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

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies

FHL1相关肌病中骨骼肌脂肪替代的时间和空间分布

Shimazaki, Rui; Noguchi, Satoru; Takizawa, Hotake; Oya, Yasushi; Takahashi, Yuji; Komaki, Hirofumi; Arahata, Hajime; Hayashi, Shinichiro; Nishino, Ichizo

Microscopic Polyangiitis Initially Suspected of Being Anti-synthetase Syndrome

显微镜下多血管炎最初被怀疑是抗合成酶综合征

Tsujihata, Tomoo; Miyake, Hirofumi; Iwai-Kanai, Eri; Sumiyoshi, Shinji; Kubo, Takeshi; Nishino, Ichizo; Hatta, Kazuhiro

High Turnover Frequency in the Electrocatalytic Reduction of Nitrous Oxide to Dinitrogen at a Binuclear Copper Complex of 3,5-Diamino-1,2,4-Triazole

3,5-二氨基-1,2,4-三唑双核铜配合物电催化还原一氧化二氮生成氮气的高周转频率

Ma, Zhengwei; Kato, Masaru; Pirillo, Jenny; Hijikata, Yuh; Watanabe, Takeshi; Uemura, Yohei; Lu, Bang; Takakusagi, Satoru; Kimijima, Ken'ichi; Notsu, Hideo; Yagi, Ichizo

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

Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy.

铁剂补充可缓解面肩肱型肌营养不良小鼠模型的病理症状

Nakamura Kodai, Ortuste Quiroga Huascar Pedro, Horii Naoki, Fujimaki Shin, Moroishi Toshiro, Nakayama Keiichi I, Hino Shinjiro, Saito Yoshihiko, Nishino Ichizo, Ono Yusuke

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

High Airway-To-Vessel Volume Ratio and Visual Bronchiectasis Are Associated With Exacerbations in COPD

高气道血管容积比和肉眼可见的支气管扩张与慢性阻塞性肺疾病急性加重相关

Wakazono, Nobuyasu; Shimizu, Kaoruko; Tanabe, Naoya; Oguma, Akira; Makita, Hironi; Okada, Kazufumi; Wakazono, Miho; Nishimura, Hiroki; Kojima, Yuichi; Takimoto-Sato, Michiko; Matsumoto, Munehiro; Abe, Yuki; Igarashi-Sugimoto, Ayako; Takei, Nozomu; Kimura, Hirokazu; Goudarzi, Houman; Hattori, Takeshi; Tsujino, Ichizo; Sato, Susumu; Muro, Shigeo; Nishimura, Masaharu; Hirai, Toyohiro; Konno, Satoshi