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

Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids

利用患者来源的视网膜类器官揭示 Stargardt 病的基因型-表型相关性

Avril Watson, Rachel Queen, Luis Ferrández-Peral, Birthe Dorgau, Joseph Collin, Andrew Nelson, Rafiqul Hussain, Jonathan Coxhead, Michael McCorkindale, Robert Atkinson, Darin Zerti, Valeria Chichagova, Ana Conesa, Lyle Armstrong, Frans P M Cremers, Majlinda Lako

Evaluating the outcomes of pluripotent stem-cell-derived photoreceptor transplantation in retinal repair

评估多能干细胞衍生感光细胞移植在视网膜修复中的疗效

Zerti, Darin; Dorgau, Birthe; Sernagor, Evelyne; Armstrong, Lyle; Lako, Majlinda; Hilgen, Gerrit

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects

PRPF8介导的hBrr2解旋酶失调会破坏人类剪接体的动力学和5'剪接位点的选择,从而导致组织特异性缺陷。

Atkinson, Robert; Georgiou, Maria; Yang, Chunbo; Szymanska, Katarzyna; Lahat, Albert; Vasconcelos, Elton J R; Ji, Yanlong; Moya Molina, Marina; Collin, Joseph; Queen, Rachel; Dorgau, Birthe; Watson, Avril; Kurzawa-Akanbi, Marzena; Laws, Ross; Saxena, Abhijit; Shyan Beh, Chia; Siachisumo, Chileleko; Goertler, Franziska; Karwatka, Magdalena; Davey, Tracey; Inglehearn, Chris F; McKibbin, Martin; Lührmann, Reinhard; Steel, David H; Elliott, David J; Armstrong, Lyle; Urlaub, Henning; Ali, Robin R; Grellscheid, Sushma-Nagaraja; Johnson, Colin A; Mozaffari-Jovin, Sina; Lako, Majlinda

Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina

单细胞分析揭示了发育中的人类视网膜睫状缘中存在瞬时视网膜祖细胞

Birthe Dorgau #, Joseph Collin #, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C Sowden, David R FitzPatrick, Rachel Queen, Majlinda Lako

Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation

揭示 PROM1 可变剪接对人类光感受器发育和成熟的影响

Marina Moya-Molina, Birthe Dorgau, Emily Flood, Stef J F Letteboer, Esben Lorentzen, Jonathan Coxhead, Graham Smith, Ronald Roepman, Sushma Nagaraja Grellscheid, Lyle Armstrong, Majlinda Lako

Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation

来自DRAM2依赖性CORD21营养不良患者的视网膜细胞表现出关键溶酶体酶缺乏和溶酶体内容物积聚。

Tsikandelova, Rozaliya; Galo, Eldo; Cerniauskas, Edvinas; Hallam, Dean; Georgiou, Maria; Cerna-Chavez, Rodrigo; Atkinson, Robert; Palmowski, Pavel; Burté, Florence; Davies, Tracey; Steel, David H; McKibbin, Martin; Bond, Jacquelyn; Haggarty, Jennifer; Whitfield, Phil; Korolchuk, Viktor; Armstrong, Lyle; Yang, Chunbo; Dorgau, Birthe; Kurzawa-Akanbi, Marzena; Lako, Majlinda

Deciphering the spatiotemporal transcriptional and chromatin accessibility of human retinal organoid development at the single-cell level

在单细胞水平上揭示人类视网膜类器官发育的时空转录和染色质可及性

Birthe Dorgau, Joseph Collin, Agata Rozanska, Veronika Boczonadi, Marina Moya-Molina, Adrienne Unsworth, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Lyle Armstrong, Rachel Queen, Majlinda Lako

Light-responsive microRNA molecules in human retinal organoids are differentially regulated by distinct wavelengths of light

人类视网膜类器官中的光响应性 microRNA 分子受到不同波长光的不同调节

Canan Celiker, Kamila Weissova, Katerina Amruz Cerna, Jan Oppelt, Birthe Dorgau, Francisco Molina Gambin, Jana Sebestikova, Majlinda Lako, Evelyne Sernagor, Petra Liskova, Tomas Barta

Incorporating microglia-like cells in human induced pluripotent stem cell-derived retinal organoids

将小胶质细胞样细胞整合到人诱导多能干细胞衍生的视网膜类器官中

Valeria Chichagova ,Maria Georgiou ,Madeleine Carter ,Birthe Dorgau ,Gerrit Hilgen ,Joseph Collin ,Rachel Queen ,Git Chung ,Jila Ajeian ,Marina Moya-Molina ,Stefan Kustermann ,Francois Pognan ,Philip Hewitt ,Michael Schmitt ,Evelyne Sernagor ,Lyle Armstrong ,Majlinda Lako

Single-cell RNA sequencing reveals transcriptional changes of human choroidal and retinal pigment epithelium cells during fetal development, in healthy adult and intermediate age-related macular degeneration

单细胞RNA测序揭示了人类脉络膜和视网膜色素上皮细胞在胎儿发育、健康成人以及中度年龄相关性黄斑变性过程中的转录变化

Collin, Joseph; Hasoon, Megan S R; Zerti, Darin; Hammadi, Sarah; Dorgau, Birthe; Clarke, Lucy; Steel, David; Hussain, Rafiqul; Coxhead, Jonathan; Lisgo, Steven; Queen, Rachel; Lako, Majlinda