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

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

MMD2基因的单等位基因突变会导致常染色体显性遗传的侵袭性牙周炎

Iwata Tomoyuki, Mizoguchi Yoko, Yoshimoto Tetsuya, Tsumura Miyuki, Sakura Fumiaki, Johnson Jeffrey R, Matsuda Shinji, Ouhara Kazuhisa, Nagatani Yukiko, Asano Takaki, Ohnishi Hidenori, Kato Zenichiro, Mihara Keichiro, Kanegane Hirokazu, Ueda Tomoya, Sasaki Shinya, Taniguchi Yuri, Ninomiya Yurika, Ohno Yoshinori, Suzuki-Takedachi Kyoko, Sotomaru Yusuke, Sakuma Tetsushi, Yamamoto Takashi, Matsuda Yukiko, Kume Kodai, Sanui Terukazu, Nishimura Fusanori, Kajiya Mikihito, Ueki Yasuyoshi, Kurihara Hidemi, Morino Hiroyuki, Okada Satoshi, Kawakami Hideshi, Mizuno Noriyoshi

Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics.

Kcnq (Kv7) 通道通过部分电感器样门控动力学表现出频率依赖性响应

Eguchi Yuta, Kuwano Yuki, Okada Satoshi, Morino Hiroyuki, Hashimoto Kouichi

A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP-43 Pathology

一种以显著的星形胶质细胞TDP-43病理为特征的新型肌萎缩侧索硬化症神经病理亚型

Matsubara, Tomoyasu; Izumi, Yuishin; Hatanaka, Yuki; Takahara, Mika; Kondo, Amuro; Matsukura, Kiyoshi; Arakawa, Akira; Haga, Toshihiro; Miyamoto, Ryosuke; Naruse, Hiroya; Morino, Hiroyuki; Toda, Tatsushi; Murayama, Shigeo; Saito, Yuko

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing

通过全外显子组测序诊断的一例巴雷特瑟-温特脑额面综合征病例

Suga, Kenichi; Sato, Hiroki; Suzue, Masashi; Honma, Yukako; Hayabuchi, Yasunobu; Nakagawa, Ryuji; Shinomiya, Kayo; Okamoto, Nobuhiko; Inoue, Yuta; Tsuchida, Naomi; Matsumoto, Naomichi; Morino, Hiroyuki; Izumi, Yuishin; Urushihara, Maki

Pulmonary Arterial Hypertension in Neurofibromatosis Type 1: A Case with a Novel NF1 Gene Mutation

1型神经纤维瘤病合并肺动脉高压:一例携带新型NF1基因突变的病例

Yagi, Shusuke; Kadota, Muneyuki; Bando, Ryo; Miyamoto, Ryosuke; Morino, Hiroyuki; Kakutani, Akiyoshi; Kubo, Yoshiaki; Ise, Takayuki; Ueno, Rie; Hara, Tomoya; Kusunose, Kenya; Yamaguchi, Koji; Yamada, Hirotsugu; Soeki, Takeshi; Wakatsuki, Tetsuzo; Fukuda, Daiju; Sata, Masataka

Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation

MAPT p.K298_H299insQ 突变型 FTDP-17 的临床和病理特征

Morino, Hiroyuki; Kurashige, Takashi; Matsuda, Yukiko; Ono, Maiko; Sahara, Naruhiko; Miyasaka, Tomohiro; Soeda, Yoshiyuki; Shimada, Hitoshi; Yamazaki, Yu; Takahashi, Tetsuya; Izumi, Yuishin; Ito, Hidefumi; Maruyama, Hirofumi; Higuchi, Makoto; Arihiro, Koji; Suhara, Tetsuya; Takashima, Akihiko; Kawakami, Hideshi

Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families

在常染色体隐性遗传性颌骨囊肿家族中发现了OGFRL1功能缺失变异体

Kittaka, Mizuho; Mizuno, Noriyoshi; Morino, Hiroyuki; Yoshimoto, Tetsuya; Zhu, Tianli; Liu, Sheng; Wang, Ziyi; Mayahara, Kotoe; Iio, Kyohei; Kondo, Kaori; Kondo, Toshio; Hayashi, Tatsuhide; Coghlan, Sarah; Teno, Yayoi; Doan, Andrew Anh Phung; Levitan, Marcus; Choi, Roy B; Matsuda, Shinji; Ouhara, Kazuhisa; Wan, Jun; Cassidy, Annelise M; Pelletier, Stephane; Nampoothiri, Sheela; Urtizberea, Andoni J; Robling, Alexander G; Ono, Mitsuaki; Kawakami, Hideshi; Reichenberger, Ernst J; Ueki, Yasuyoshi

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

一种与新型 MORC2 变异相关的介于 CMT2Z 和 DIGFAN 之间的中间表型:病例报告

Hanada, Kenta; Osaki, Yusuke; Miyamoto, Ryosuke; Muto, Kohei; Haji, Shotaro; Nazere, Keyoumu; Kuwano, Yuki; Morino, Hiroyuki; Azuma, Yoshiteru; Miyatake, Satoko; Matsumoto, Naomichi; Izumi, Yuishin

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

APOA1 p.Leu202Arg 变异可能导致常染色体隐性遗传性心脏淀粉样变性。

Yagi, Shusuke; Miyamoto, Ryosuke; Tasaki, Masayoshi; Morino, Hiroyuki; Otani, Ryuji; Kadota, Muneyuki; Ise, Takayuki; Yamazaki, Hiroki; Kusunose, Kenya; Yamaguchi, Koji; Yamada, Hirotsugu; Soeki, Takeshi; Wakatsuki, Tetsuzo; Fukuda, Daiju; Ueda, Mitsuharu; Sata, Masataka

Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report

一例对磷酸盐补充疗法有反应的9型常染色体隐性脊髓小脑性共济失调:病例报告

Haji, Shotaro; Miyamoto, Ryosuke; Morino, Hiroyuki; Osaki, Yusuke; Tsuji, Seijiro; Nishino, Ichizo; Abe, Masahiro; Izumi, Yuishin