications

Volume: 14, P: 1-13
Expression and subcellular localisation of AID and APOBEC3 in adenoid and palatine tonsils

Noriko Seishima
Satoru Kondo
Tomokazu Yoshizaki
ResearchOpen Access17 Jan 2018
Scientific Reports

Volume: 8, P: 1-9
Impact of Blood Pressure Variability on Cardiovascular Events in Elderly Patients with Hypertension

Masato Eto
Kenji Toba
Yasuyoshi Ouchi
Research01 Jan 2005
Hypertension Research

Volume: 28, P: 1-7
Guidance of myocardial patterning in cardiac development by Sema6D reverse signalling

Toshihiko Toyofuku
Hong Zhang
Hitoshi Kikutani
Research14 Nov 2004
Nature Cell Biology

Volume: 6, P: 1204-1211
Semaphorin 7A initiates T-cell-mediated inflammatory responses through α1β1 integrin

Kazuhiro Suzuki
Tatsusada Okuno
Hitoshi Kikutani
Research21 Mar 2007
Nature

Volume: 446, P: 680-684
Mast cell maturation is driven via a group III phospholipase A₂-prostaglandin D₂–DP1 receptor paracrine axis

The mechanisms controlling maturation of mast cells toward an anaphylaxis-sensitive phenotype remain unclear. Murakami and colleagues show that PLA2G3, a mammalian homolog of anaphylactic bee venom phospholipase A₂, regulates this process.

Yoshitaka Taketomi
Noriko Ueno
Makoto Murakami
Research28 Apr 2013
Nature Immunology

Volume: 14, P: 554-563
Olfactory receptor for prostaglandin F_2α mediates male fish courtship behavior

In fish, prostaglandin F_2α is a female hormone regulating ovulation, but it is also a pheromone that triggers male reproductive behavior. In this study, the authors identified an olfactory receptor for prostaglandin F_2α, which, when mutated, leads to impaired courtship behavior in male zebrafish.

Yoichi Yabuki
Tetsuya Koide
Yoshihiro Yoshihara
Research30 May 2016
Nature Neuroscience

Volume: 19, P: 897-904
Haplotype-Based Case-Control Study of the Human CYP4F2 Gene and Essential Hypertension in Japanese Subjects

Zhenyan Fu
Tomohiro Nakayama
Yitong Ma
Research01 Sept 2008
Hypertension Research

Volume: 31, P: 1719-1726
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Kohei Hamanaka
Satoko Miyatake
Naomichi Matsumoto
Research27 Sept 2018
Journal of Human Genetics

Volume: 63, P: 1223-1229
Prevalence of cervical anterior and posterior spondylolisthesis and its association with degenerative cervical myelopathy in a general population

Kimihide Murakami
Keiji Nagata
Hiroshi Yamada
ResearchOpen Access26 Jun 2020
Scientific Reports

Volume: 10, P: 1-8
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Kohei Hamanaka
Yuji Sugawara
Naomichi Matsumoto
Research28 Nov 2018
European Journal of Human Genetics

Volume: 27, P: 378-383
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

Aritoshi Iida
Nobuhiko Okamoto
Shiro Ikegawa
Research04 Apr 2013
Journal of Human Genetics

Volume: 58, P: 391-394
Control of root system architecture by DEEPER ROOTING 1 increases rice yield under drought conditions

Yusaku Uga and colleagues show that the gene underlying the rice quantitative trait locus DEEPER ROOTING 1 (DRO1) influences root growth angle and allows plants to maintain high yield performance under drought conditions. They further show that DRO1 is involved in cell elongation in the root tip that causes asymmetric root growth and downward bending of the root in response to gravity.

Yusaku Uga
Kazuhiko Sugimoto
Masahiro Yano
Research04 Aug 2013
Nature Genetics

Volume: 45, P: 1097-1102
Fas Ligand mRNA Levels of Circulating Leukocytes Reflect Endothelial Dysfunction in Hyperlipidemic but Not in Non-Hyperlipidemic Patients

Noriko Kotani
Keisuke Fukuo
Toshio Ogihara
Research01 Apr 2006
Hypertension Research

Volume: 29, P: 217-225
Tolerable glycometabolic stress boosts cancer cell resilience through altered N-glycosylation and Notch signaling activation

Shungo Iwamoto
Takashi Kobayashi
Naoki Itano
ResearchOpen Access15 Jan 2024
Cell Death & Disease

Volume: 15, P: 1-15
Longitudinal trajectories of anterior cingulate glutamate and subclinical psychotic experiences in early adolescence: the impact of bullying victimization

