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T

Tomonari Awaya

Graduate School of Medicine
H指数:25
被引数:1,835

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Substitutions of nucleotides at the 3′ ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies

COL6A1/2/3外显子3′末端的核苷酸替换会诱导外显子跳读，这与VI型胶原相关肌营养不良症及治疗策略相关。

GENETICS IN MEDICINE
IF6.2
2025-07-010
PRE
Lee, Seung-Ah; Ogawa, Megumu; Saito, Yoshihiko; Shimazaki, Rui; Awaya, Tomonari; Hosokawa, Motoyasu; Kurosawa, Ryo; Ohara, Hiroaki; Takeuchi, Akihide; Hayashi, Shinichiro; Goto, Yu-ichi; Hagiwara, Masatoshi; Nishino, Ichizo; Noguchi, Satoru
Comparison of the social responsiveness scale-2 among individuals with Autism Spectrum Disorder and Williams Syndrome in Japan (Sep, 10.1007/s10803-022-05740-7, 2022)
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
2022-12-090
OA
Hirai, Masahiro; Asada, Kosuke; Kato, Takeo; Ikeda, Takahiro; Hakuno, Yoko; Ikeda, Ayaka; Matsushima, Kanae; Awaya, Tomonari; Okazaki, Shin; Kato, Toshihiro; Funabiki, Yasuko; Murai, Toshiya; Heike, Toshio; Hagiwara, Masatoshi; Yamagata, Takanori; Tomiwa, Kiyotaka; Kimura, Ryo
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
HUMAN GENETICS
IF3.6
2022-09-0118
PRE
Okubo, Mariko; Noguchi, Satoru; Awaya, Tomonari; Hosokawa, Motoyasu; Tsukui, Nobue; Ogawa, Megumu; Hayashi, Shinichiro; Komaki, Hirofumi; Mori-Yoshimura, Madoka; Oya, Yasushi; Takahashi, Yuji; Fukuyama, Tetsuhiro; Funato, Michinori; Hosokawa, Yousuke; Kinoshita, Satoru; Matsumura, Tsuyoshi; Nakamura, Sadao; Oshiro, Azusa; Terashima, Hiroshi; Nagasawa, Tetsuro; Sato, Tatsuharu; Shimada, Yumi; Tokita, Yasuko; Hagiwara, Masatoshi; Ogata, Katsuhisa; Nishino, Ichizo
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia (Jul, 10.1038/s41467-021-24705-5, 2021)

用小分子治疗IKBKAP错误剪接以治疗家族性自主神经功能障碍 (7月，10.1038/s41467-021-24705-5，2021)

NATURE COMMUNICATIONS
IF15.7
2021-10-120
OAAI
Ajiro, Masahiko; Awaya, Tomonari; Kim, Young Jin; Iida, Kei; Denawa, Masatsugu; Tanaka, Nobuo; Kurosawa, Ryo; Matsushima, Shingo; Shibata, Saiko; Sakamoto, Tetsunori; Studer, Lorenz; Krainer, Adrian R.; Hagiwara, Masatoshi

研究方向

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M
Masatoshi Hagiwara
H 指数:75论文数:514被引数:2.4万
R
Ryo Kimura
H 指数:32论文数:151被引数:3,705
T
Takeo Kato
H 指数:19论文数:113被引数:1,949
R
Ryo Kurosawa
H 指数:7论文数:24被引数:250
Y
Yasuko Funabiki
H 指数:18论文数:63被引数:1,114
K
Kiyotaka Tomiwa
H 指数:18论文数:77被引数:1,099
T
Toshiya Murai
H 指数:45论文数:564被引数:7,735
T
Toshio Heike
H 指数:34论文数:114被引数:6,168
S
Shin Okazaki
H 指数:17论文数:143被引数:1,119
I
Ichizo Nishino
H 指数:87论文数:1,190被引数:4.2万