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

GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.

在眼咽远端肌病中,新的开放阅读框内的 GGC 重复扩增被翻译成有毒的聚甘氨酸蛋白。

Boivin Manon, Yu Jiaxi, Eura Nobuyuki, Schmitt Léa, Pietri David, Grandgirard Erwan, Goetz-Reiner Patrice, Plassard Damien, Nahy Chadia, Maglott Anne, Morlet Bastien, Gao Chao, Lefebvre Elise, Philipps Muriel, Eberling Pascal, Pichot Angélique, Rossolillo Paola, Thibault Christelle, Oulad-Abdelghani Mustapha, Nishino Ichizo, Yang Kang, Wang Ning, Wang Zhaoxia, Deng Jianwen, Charlet-Berguerand Nicolas

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status

眼咽远端肌病中致病性CGG重复序列扩增在侧翼序列上表现出每个致病基因的独特特征以及甲基化状态。

Eura, Nobuyuki; Noguchi, Satoru; Ogawa, Megumu; Sonehara, Kyuto; Yamanaka, Ai; Kurashige, Takashi; Hayashi, Shinichiro; Okada, Yukinori; Sugie, Kazuma; Nishino, Ichizo

Zinc finger domains bind low-complexity domain polymers

锌指结构域结合低复杂度结构域聚合物

Iguchi, Naohiko; Isozumi, Noriyoshi; Hattori, Yoshikazu; Imamura, Tomohiro; Yokoyama, Takeshi; So, Masatomo; Nanaura, Hitoki; Kiriyama, Takao; Eura, Nobuyuki; Yamaoka, Minako; Iwasa, Naoki; Shiota, Tomo; Nakanishi, Mari; Konishi, Nanako; Ito, Haruka; Takeuchi, Akihito; Mori, Masashi; Ohki, Shinya; Kumeta, Hiroyuki; Koga, Hironori; Watabe, Mai; Mabuchi, Takuya; Kanemura, Shingo; Okumura, Masaki; Tanaka, Yoshikazu; Morishima, Ken; Sugiyama, Masaaki; Ide, Fumika; Matsumura, Hiroyoshi; Yoshizawa, Takuya; Ota, Ichiro; Suzuki, Naoki; Aoki, Masashi; Yamashiro, Yoshito; Saio, Tomohide; Sugie, Kazuma; Mori, Eiichiro

Artificial intelligence-based tools for patient support to enhance medication adherence: a focused review

基于人工智能的患者支持工具在提高药物依从性方面的应用:一项重点综述

Reis, Zilma Silveira Nogueira; Pereira, Gláucia Miranda Varella; Dias, Cristiane Dos Santos; Lage, Eura Martins; de Oliveira, Isaias José Ramos; Pagano, Adriana Silvina

Genetic analysis using long-read sequencing to overcome the difficulties in VWF gene

利用长读长测序进行遗传分析,以克服VWF基因分析的困难

Ye, Sheng; Eura, Yuka; Matsumoto, Masanori; Kokame, Koichi

Mitral regurgitation is associated with similar loss of von Willebrand factor large multimers but lower frequency of anemia compared with aortic stenosis

二尖瓣反流与主动脉瓣狭窄相比,均伴有血管性血友病因子大分子多聚体的丢失,但贫血的发生率较低。

Takiguchi, Hiroshi; Miura, Mizuki; Shirai, Shin-Ichi; Soga, Yoshimitsu; Hanyu, Michiya; Sakaguchi, Genichi; Soga, Yoshiharu; Arai, Yoshio; Watanabe, Shin; Kimura, Takeshi; Takahama, Hiroyuki; Yasuda, Satoshi; Nakayoshi, Takaharu; Fukumoto, Yoshihiro; Yaoita, Nobuhiro; Shimokawa, Hiroaki; Sakatsume, Ko; Saiki, Yoshikatsu; Kaikita, Koichi; Tsujita, Kenichi; Tamura, Toshihiro; Doman, Tsuyoshi; Yamashita, Mihoko; Suzuki, Misako; Eura, Yuka; Kokame, Koichi; Hayakawa, Masaki; Matsumoto, Masanori; Okubo, Noriyuki; Sugawara, Shingo; Fujimaki, Shin-Ichi; Kawate, Yasunori; Ando, Kenji; Horiuchi, Hisanori

von Willebrand factor Ristocetin co-factor activity to von Willebrand factor antigen level ratio for diagnosis of acquired von Willebrand syndrome caused by aortic stenosis

血管性血友病因子瑞斯托霉素辅因子活性与血管性血友病因子抗原水平比值用于诊断主动脉瓣狭窄引起的获得性血管性血友病

Okubo, Noriyuki; Sugawara, Shingo; Fujiwara, Tohru; Sakatsume, Ko; Doman, Tsuyoshi; Yamashita, Mihoko; Goto, Kota; Tateishi, Masaki; Suzuki, Misako; Shirakawa, Ryutaro; Eura, Yuka; Kokame, Koichi; Hayakawa, Masaki; Matsumoto, Masanori; Kawate, Yasunori; Miura, Mizuki; Takiguchi, Hiroshi; Soga, Yoshimitsu; Shirai, Shinichi; Ando, Kenji; Arai, Yoshio; Nakayoshi, Takaharu; Fukumoto, Yoshihiro; Takahama, Hiroyuki; Yasuda, Satoshi; Tamura, Toshihiro; Watanabe, Shin; Kimura, Takeshi; Yaoita, Nobuhiro; Shimokawa, Hiroaki; Saiki, Yoshikatsu; Kaikita, Koichi; Tsujita, Kenichi; Yoshii, Shinji; Nakase, Hiroshi; Fujimaki, Shin-Ichi; Horiuchi, Hisanori

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3

一名患有钙蛋白酶病的患者携带 CAPN3 基因的复合杂合突变,包括一个新发致病变异 c.1333G>A 和一个新变异 c.1331C>T。

Komaki, Shogo; Kubota, Akatsuki; Katsuse, Kazuto; Kitamura, Asuka; Maeda, Meiko; Matsukawa, Takashi; Eura, Nobuyuki; Saito, Yoshihiko; Nishino, Ichizo; Toda, Tatsushi

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中 LRP12 中的 CGG 重复扩增

Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Eura, Tamaki Kato, Mamoru Yokomura, Yoshiaki

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

一例由新型 PABPN1 c.34G > T (p.Gly12Trp) 点突变引起、无聚丙氨酸扩增的眼咽肌营养不良症病例报告

Takahashi, Yoshiaki; Morimoto, Nobutoshi; Nada, Tomoaki; Morimoto, Mizuki; Eura, Nobuyuki; Minami, Narihiro; Nishino, Ichizo