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

Multinational cost-utility analysis of panel-based pharmacogenetics-guided treatment of patients enrolled in the U-PGx PREPARE study

对参与 U-PGx PREPARE 研究的患者进行基于基因组药物遗传学指导治疗的多国成本效益分析

Fragoulakis, Vasileios; Swen, Jesse J; Koufaki, Margarita-Ioanna; Blagec, Kathrin; Blagus, Tanja; Böhringer, Stefan; Cambon-Thomsen, Anne; Cecchin, Erika; Cheung, Ka-Chun; Deneer, Vera H M; Dupui, Mathilde; Jonsson, Siv; Joefield-Roka, Candace; Just, Katja S; Karlsson, Mats O; Konta, Lidija; Koopmann, Rudolf; Kriek, Marjolein; Lehr, Thorsten; Manson, Lisanne E N; Rial-Sebbag, Emmanuelle; Rollinson, Victoria; Roncato, Rossana; Samwald, Matthias; Schaeffeler, Elke; Skokou, Maria; Schwab, Matthias; Steinberger, Daniela; Stingl, Julia C; Tremmel, Roman; Turner, Richard M; van Rhenen, Mandy H; van der Wouden, Cathelijne H; Dávila-Fajardo, Cristina Lucía; Dolžan, Vita; Pirmohamed, Munir; Sunder-Plassmann, Gere; Toffoli, Giuseppe; Guchelaar, Henk-Jan; Patrinos, George P; Mitropoulou, Christina

THP-1-derived polarized macrophages differ by drug transporter transcriptomics, P-glycoprotein activity and rifampicin uptake kinetics

THP-1来源的极化巨噬细胞在药物转运体转录组学、P-糖蛋白活性和利福平摄取动力学方面存在差异。

Hamburg, Katharina; Bay, Cindy; Burhenne, Jürgen; Weiss, Johanna; Stingl, Julia C; Theile, Dirk

Novel paracellular marker based on ᴅ-dipeptide structure for highly sensitive quantification with UPLC-MS/MS for in vitro and in vivo blood-brain barrier permeability analysis

基于D-二肽结构的新型细胞旁路标志物,可通过UPLC-MS/MS进行高灵敏度定量分析,用于体外和体内血脑屏障通透性分析。

Bay, Cindy; Mühlberg, Eric; Uhl, Philipp; Stingl, Julia Carolin; Bajraktari-Sylejmani, Gzona; Burhenne, Jürgen; Weiss, Johanna; Sauter, Max

Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial

视网膜下基因补充疗法治疗PDE6A相关性视网膜色素变性的安全性和视力结果:一项非随机对照试验

Reichel, Felix F; Fischer, M Dominik; Stingl, Katarina; Kuehlewein, Laura; Seitz, Immanuel; Peters, Tobias; Ziegler, Melanie; Wilhelm, Barbara; Kohl, Susanne; Weisschuh, Nicole; Martus, Peter; Seeliger, Mathias; Muehlfriedel, Regine; Paquet-Durand, Francois; Tsang, Stephen H; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhart; Biel, Martin; Wissinger, Bernd; Michalakis, Stylianos

Fast ERG 15 Hz flicker protocol for assessing functional changes in the rod system

快速ERG 15 Hz闪烁方案用于评估视杆系统的功能变化

Czarnek-Chudzik, Aleksandra; Righetti, Giulia; Jung, Ronja; Kempf, Melanie; Cuevas Villanueva, Veronica; Nowomiejska, Katarzyna; Rejdak, Robert; Zrenner, Eberhart; Stingl, Katarina; Stingl, Krunoslav

The role of pharmacogenomics in personalized medicine

药物基因组学在个性化医疗中的作用

Božina, Nada; Stingl, Julia Carolin

Retinal microstructual and microvascular changes in mucopolysaccharidoses

粘多糖贮积症的视网膜微结构和微血管变化

Wipprecht, Lucas; Borchers, Anna J; Stingl, Julia V; Schmitz, Lucia Segura; von Plettenberg, Karoline; Hennermann, Julia B; Hopf, Susanne; Pitz, Susanne; Matlach, Juliane

Seasonal dynamics, antimicrobial resistance, and genetic lineages of thermotolerant Campylobacter isolates from South American camelids

南美骆驼科动物耐热弯曲杆菌分离株的季节性动态、抗菌素耐药性和遗传谱系

Moe, Aung Zaw; Heydel, Carsten; Wagner, Henrik; Ulrich, Lisa; Semmler, Torsten; Stingl, Kerstin; Raikwar, Priyanshu Singh; Sheppard, Samuel K; Ewers, Christa

New SAR11 isolate genomes and global marine metagenomes resolve ecologically relevant units within the Pelagibacterales

新分离的SAR11菌株基因组和全球海洋宏基因组解析了海洋杆菌目中具有生态意义的单元。

Freel, Kelle C; Tucker, Sarah J; Freel, Evan B; Stingl, Ulrich; Giovannoni, Stephen J; Eren, A Murat; Rappé, Michael S