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

RNF213 p.Arg4810Lys (c.14429G>A) is associated with extracranial arterial stenosis

RNF213 p.Arg4810Lys (c.14429G>A) 与颅外动脉狭窄有关

Daisuke Shimada, Satoru Miyawaki, Kaoru Nakanishi, Takashi Jono, Hibiku Maruoka, Takuya Kawai, Yoichi Harada, Takuji Kono, Koichiro Komatsubara, Jun Nakauchi, Yoshie Matsumoto, Kei Okada, Shogo Dofuku, Hiroki Hongo, Jun Mitsui, Yu Teranishi, Kenta Ohara, Daiichiro Ishigami, Yu Sakai, Hiroyuki Kawano

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications

原发性家族性脑钙化患者尸检的遗传和病理生理学见解:新型 MYORG 变异和星形胶质细胞影响

Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations

眼眶海绵状静脉畸形中的体细胞 GJA4 功能获得性突变

Hiroki Hongo, Satoru Miyawaki, Yu Teranishi, Jun Mitsui, Hiroto Katoh, Daisuke Komura, Kinya Tsubota, Takashi Matsukawa, Masakatsu Watanabe, Masakazu Kurita, Jun Yoshimura, Shogo Dofuku, Kenta Ohara, Daiichiro Ishigami, Atsushi Okano, Motoi Kato, Fumihiko Hakuno, Ayaka Takahashi, Akiko Kunita, Hiroy

Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration

型神经纤维瘤病患者的脑膜瘤主要包括以巨噬细胞浸润为特征的“免疫原性亚型”肿瘤

Yu Teranishi, Satoru Miyawaki, Masahiro Nakatochi, Atsushi Okano, Kenta Ohara, Hiroki Hongo, Daiichiro Ishigami, Yu Sakai, Daisuke Shimada, Shunsaku Takayanagi, Masako Ikemura, Daisuke Komura, Hiroto Katoh, Jun Mitsui, Shinichi Morishita, Tetsuo Ushiku, Shumpei Ishikawa, Hirofumi Nakatomi, Nobuhito

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

使用患者来源的 iPS 细胞对特发性基底神经节钙化中的 PDGFB 变体进行功能评估

Shin-Ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, Yuhei Ninomiya, Hisaka Kurita, Masatoshi Inden, Megumi Yamada, Yuichi Hayashi, Takashi Inuzuka, Jun Mitsui, Hiroyuki Ishiura, Atsushi Iwata, Hiroto Fujigasaki, Hisamitsu Tamaki, Ryusei Tamaki, Shinsuke Kito, Yoshiharu Taguchi, Kortaro Tanaka, Naoki

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

多系统萎缩患者 iPSC 衍生神经元中辅酶 Q10 不足与发病机制相关

Fumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, Takefumi Sone, Mitsuru Ishikawa, Yorihiro Yamamoto, Yumi Kanegae, Yuhki Nakatake, Kent Imaizumi, Hiroyuki Ishiura, Shoji Tsuji, Hideyuki Okano

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells

无羊膜介导的糖基化对于肾脏和肠道细胞中 cubilin 的细胞表面靶向至关重要

Tomohiro Udagawa, Yutaka Harita, Kenichiro Miura, Jun Mitsui, Koji L Ode, Shinichi Morishita, Seiya Urae, Shoichiro Kanda, Yuko Kajiho, Haruko Tsurumi, Hiroki R Ueda, Shoji Tsuji, Akihiko Saito, Akira Oka

Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene

使用 TALEN 介导的 SCN1A 基因编辑从 Dravet 综合征患者 iPSC 生成 D1-1 TALEN 同源对照细胞系

Yasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, Tetsushi Sakuma, Sadafumi Suzuki, Mitsuru Ishikawa, Takashi Yamamoto, Jun Mitsui, Hitomi Tsuji, Hideyuki Okano, Shinichi Hirose

A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient

LAMA2 纯合突变 c.818G>A 导致日本患者出现部分美罗星缺乏症

Akatsuki Kubota, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Atsushi Iwata, Tomotaka Yamamoto, Ichizo Nishino, Shoji Tsuji, Jun Shimizu

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2

MME 突变会导致常染色体隐性遗传的 2 型夏科-马里-图斯病

Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Satoshi Ishihara, Hajime Tanabe, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Ryuichi Ohkubo, Saeko Inamizu, Wataru Shiraishi, Ryo Yamasaki, Yasumasa Ohyagi, Jun-ichi Kira, Yasushi Oya, Hay