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

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

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

Recurrent Pneumothorax in PIEZO2-Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2 in the Respiratory System

PIEZO2相关关节挛缩症的复发性气胸:对PIEZO2在呼吸系统中机械感觉功能的影响

Nakato, Daisuke; Ono, Ikumi; Misu, Kumiko; Miya, Fuyuki; Kosaki, Kenjiro

Clonal diversity shapes the tumour microenvironment leading to distinct immunotherapy responses in metastatic urothelial carcinoma

克隆多样性塑造肿瘤微环境,从而导致转移性尿路上皮癌的免疫治疗反应各不相同。

Kamatani, Takashi; Umeda, Kota; Iwasawa, Tomohiro; Miya, Fuyuki; Matsumoto, Kazuhiro; Mikami, Shuji; Hara, Kensuke; Shimoda, Masayuki; Suzuki, Yutaka; Nishino, Jo; Kato, Mamoru; Kakimi, Kazuhiro; Tanaka, Nobuyuki; Oya, Mototsugu; Tsunoda, Tatsuhiko

Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome

利用表观基因组编辑技术在普拉德-威利综合征的人类细胞模型中拯救印记基因

Nemoto, Akisa; Imaizumi, Kent; Miya, Fuyuki; Hiroi, Yuka; Yamada, Mamiko; Ideno, Hirosato; Saitoh, Shinji; Kosaki, Kenjiro; Okuno, Hironobu; Okano, Hideyuki

An organoid library of human esophageal squamous cell carcinomas (ESCCs) uncovers the chemotherapy-resistant ESCC features.

人类食管鳞状细胞癌 (ESCC) 类器官库揭示了 ESCC 的化疗耐药性特征

Nakagawa Shunsaku, Sato Taku, Ohashi Eriko, Kajita Mihoko, Miya Fuyuki, Yamamoto Kouhei, Yotsumata Hiroki, Yamaguchi Kazuya, Nakajima Yasuaki, Miura Akinori, Kinugasa Yusuke, Ohteki Toshiaki

Gene-based Hardy-Weinberg equilibrium test using genotype count data: application to six types of cancers

基于基因型计数数据的哈迪-温伯格平衡检验:在六种癌症中的应用

Nishino, Jo; Miya, Fuyuki; Kato, Mamoru

BED-Craft for nanopore adaptive sampling: a tool for generating bed files with gene names as input data for enrichment sequencing

用于纳米孔自适应采样的 BED-Craft:一种生成以基因名称作为富集测序输入数据的 BED 文件的工具

Miya, Fuyuki; Kosaki, Kenjiro

Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report

钙调磷酸酶抑制剂治疗成人起病的激素抵抗性肾病综合征伴新型TRPC6剪接供体位点变异:病例报告

Nagasaka, Tomoki; Uchiyama, Kiyotaka; Hama, Eriko Yoshida; Kojima, Daiki; Kaneko, Kenji; Yoshimoto, Norifumi; Yasuda, Itaru; Yamada, Mamiko; Miya, Fuyuki; Suzuki, Hisato; Tajima, Takaya; Yamaguchi, Shintaro; Hayashi, Kaori; Kanda, Takeshi; Hashiguchi, Akinori; Kosaki, Kenjiro; Itoh, Hiroshi