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

Ablation of prostaglandin E(2) signalling through dual receptor knockout in CAR T cells enhances therapeutic efficacy in solid tumours

通过CAR T细胞中的双受体敲除消除前列腺素E(2)信号传导可增强实体瘤的治疗效果

Dörr, Janina; Gregor, Lisa; Lacher, Sebastian B; Oner, Arman; Sun, Yi; Piseddu, Ignazio; Fertig, Luisa; Spajic, Sebastijan; Lesch, Stefanie; Michaelides, Stefanos; Seifert, Matthias; Gottschlich, Adrian; Samson, Natasha; Majed, Lina; Briukhovetska, Daria; Simnica, Donjetë; Hartmann, Viktoria; Gabriel, Kathrin; Cohen, Sonia; Boland, Genevieve M; Andreu-Sanz, David; Carlini, Emanuele; Stock, Sophia; Holtermann, Anne; Müller, Philipp Jie; Strzalkowski, Thaddäus; Trefny, Marcel P; Endres, Stefan; Jenkins, Russell W; Böttcher, Jan P; Kobold, Sebastian

A reversible allosteric inhibitor of GlyT2 for neuropathic pain without on-target side effects

一种可逆的GlyT2变构抑制剂,用于治疗神经性疼痛,且无靶向副作用。

Cantwell Chater, Ryan P; Peiser-Oliver, Julian; Pati, Tanmay K; Quinn, Ada S; Lotsaris, Irina; Frangos, Zachary J; Anderson, Kristen E; Tischer, Anna E; Williams-Noonan, Billy J; Aubrey, Karin R; O'Mara, Megan L; Michaelides, Michael; Mohammadi, Sarasa A; Cioffi, Christopher L; Vandenberg, Robert J; Shahsavar, Azadeh

Nanoconfined superionic water is a molecular superionic

纳米限域超离子水是一种分子超离子水

Coles, Samuel W; Hajibabaei, Amir; Kapil, Venkat; Advincula, Xavier R; Schran, Christoph; Cox, Stephen J; Michaelides, Angelos

An emerging role for synaptic Zn(2+) in substance use disorders

突触锌离子(Zn(2+))在物质使用障碍中的新兴作用

Solis, Oscar; Curry, Fallon P; Frangos, Zachary J; Dunne, William; Schoenborn, Ingrid; Lauer, Alyssa; Gomez, Juan L; Ventriglia, Emilya N; Bonaventura, Jordi; Michaelides, Michael

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome

USH1C相关Usher综合征的临床表现和分子遗传学

Aychoua, Nancy; de Guimarães, Thales A C; Ponnekanti, Manav B; Sasidharan, Sajin; Leung, Sum-Ping; Ibukun, Folahan Adesola; James, Naomi; Berry, Vanita; Mahroo, Omar A; Webster, Andrew R; Kalitzeos, Angelos; Michaelides, Michel

Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease

ABCA4相关Stargardt病患者眼底自发荧光纵向变化及其与视力的相关性

Ibukun, Folahan; Strauss, Rupert W; Rustam, Zainab; Khan, Muhammad Jehanzeb; Cideciyan, Artur V; Birch, David G; Ho, Alexander; Sunness, Janet S; Audo, Isabelle S; Michaelides, Michel; Zrenner, Eberhart; Traboulsi, Elias I; Bernstein, Paul; Sadda, SriniVas; Ip, Michael S; West, Sheila; Kong, Xiangrong

Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR

对英国十万基因组计划中家族性渗出性玻璃体视网膜病变(FEVR)病例的分析提高了诊断率,并揭示了CTNND1杂合突变与FEVR的关联。

Sun, Dong; Henderson, Robert H; Clement, Emma; Michaelides, Michel; Kalitzeos, Angelos; Wright, Genevieve A; Mcloone, Eibhlin; Inglehearn, Chris; Poulter, James A; Toomes, Carmel

C3 Glomerulonephritis Associated With Anti-complement Factor B Antibodies Following Anti-cancer Treatment With Pembrolizumab

接受帕博利珠单抗抗癌治疗后,出现与抗补体因子B抗体相关的C3肾小球肾炎

Stroppou, Persia; Asaelof, Lucia; Panayides, Alexia; Arsali, Maria; Spartalis, Michalis; Kevrekidou, Sophia; Christofi, Themis; Theophanous, Theophanis; Michaelides, Constantinos; Marchbank, Kevin J; Dimitriou, Kyproula; Kavanagh, David; Mitsides, Nicos

When is nanoconfined water different from interfacial water?

纳米限域水与界面水有何不同?

Advincula, Xavier R; Schran, Christoph; Michaelides, Angelos