日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses

对干血斑中糖胺聚糖进行定量分析，并评估其作为新生儿粘多糖贮积症二级筛查试验的有效性。

期刊:Biochemistry and Biophysics Reports
影响因子:2.2
doi:10.1016/j.bbrep.2026.102569
Oboshi, Wataru; Hirakiyama, Asami; Miura, Masahiro; Omachi, Hikaru; Tanaka, Misa; Seo, Joo-Hyun; Ohtake, Akira; Osawa, Yoshimitsu; Ishige, Mika; Kosuga, Motomichi; Munenaga, Takeshi; Migita, Ohsuke; Nyuzuki, Hiromi; Sasai, Hideo; Fukuda, Tokiko; Sano, Shinichiro; Ito, Tetsuya; Bo, Ryosuke; Takeshima, Yasuhiro; Esaki, Hiroyuki; Inoue, Takahito; Nagamitsu, Shinichiro; Watanabe, Yoriko; Nakamura, Kimitoshi; Sawada, Hirotake; Maruyama, Shinsuke; Murayama, Kei; Okuyama, Torayuki
发表日期：2026
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Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.

通过空间和单细胞转录组学研究发现，Atf3 控制着女性线粒体心肌病中的转变

期刊:Science Advances
影响因子:12.5
doi:10.1126/sciadv.adq1575
Qaqorh Tasneem, Takahashi Yusuke, Sameshima Kohei, Otani Kentaro, Yazawa Issei, Nishida Yuya, Tonai Kohei, Fujihara Yoshitaka, Honda Mizuki, Oki Shinya, Ohkawa Yasuyuki, Thorburn David R, Frazier Ann E, Takeda Atsuhito, Ikeda Yoshihiko, Sakaguchi Heima, Watanabe Takuya, Fukushima Norihide, Tsukamoto Yasumasa, Makita Naomasa, Yamaguchi Osamu, Murayama Kei, Ohtake Akira, Okazaki Yasushi, Kimura Takanari, Kato Hisakazu, Inoue Hijiri, Matsuoka Ken, Takashima Seiji, Shintani Yasunori
细胞生物学
心肌病
单细胞
线粒体
发表日期：2025
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Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome

通过全基因组测序和RNA测序鉴定出MICOS10变异与一种新型肝脑线粒体DNA耗竭综合征相关

期刊:Liver International
影响因子:5.2
doi:10.1111/liv.16148
Kishita, Yoshihito; Sugiura, Ayumu; Omichi, Nanako; Shimura, Masaru; Yatsuka, Yukiko; Nakamura, Kohta; Tanaka, Toju; Kubota, Mitsuru; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi
ICOS
线粒体
神经科学
发表日期：2025
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Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia

利用 Gal-1-P/Gal 比值、胆汁酸和氨预测新生儿高半乳糖血症先天性门体分流

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11030061
Suzuki-Ajihara, Sayaka; Musha, Ikuma; Arao, Masato; Mori, Koki; Fujibayashi, Shunsuke; Ryo, Ihiro; Kono, Tomotaka; Tajima, Asako; Mochizuki, Hiroshi; Imai-Okazaki, Atsuko; Araki, Ryuichiro; Numakura, Chikahiko; Ohtake, Akira
发表日期：2025
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Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study

5-氨基乙酰丙酸盐酸盐联合柠檬酸亚铁钠治疗莱氏综合征和中枢神经系统疾病患儿的疗效和安全性：一项初步探索性试验，包括双盲安慰剂对照期、开放标签期和后续长期给药研究

期刊:Life-Basel
影响因子:3.4
doi:10.3390/life15081168
Abe, Yuichi; Hamasaki, Toshimitsu; Natsume, Jun; Mogami, Yukiko; Murayama, Kei; Shiraishi, Hideaki; Abe, Yuki; Kumada, Satoko; Tanaka, Ryuta; Ihara, Kenji; Sakakibara, Takafumi; Okazaki, Yasushi; Nakagawa, Hitoshi; Takahashi, Kiwamu; Yamauchi, Mitsugu; Nakajima, Motowo; Ohtake, Akira
神经科学
发表日期：2025
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Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations

DNM1L突变引起的线粒体功能障碍导致的心脏功能障碍，可通过人类iPS细胞进行评估

期刊:Pediatric Research
影响因子:3.1
doi:10.1038/s41390-025-04045-6
Osawa, Madori T; Fujita, Yasunori; Kagami, Kazuki; Ito, Masataka; Tamura, Yoshiteru; Tateishi, Shoichiro; Take, Junya; Hirose, Fumi; Hagiwara, Hidetoshi; Imai, Kohsuke; Yoshinaga, Daisuke; Baba, Shiro; Osawa, Mitsujiro; Harashima, Hiroko; Murayama, Kei; Akioka, Yuko; Ohtake, Akira; Suzuki, Ikuro; Adachi, Takeshi; Yamazaki, Takeru; Arai, Satoshi; Matsumoto, Shiro; Kitaguchi, Tetsuya; Saito, Megumu K; Ohsawa, Ikuroh; Nonoyama, Shigeaki
细胞生物学
线粒体
DNM1L
发表日期：2025
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Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation

一名成年患者因多发性肌炎接受泼尼松治疗，后经活体肝移植治愈，该患者表现出氨甲酰磷酸合成酶 1 缺乏症。

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101200
Yokota, Kazuhiro; Ohtake, Akira; Yamazaki, Taro; Tsuzuki-Wada, Takuma; Saito-Tsuruoka, Megumi; Fushimi, Takuya; Murayama, Kei; Akiyama, Yuji; Mimura, Toshihide
发表日期：2025
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A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype

一名患有MARS2基因内变异并伴有软骨发育不良表型的女孩

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101198
Iijima, Hiroyuki; Tsujioka, Yuko; Tsutsumi, Yoshiyuki; Nishimura, Gen; Okazaki, Yasushi; Murayama, Kei; Kubota, Mitsuru; Ohtake, Akira
发育与干细胞
RS2
发表日期：2025
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

利用综合基因组分析成功诊断森格斯综合征

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70048
Nakamura, Kohta; Yatsuka, Yukiko; Naito, Sachie; Hasegawa, Akira; Kasukawa, Takeya; Kondo, Atsushi; Kishita, Yoshihito; Sugiyama, Yohei; Onuki, Takanori; Ebihara, Tomohiro; Tsuruoka, Tomoko; Fushimi, Takuya; Ohtake, Akira; Murayama, Kei; Imai-Okazaki, Atsuko; Okazaki, Yasushi
发表日期：2025
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A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection

一例由新型变异株引起的17β-羟类固醇脱氢酶10型（HSD10）疾病，表现为病毒感染诱发的快速进展性心肌病

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.93552
Kubo, Ryusei; Iwamoto, Yoichi; Ajihara, Sayaka; Murayama, Kei; Ohtake, Akira; Fujinuma, Sumie; Sugiyama, Koki; Ishido, Hirotaka; Korematsu, Seigo; Masutani, Satoshi
炎症/感染
心血管
心肌病
微生物学
发表日期：2025
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