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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Evolving Consultation: Enhancing Ophthalmic Diagnostic Performance Using Large Language Model

不断发展的咨询:利用大型语言模型提升眼科诊断性能

Inooka, Taiga; Ota, Hikaru; Taki, Yosuke; Yasuda, Sayuri; Sajiki, Ai Fujita; Suzumura, Ayana; Shimizu, Hideyuki; Takeuchi, Jun; Tomita, Ryo; Kominami, Taro; Ushida, Hiroaki; Yuki, Kenya; Nishiguchi, Koji M

PBAE-PEG-based lipid nanoparticles for lung cell-specific gene delivery

用于肺细胞特异性基因递送的基于PBAE-PEG的脂质纳米颗粒

Bingxin Liu ,Yamato Sajiki ,Nicole Littlefield ,Yongan Hu ,William D Stuart ,Anusha Sridharan ,Xuemei Cui ,Matthew E Siefert ,Koichi Araki ,Assem G Ziady ,Donglu Shi ,Jeffery A Whitsett ,Yutaka Maeda

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review

西罗莫司成功治疗一例携带新型CARD11种系突变导致B细胞扩增伴核因子κB和T细胞无反应性的患者:病例报告及文献综述

Nishinosono, Tsubasa; Muramatsu, Hideki; Wakamatsu, Manabu; Yamashita, Daiki; Fukasawa, Tatsuya; Shirakawa, Yuichi; Sajiki, Daichi; Maemura, Ryo; Tsumura, Yusuke; Yamamori, Ayako; Narita, Kotaro; Kataoka, Shinsuke; Narita, Atsushi; Nishio, Nobuhiro; Miyajima, Yuji; Takahashi, Yoshiyuki

Application of Metagenomic Long-Read Sequencing for the Diagnosis of Herpetic Uveitis

应用宏基因组长读长测序技术诊断疱疹性葡萄膜炎

Yoshito Koyanagi ,Ai Fujita Sajiki ,Kenya Yuki ,Hiroaki Ushida ,Kenichi Kawano ,Kosuke Fujita ,Hideyuki Shimizu ,Daishi Okuda ,Mitsuki Kosaka ,Kazuhisa Yamada ,Ayana Suzumura ,Shu Kachi ,Hiroki Kaneko ,Hiroyuki Komatsu ,Yoshihiko Usui ,Hiroshi Goto ,Koji M Nishiguchi

Evaluation of the loading capacity and patterns of packaged DNA in AAV genomes of different sizes using long-read sequencing.

利用长读长测序技术评估不同大小的 AAV 基因组中包装 DNA 的装载能力和模式

Kosaka Mitsuki, Sajiki Ai Fujita, Fujita Kosuke, Yamada Kazuhisa, Kawano Kenichi, Hirazawa Kiichi, Matsuno Tsuyoshi, Takada Masahiko, Shimozawa Nobuhiro, Inoue Ken-Ichi, Yuki Kenya, Nishiguchi Koji M

Safety and efficacy of retreatment with immune checkpoint inhibitors after severe immune-related adverse events

严重免疫相关不良事件后再次使用免疫检查点抑制剂治疗的安全性和有效性

Mizuno, Kazuyuki; Ito, Takanori; Sawada, Tsunaki; Kobayashi, Tomoko; Iwama, Shintaro; Mori, Shoichiro; Hase, Tetsunari; Fukami, Yuki; Furusawa, Kenji; Yura, Yoshimitsu; Morimoto, Ryota; Sajiki, Ai Fujita; Ushida, Hiroaki; Kato, Noritoshi; Maruyama, Shoichi; Murohara, Toyoaki; Katsuno, Masahisa; Ishii, Makoto; Akiyama, Masashi; Arima, Hiroshi; Kawashima, Hiroki; Ando, Yuichi

Impact of 10% vs. 5% immunoglobulin products on treatment outcomes in Kawasaki disease: a multicenter retrospective study

10%与5%免疫球蛋白产品对川崎病治疗结果的影响:一项多中心回顾性研究

Sajiki, Daichi; Nishio, Nobuhiro; Kato, Taichi; Hirao, Takashi; Suzuki, Kentaro; Go, Kiyotaka; Kinoshita, Fumie; Kidokoro, Hiroyuki; Kawada, Jun-Ichi; Sato, Yoshiaki; Takahashi, Yoshiyuki

Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

EYS相关性视网膜色素变性的眼底自发荧光特征

Kominami, Taro; Tan, Tien-En; Ushida, Hiroaki; Jain, Kanika; Goto, Kensuke; Bylstra, Yasmin M; Sajiki, Ai Fujita; Mathur, Ranjana S; Ota, Junya; Lim, Weng Khong; Nishiguchi, Koji M; Fenner, Beau J

Functional heterogeneity and plasticity in naïve CD8 T cells drive superior effector and memory responses

初始CD8 T细胞的功能异质性和可塑性驱动更优的效应和记忆反应

Sajiki, Yamato; Ando, Satomi; Perkins, Charles M; Huang, Yi-Chung; Smith, Katie E; Doerning, Carolyn M; Araki, Koichi