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

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

VarMeter2:一种基于结构的增强型方法,通过马氏距离预测致病性错义变异

Ohno Shiho, Ogura Chika, Yabuki Akane, Itoh Kazuyoshi, Manabe Noriyoshi, Angata Kiyohiko, Togayachi Akira, Aoki-Kinoshita Kiyoko, Furukawa Jun-Ichi, Inamori Kei-Ichiro, Inokuchi Jin-Ichi, Kaname Tadashi, Nishihara Shoko, Yamaguchi Yoshiki

Metabolic and Structural Consequences of GM3 Synthase Deficiency: Insights from an HEK293-T Knockout Model

GM3合成酶缺乏的代谢和结构后果:来自HEK293-T敲除模型的启示

Chiricozzi, Elena; Lunghi, Giulia; Valsecchi, Manuela; Carsana, Emma Veronica; Bassi, Rosaria; Di Biase, Erika; Dobi, Dorina; Ciampa, Maria Grazia; Mauri, Laura; Aureli, Massimo; Inamori, Kei-Ichiro; Inokuchi, Jin-Ichi; Sonnino, Sandro; Fazzari, Maria

Dietary gangliosides rescue GM3 synthase deficiency outcomes in mice accompanied by neurogenesis in the hippocampus

膳食神经节苷脂可挽救小鼠GM3合成酶缺乏症的后果,并伴有海马神经发生。

Inokuchi, Jin-Ichi; Go, Shinji; Suzuki, Akemi; Nakagawasai, Osamu; Odaira-Satoh, Takayo; Veillon, Lucas; Nitta, Takahiro; McJarrow, Paul; Kanoh, Hirotaka; Inamori, Kei-Ichiro; Tan-No, Koichi; Collett, Michael

Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population

对遗传性痉挛性截瘫患者和普通人群中B4GALNT1新变异体的功能评估

Inamori, Kei-Ichiro; Nakamura, Katsuya; Shishido, Fumi; Hsu, Jia-Chen; Nagafuku, Masakazu; Nitta, Takahiro; Ikeda, Junji; Yoshimura, Hidekane; Kodaira, Minori; Tsuchida, Naomi; Matsumoto, Naomichi; Uemura, Satoshi; Ohno, Shiho; Manabe, Noriyoshi; Yamaguchi, Yoshiki; Togayachi, Akira; Aoki-Kinoshita, Kiyoko F; Nishihara, Shoko; Furukawa, Jun-Ichi; Kaname, Tadashi; Nakamura, Masahiko; Shimohata, Takayoshi; Tadaka, Shu; Shirota, Matsuyuki; Kinoshita, Kengo; Nakamura, Yutaka; Ohno, Isao; Sekijima, Yoshiki; Inokuchi, Jin-Ichi

Perioperative changes in ganglioside monosialodihexosylganglioside (GM3) molecular species for benign prostatic hyperplasia: a preliminary report

良性前列腺增生围手术期神经节苷脂单唾液酸二己糖神经节苷脂 (GM3) 分子种类的变化:初步报告

Anan, Go; Nitta, Takahiro; Kanoh, Hirotaka; Sato, Makoto; Inokuchi, Jin-Ichi

Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL

基于蛋白质不稳定性预测错义变异的致病性,以辅助诊断携带ARSL新变异的患者。

Aoki, Eriko; Manabe, Noriyoshi; Ohno, Shiho; Aoki, Taiga; Furukawa, Jun-Ichi; Togayachi, Akira; Aoki-Kinoshita, Kiyoko; Inokuchi, Jin-Ichi; Kurosawa, Kenji; Kaname, Tadashi; Yamaguchi, Yoshiki; Nishihara, Shoko

Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients

小鼠模型和人类患者的神经节苷脂GM3合成酶缺乏症

Inamori, Kei-Ichiro; Inokuchi, Jin-Ichi

Pathophysiological Significance of GM3 Ganglioside Molecular Species With a Particular Attention to the Metabolic Syndrome Focusing on Toll-Like Receptor 4 Binding

GM3神经节苷脂分子种类的病理生理学意义,尤其关注其与代谢综合征的Toll样受体4结合

Inokuchi, Jin-Ichi; Kanoh, Hirotaka

Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

对与早发性复杂性遗传性痉挛性截瘫伴神经节苷脂合成障碍相关的B4GALNT1新变异进行功能验证

Alecu, Julian Emanuel; Ohmi, Yuhsuke; Bhuiyan, Robiul H; Inamori, Kei-Ichiro; Nitta, Takahiro; Saffari, Afshin; Jumo, Hellen; Ziegler, Marvin; de Gusmao, Claudio Melo; Sharma, Nutan; Ohno, Shiho; Manabe, Noriyoshi; Yamaguchi, Yoshiki; Kambe, Mariko; Furukawa, Keiko; Sahin, Mustafa; Inokuchi, Jin-Ichi; Furakawa, Koichi; Ebrahimi-Fakhari, Darius

Roles of Gangliosides in Hypothalamic Control of Energy Balance: New Insights

神经节苷脂在下丘脑能量平衡调控中的作用:新见解

Inamori, Kei-Ichiro; Inokuchi, Jin-Ichi