Nature Search

Adaptation and validation of the Japanese version of the Spinal Cord Independence Measure (SCIM III) self-report

Sho Takeuchi
Osamu Uemura
Meigen Liu
Research30 Apr 2021
Spinal Cord

Volume: 59, P: 1096-1103
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction

Kohta Nakamura
Yoshihito Kishita
Yasushi Okazaki
Research22 Jul 2025
Journal of Human Genetics

Volume: 70, P: 541-543
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

Sung et al. provide a powerful pipeline based on deep mutational scanning to elucidate the molecular mechanisms of mitochondrial complex I assembly and predict pathogenicity of mutations in complex I assembly factors.

Andrew Y. Sung
Rachel M. Guerra
David J. Pagliarini
Research08 May 2024
Nature Metabolism

Volume: 6, P: 1128-1142
Shared striatal activity in decisions to satisfy curiosity and hunger at the risk of electric shocks

In two functional MRI studies in which participants pay for the revelation of the solutions to magic tricks and trivia questions by risking electric shocks, Lau et al. show that curiosity-driven decisions involve activity in the striatum.

Johnny King L. Lau
Hiroki Ozono
Kou Murayama
Research30 Mar 2020
Nature Human Behaviour

Volume: 4, P: 531-543
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
Molecular basis for gating of cardiac ryanodine receptor explains the mechanisms for gain- and loss-of function mutations

Ryanodine receptor 2 (RyR2) is a Ca²⁺ release channel essential for cardiac excitation-contraction coupling. Here, the authors use structural and functional analysis to reveal RyR2 gating mechanism and its alterations by pathogenic mutations.

Takuya Kobayashi
Akihisa Tsutsumi
Haruo Ogawa
ResearchOpen Access20 May 2022
Nature Communications

Volume: 13, P: 1-15
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder

Chupong Ittiwut
Rungnapa Ittiwut
Vorasuk Shotelersuk
ResearchOpen Access12 Dec 2023
Scientific Reports

Volume: 13, P: 1-6
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

Yoshihito Kishita
Kaori Ishikawa
Yasushi Okazaki
ResearchOpen Access27 May 2021
Scientific Reports

Volume: 11, P: 1-6
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Nana Akiyama
Masaru Shimura
Kei Murayama
ResearchOpen Access11 Feb 2021
Scientific Reports

Volume: 11, P: 1-7
BCS1L mutations produce Fanconi syndrome with developmental disability

Kojima-Ishii Kanako
Nana Sakakibara
Kandai Nozu
Research15 Oct 2021
Journal of Human Genetics

Volume: 67, P: 143-148
A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

Yue Yao
Motoi Nishimura
Tomoaki Tanaka
ResearchOpen Access22 Nov 2019
Scientific Reports

Volume: 9, P: 1-7
Dissection of the polygenic architecture of neuronal Aβ production using a large sample of individual iPSC lines derived from Alzheimer’s disease patients

Using more than 100 independent iPSC lines derived from patients with Alzheimer’s disease, the authors discovered loci associated with the neuronal production of amyloid β and confirmed their influence using RNA interference.

Takayuki Kondo
Norikazu Hara
Haruhisa Inoue
Research17 Feb 2022
Nature Aging

Volume: 2, P: 125-139
PIM kinases facilitate lentiviral evasion from SAMHD1 restriction via Vpx phosphorylation

The accessory lentiviral protein X (Vpx) of the SIV_smm/mac and HIV-2 lineage targets the host-restriction factor SAMHD1 for proteasomal degradation. Here, the authors show that host PIM kinase-mediated phosphorylation of Vpx stabilizes its interaction with SAMHD1, suggesting PIM as potential antiviral targets.

Kei Miyakawa
Satoko Matsunaga
Akihide Ryo
ResearchOpen Access23 Apr 2019
Nature Communications

Volume: 10, P: 1-12
Prognostic importance of CDK4/6-specific activity as a predictive marker for recurrence in patients with endometrial cancer, with or without adjuvant chemotherapy

Yuji Ikeda
Katsutoshi Oda
Tomoyuki Fujii
ResearchOpen Access10 Nov 2015
British Journal of Cancer

Volume: 113, P: 1477-1483
Novel ITPA variants identified by whole genome sequencing and RNA sequencing

Nanako Omichi
Yoshihito Kishita
Yasushi Okazaki
Research29 May 2023
Journal of Human Genetics

Volume: 68, P: 649-652
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy

Kokoro Ozaki
Yukiko Yatsuka
Yasushi Okazaki
ResearchOpen Access25 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-12
A Japanese patient with neonatal biotin-responsive basal ganglia disease

Mizuki Kobayashi
Yuichi Suzuki
Hitoshi Osaka
ResearchOpen Access29 Sept 2022
Human Genome Variation

Volume: 9, P: 1-3
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome

Atsushi Hattori
Torayuki Okuyama
Yasuyuki Fukuhara
ResearchOpen Access12 Sept 2022
Human Genome Variation

