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

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

人类耳聋相关变异会改变毛细胞立体纤毛F-肌动蛋白核心中关键分子的动力学

Miyoshi, Takushi; Belyantseva, Inna A; Kitajiri, Shin-Ichiro; Miyajima, Hiroki; Nishio, Shin-Ya; Usami, Shin-Ichi; Kim, Bong Jik; Choi, Byung Yoon; Omori, Koichi; Shroff, Hari; Friedman, Thomas B

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

POLD1 变异导致聚合酶活性降低,可引起听力损失,但无综合征特征。

Oh, Doo-Yi; Matsumoto, Yoshihiro; Kitajiri, Shin-Ichiro; Kim, Nayoung K D; Kim, Min Young; Kim, Ah Reum; Lee, Mingyu; Lee, Chung; Tomkinson, Alan E; Katsuno, Tatsuya; Kim, So Young; Shin, Hyun-Woo; Han, Jin Hee; Lee, Seungmin; Park, Woong-Yang; Choi, Byung Yoon

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss

导致迟发性进行性听力损失的MYO6变异体的临床特征和体外分析

Oka, Shin-Ichiro; Day, Timothy F; Nishio, Shin-Ya; Moteki, Hideaki; Miyagawa, Maiko; Morita, Shinya; Izumi, Shuji; Ikezono, Tetsuo; Abe, Satoko; Nakayama, Jun; Hyogo, Misako; Okamoto, Nobuhiko; Uehara, Natsumi; Oshikawa, Chie; Kitajiri, Shin-Ichiro; Usami, Shin-Ichi

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

中频听力损失是耳鼻喉科相关听力损失的特征性临床表现。

Sugiyama, Kenjiro; Moteki, Hideaki; Kitajiri, Shin-Ichiro; Kitano, Tomohiro; Nishio, Shin-Ya; Yamaguchi, Tomomi; Wakui, Keiko; Abe, Satoko; Ozaki, Akiko; Motegi, Remi; Matsui, Hirooki; Teraoka, Masato; Kobayashi, Yumiko; Kosho, Tomoki; Usami, Shin-Ichi

A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

小鼠肌球蛋白VI的一种新型剪接位点突变导致内耳毛细胞顶端区域肌动蛋白网络破坏,进而引起立体纤毛融合。

Seki, Yuta; Miyasaka, Yuki; Suzuki, Sari; Wada, Kenta; Yasuda, Shumpei P; Matsuoka, Kunie; Ohshiba, Yasuhiro; Endo, Kentaro; Ishii, Rie; Shitara, Hiroshi; Kitajiri, Shin-Ichiro; Nakagata, Naomi; Takebayashi, Hirohide; Kikkawa, Yoshiaki

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

日本人群中导致遗传性听力损失的GJB2基因突变的携带者频率

Taniguchi, Mirei; Matsuo, Hirotaka; Shimizu, Seiko; Nakayama, Akiyoshi; Suzuki, Koji; Hamajima, Nobuyuki; Shinomiya, Nariyoshi; Nishio, Shinya; Kosugi, Shinji; Usami, Shin-Ichi; Ito, Juichi; Kitajiri, Shin-ichiro

Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells

闭合蛋白缺陷小鼠出现耳聋,表现为三细胞连接蛋白脱位和毛细胞进行性凋亡。

Kitajiri, Shin-Ichiro; Katsuno, Tatsuya; Sasaki, Hiroyuki; Ito, Juichi; Furuse, Mikio; Tsukita, Shoichiro

Tricellulin is a tight-junction protein necessary for hearing.

三细胞连接蛋白是一种紧密连接蛋白,对听力至关重要

Riazuddin Saima, Ahmed Zubair M, Fanning Alan S, Lagziel Ayala, Kitajiri Shin-ichiro, Ramzan Khushnooda, Khan Shaheen N, Chattaraj Parna, Friedman Penelope L, Anderson James M, Belyantseva Inna A, Forge Andrew, Riazuddin Sheikh, Friedman Thomas B