Naohiro Okada
Noriaki Yahata
Kiyoto Kasai
ResearchOpen Access05 Jan 2024
Molecular Psychiatry

Volume: 29, P: 939-950
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Simo Li
Sanami Takada
Noriko Miyake
ResearchOpen Access05 Nov 2024
npj Genomic Medicine

Volume: 9, P: 1-12
Novel FIG4 mutations in Yunis–Varon syndrome

Junya Nakajima
Nobuhiko Okamoto
Noriko Miyake
Research03 Oct 2013
Journal of Human Genetics

Volume: 58, P: 822-824
Birth order and prosociality in the early adolescent brain

Naohiro Okada
Yu Yamamoto
Kiyoto Kasai
ResearchOpen Access08 Nov 2021
Scientific Reports

Volume: 11, P: 1-14
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Kizuki Watanabe
Shin-ya Nishio
Shunsuke Kondo
ResearchOpen Access09 Apr 2024
Scientific Reports

Volume: 14, P: 1-19
Neurometabolic and functional connectivity basis of prosocial behavior in early adolescence

Naohiro Okada
Noriaki Yahata
Kiyoto Kasai
ResearchOpen Access24 Jan 2019
Scientific Reports

Volume: 9, P: 1-14
Abnormal asymmetries in subcortical brain volume in early adolescents with subclinical psychotic experiences

Naohiro Okada
Noriaki Yahata
Kiyoto Kasai
ResearchOpen Access28 Nov 2018
Translational Psychiatry

Volume: 8, P: 1-11
Distal 2q duplication in a patient with intellectual disability

Toshifumi Suzuki
Hitoshi Osaka
Naomichi Matsumoto
ResearchOpen Access10 Nov 2022
Human Genome Variation

Volume: 9, P: 1-4
Early gestational maternal low-protein diet diminishes hepatic response to fasting in young adult male mice

Noriko Sato
Katsuko Sudo
Masahiro Sugimoto
ResearchOpen Access29 Aug 2017
Scientific Reports

Volume: 7, P: 1-13
Molecular diagnosis of 405 individuals with autism spectrum disorder

Noriko Miyake
Yoshinori Tsurusaki
Naomichi Matsumoto
Research27 Mar 2023
European Journal of Human Genetics

Volume: 32, P: 1551-1558
A novel NONO variant that causes developmental delay and cardiac phenotypes

Toshiyuki Itai
Atsushi Sugie
Naomichi Matsumoto
ResearchOpen Access18 Jan 2023
Scientific Reports

Volume: 13, P: 1-9
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Eri Imagawa
Ryoko Fukai
Naomichi Matsumoto
ResearchOpen Access17 Sept 2015
Human Genome Variation

Volume: 2, P: 1-3
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

Junya Nakajima
Tuba F Eminoglu
Noriko Miyake
Research16 Jan 2014
Journal of Human Genetics

Volume: 59, P: 229-232
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Satoko Miyatake
Nobuhiko Okamoto
Naomichi Matsumoto
Research02 Mar 2017
Journal of Human Genetics

Volume: 62, P: 741-746
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Satoko Miyatake
Eriko Koshimizu
Naomichi Matsumoto
Research22 Jan 2015
Journal of Human Genetics

Volume: 60, P: 175-182
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

Atsushi Fujita
Bertrand Isidor
Naomichi Matsumoto
Research26 May 2016
Journal of Human Genetics

Volume: 61, P: 835-838
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

Gaku Minase
Satoko Miyatake
Naomichi Matsumoto
Research20 Jul 2017
Journal of Human Genetics

Volume: 62, P: 997-1000
Temperature imaging using a cationic linear fluorescent polymeric thermometer and fluorescence lifetime imaging microscopy

This protocol describes intracellular temperature imaging with a cationic linear fluorescent polymeric thermometer (FPT). Step-by-step procedures are provided for sensor calibration and imaging by fluorescence lifetime imaging microscopy (FLIM).

Noriko Inada
Nanaho Fukuda
Seiichi Uchiyama
Protocols22 Mar 2019
Nature Protocols

Volume: 14, P: 1293-1321
Whole exome sequencing of fetal structural anomalies detected by ultrasonography

Hiromi Aoi
Takeshi Mizuguchi
Naomichi Matsumoto
Research03 Nov 2020
Journal of Human Genetics

Volume: 66, P: 499-507
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi
Yoshinori Tsurusaki
Naomichi Matsumoto
Research17 Sept 2019
Journal of Human Genetics

Volume: 64, P: 1173-1186
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Hiromi Aoi
Takeshi Mizuguchi
Naomichi Matsumoto
Research23 Jul 2019
Journal of Human Genetics

Volume: 64, P: 967-978

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