Volume: 9, P: 1-4
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

Tomoko Lee
Maiko Misaki
Yasuhiro Takeshima
ResearchOpen Access16 Aug 2018
Human Genome Variation

Volume: 5, P: 1-4
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome

Takahiro Ikeda
Hitoshi Osaka
Takanori Yamagata
ResearchOpen Access04 Sept 2018
Human Genome Variation

Volume: 5, P: 1-4
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

Shinobu Fukumura
Chihiro Ohba
Hiroyuki Tsutsumi
Research28 May 2015
Journal of Human Genetics

Volume: 60, P: 509-513
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

Toshiyuki Fukao
Kazuhisa Akiba
Yukihiro Hasegawa
Research18 Sept 2014
Journal of Human Genetics

Volume: 59, P: 609-614
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation

Misako Kunii
Hiroshi Doi
Fumiaki Tanaka
Research05 Feb 2015
Journal of Human Genetics

Volume: 60, P: 187-191
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

Atsuko Imai
Masakazu Kohda
Jurg Ott
ResearchOpen Access30 Jun 2016
Journal of Human Genetics

Volume: 61, P: 959-963
Relationship Between Oxidative Stress and Antioxidant Systems in the Liver of Patients With Wilson Disease: Hepatic Manifestation in Wilson Disease as a Consequence of Augmented Oxidative Stress

Hironori Nagasaka
Ikuo Inoue
Hirokazu Tsukahara
Research01 Oct 2006
Pediatric Research

Volume: 60, P: 472-477
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations

Madori T. Osawa
Yasunori Fujita
Shigeaki Nonoyama
ResearchOpen Access23 Apr 2025
Pediatric Research

P: 1-12
Circulation derived from 4D flow MRI correlates with right ventricular dysfunction in patients with tetralogy of Fallot

Nanae Tsuchiya
Michinobu Nagao
Shuji Sakai
ResearchOpen Access02 Jun 2021
Scientific Reports

Volume: 11, P: 1-12
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Masaru Shimura
Naoko Nozawa
Kei Murayama
ResearchOpen Access22 Jul 2019
Scientific Reports

Volume: 9, P: 1-11
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

Sze Chern Lim
Makiko Tajika
Matthew McKenzie
ResearchOpen Access09 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Hiroki Maruyama
Kaori Miyata
Satoshi Ishii
ResearchOpen Access15 Mar 2018
Genetics in Medicine

Volume: 21, P: 44-52
Higher longitudinal brain white matter atrophy rate in aquaporin-4 IgG-positive NMOSD compared with healthy controls

Hiroki Masuda
Masahiro Mori
Satoshi Kuwabara
ResearchOpen Access03 Aug 2023
Scientific Reports

Volume: 13, P: 1-14
Does surgery improve neurological outcomes in older individuals with cervical spinal cord injury without bone injury? A multicenter study

Satoshi Nori
Kota Watanabe
Satoshi Kato
Research11 Jun 2022
Spinal Cord

Volume: 60, P: 895-902
Differences in clinical characteristics of cervical spine injuries in older adults by external causes: a multicenter study of 1512 cases

Noriaki Yokogawa
Satoshi Kato
Kota Watanabe
ResearchOpen Access23 Sept 2022
Scientific Reports

Volume: 12, P: 1-10
Current progress of rehabilitative strategies in stem cell therapy for spinal cord injury: a review

Syoichi Tashiro
Osahiko Tsuji
Masaya Nakamura
ReviewsOpen Access25 Nov 2021
npj Regenerative Medicine

Volume: 6, P: 1-10
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Nana Akiyama
Masaru Shimura
Kei Murayama
Amendments and CorrectionsOpen Access16 Nov 2021
Scientific Reports

Volume: 11, P: 1-2
Synergic interaction between ritodrine and magnesium sulfate on the occurrence of critical neonatal hyperkalemia: A Japanese nationwide retrospective cohort study

Yukari Yada
Akihide Ohkuchi
Mariko Hida
ResearchOpen Access08 May 2020
Scientific Reports

Volume: 10, P: 1-13
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Hiroki Maruyama
Kaori Miyata
Satoshi Ishii
Amendments and Corrections07 Sept 2018
Genetics in Medicine

Volume: 21, P: 512-515
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Hiroki Maruyama
Kaori Miyata
Satoshi Ishii
Amendments and Corrections06 Feb 2019
Genetics in Medicine

Volume: 21, P: 1263
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Hiroki Maruyama
Kaori Miyata
Satoshi Ishii
Amendments and CorrectionsOpen Access12 Sept 2018
Genetics in Medicine

Volume: 21, P: 1900
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

Nurun N Borna
Yoshihito Kishita
Yasushi Okazaki
Research26 Jan 2017
Journal of Human Genetics

Volume: 62, P: 539-547
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

Kei Murayama
Masaru Shimura
Akira Ohtake
Reviews21 Nov 2018
Journal of Human Genetics

Volume: 64, P: 113-125

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