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

Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis

逆转录基因组学鉴定出结节病发病机制中异常的THE1B内源性逆转录病毒融合转录本

Funaguma, Shunsuke; Iida, Aritoshi; Saito, Yoshihiko; Tanboon, Jantima; De Los Reyes, Francia Victoria; Sonehara, Kyuto; Goto, Yu-Ichi; Okada, Yukinori; Hayashi, Shinichiro; Nishino, Ichizo

A novel m.14677 T > C variant in mitochondrial tRNA(Glu) gene causes chronic progressive external ophthalmoplegia

线粒体 tRNA(Glu) 基因中一种新的 m.14677 T > C 变异导致慢性进行性眼外肌麻痹

Ueda, Nahoko Katayama; Mimaki, Masakazu; Ito, Shota; Murakami, Ayuka; Yokoi, Satoshi; Nishino, Ichizo; Katsuno, Masahisa; Goto, Yu-Ichi

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females

WDR45 变异是导致女性婴儿早期出现临床表现各异的智力障碍综合征的主要原因

Abe-Hatano, Chihiro; Inoue, Ken; Takeshita, Eri; Kawai, Yosuke; Tokunaga, Katsushi; Goto, Yu-Ichi

Neuronal autoantibodies in the cerebrospinal fluid of 148 patients with schizophrenia and 151 healthy controls

对148例精神分裂症患者和151例健康对照者的脑脊液进行神经元自身抗体检测

Enokida, Takako; Yoshida, Nanako; Tatsumi, Megumi; Hidese, Shinsuke; Goto, Yu-Ichi; Hoshino, Mikio; Kunugi, Hiroshi; Hattori, Kotaro

Abnormality in GABAergic postsynaptic transmission associated with anxiety in Bronx waltzer mice with an Srrm4 mutation

携带 Srrm4 突变的 Bronx waltzer 小鼠的 GABA 能突触后传递异常与焦虑相关

Shirakawa, Yuka; Li, Heng; Inoue, Yuki; Izumi, Hitomi; Kaga, Yoshimi; Goto, Yu-Ichi; Inoue, Ken; Inagaki, Masumi

Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis

探索日本人群的遗传多样性:来自大规模全基因组测序分析的启示

Kawai, Yosuke; Watanabe, Yusuke; Omae, Yosuke; Miyahara, Reiko; Khor, Seik-Soon; Noiri, Eisei; Kitajima, Koji; Shimanuki, Hideyuki; Gatanaga, Hiroyuki; Hata, Kenichiro; Hattori, Kotaro; Iida, Aritoshi; Ishibashi-Ueda, Hatsue; Kaname, Tadashi; Kanto, Tatsuya; Matsumura, Ryo; Miyo, Kengo; Noguchi, Michio; Ozaki, Kouichi; Sugiyama, Masaya; Takahashi, Ayako; Tokuda, Haruhiko; Tomita, Tsutomu; Umezawa, Akihiro; Watanabe, Hiroshi; Yoshida, Sumiko; Goto, Yu-Ichi; Maruoka, Yutaka; Matsubara, Yoichi; Niida, Shumpei; Mizokami, Masashi; Tokunaga, Katsushi

Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in Japan

日本全国数据库对线粒体疾病患者人数的估计:一项描述性研究

Ibayashi, Koki; Fujino, Yoshihisa; Mimaki, Masakazu; Fujimoto, Kenji; Matsuda, Shinya; Goto, Yu-Ichi

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

MECP2远端两个区域内的重复:临床表现与MECP2重复综合征相似

Akahoshi, Keiko; Nakagawa, Eiji; Goto, Yu-Ichi; Inoue, Ken

5-HT(1A) Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2-Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Pathway

5-HT(1A)受体激动剂治疗通过挽救神经元传递和CREB/BDNF信号通路的损伤,部分改善mecp2基因敲除小鼠的雷特综合征表型。

Dai, Hongmei; Kitami, Yoshikazu; Goto, Yu-Ichi; Itoh, Masayuki

National Center Biobank Network

国家生物样本库网络

Omae, Yosuke; Goto, Yu-Ichi; Tokunaga, Katsushi