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

Structural insights into the photochemistry of the LH1-RC complex from the marine purple phototrophic bacterium Rhodovulum sulfidophilum

对海洋紫色光合细菌硫磺红杆菌(Rhodovulum sulfidophilum)LH1-RC复合物光化学的结构解析

Yue, Xing-Yu; Wang, Guang-Lei; Kosaki, Shinya; Nagashima, Kenji V P; Wu, Yu-Lu; Kobayashi, Yuki; Sugiyama, Tomoya; Kanno, Ryo; Purba, Endang R; Takaichi, Shinichi; Mochizuki, Toshiaki; Mizoguchi, Akira; Humbel, Bruno M; Madigan, Michael T; Mino, Hiroyuki; Tani, Kazutoshi; Kimura, Yukihiro; Wang-Otomo, Zheng-Yu; Yu, Long-Jiang

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis

PBX1同源异型盒结构域的错义变异导致喙锁关节强直

Iwai, Maki; Stuurman, Kyra E; Meagher, Kirsten; Leveille, Lise A; Saisu, Takashi; Mori, Satomi; Kumaki, Tatsuro; Enomoto, Yumi; Aida, Noriko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Patel, Millan S; Kurosawa, Kenji; Nishimura, Gen

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site

通过长读长测序分析揭示了贝克威思-威德曼综合征患者H19/IGF2:IG-DMR区域的甲基化谱特征,这些患者的OCT4/SOX2结合位点存在缺陷。

Masubuchi, Hayate; Urakawa, Tatsuki; Kosaki, Rika; Nishimura, Riki; Wada, Yasunori; Dateki, Sumito; Yagasaki, Hideaki; Kagawa, Reiko; Nishimura, Yutaka; Soejima, Hidenobu; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo

Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population

日本人群中CFTR变异型肺部非结核分枝杆菌病的临床特征

Nagao, Genta; Namkoong, Ho; Tanaka, Hiromu; Asakura, Takanori; Hara, Akemi; Fukunaga, Naoki; Kaji, Masanori; Azekawa, Shuhei; Nakagawara, Kensuke; Morita, Atsuho; Kamata, Hirofumi; Nishimura, Tomoyasu; Miya, Fuyuki; Kosaki, Kenjiro; Fukunaga, Koichi; Holland, Steven M; Hasegawa, Naoki

Multiple Genetic Analysis Unravels Pseudoexon in ATP7B in a Patient with Clinically Diagnosed Wilson Disease

多项基因分析揭示了一名临床诊断为威尔逊病患者的ATP7B基因中存在假外显子

Tezuka, Toshiki; Miya, Fuyuki; Okusa, Shohei; Funayama, Manabu; Hattori, Nobutaka; Kosaki, Kenjiro; Nakahara, Jin; Seki, Morinobu

Association Between Positive End-Expiratory Pressure at Venovenous Extracorporeal Membrane Oxygenation Initiation and Liberation Outcomes in Acute Respiratory Distress Syndrome: A Multicenter Retrospective Study

静脉-静脉体外膜肺氧合启动时呼气末正压与急性呼吸窘迫综合征患者脱离治疗结局之间的关联:一项多中心回顾性研究

Hongo, Takashi; Kosaki, Yoshinori; Yumoto, Tetsuya; Nishikimi, Mitsuaki; Ohshimo, Shinichiro; Shime, Nobuaki; Nakao, Atsunori; Naito, Hiromichi

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report

胎儿快速眼动睡眠功能障碍作为NALCN相关CLIFAHDD综合征的潜在早期指标:病例报告

Fukumori, Fumiya; Maeda, Yoshiki; Maki, Kanemasa; Takenouchi, Toshiki; Kosaki, Kenjiro; Funato, Hiromasa; Kondo, Eiji; Ikeda, Tomoaki

Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond

利用扩展的全外显子组测序提高临床诊断的成本效益:SNV、SV 及其他

Miya, Fuyuki; Nakato, Daisuke; Suzuki, Hisato; Yamada, Mamiko; Watanabe, Daisuke; Takenouchi, Toshiki; Kosaki, Kenjiro

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome

新型双等位基因 CDK9 变异与视网膜营养不良相关,但不伴有 CHARGE 样畸形综合征

Nishina, Sachiko; Torii, Kaoruko; Ishitani, Shizuka; Yoshida, Tomoyo; Fukami, Maki; Kurosawa, Kenji; Kosaki, Kenjiro; Saitsu, Hirotomo; Ishitani, Tohru; Hotta, Yoshihiro

Overexpression of Escherichia coli yaiX Confers Multidrug Resistance and Enhances Virulence in the Silkworm Infection Model

大肠杆菌 yaiX 基因的过表达赋予其多重耐药性,并增强其在蚕感染模型中的毒力。

Hongu, Kinuka; Ishikawa, Kazuya; Kosaki, Tomoki; Miyoshi, Shin-Ichi; Furuta, Kazuyuki; Kaito, Chikara