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

Successful large gene augmentation of USH2A with non-viral episomal vectors

利用非病毒游离载体成功扩增 USH2A 基因

Maria Toms, Lyes Toualbi, Patrick V Almeida, Richard Harbottle, Mariya Moosajee

Identification of the regulatory circuit governing corneal epithelial fate determination and disease

识别调控角膜上皮细胞命运决定和疾病的调控回路

Jos G A Smits ,Dulce Lima Cunha ,Maryam Amini ,Marina Bertolin ,Camille Laberthonnière ,Jieqiong Qu ,Nicholas Owen ,Lorenz Latta ,Berthold Seitz ,Lauriane N Roux ,Tanja Stachon ,Stefano Ferrari ,Mariya Moosajee ,Daniel Aberdam ,Nora Szentmary ,Simon J van Heeringen ,Huiqing Zhou

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

使用重新利用的无义抑制药物恢复无虹膜患者 iPSC 衍生眼组织模型中的功能性 PAX6

Dulce Lima Cunha, Hajrah Sarkar, Jonathan Eintracht, Philippa Harding, Jo Huiqing Zhou, Mariya Moosajee

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina

面包屑细胞极性复合物的丧失会破坏发育中的视网膜中的表观遗传转录控制和细胞周期进程

Nicholas Owen, Maria Toms, Yuan Tian, Lyes Toualbi, Rose Richardson, Rodrigo Young, Dhani Tracey-White, Pawan Dhami, Stephan Beck, Mariya Moosajee

Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species

通过对四种脊椎动物物种的保守基因表达分析,鉴定出新的眼裂缺损候选基因

Violeta Trejo-Reveles ,Nicholas Owen ,Brian Ho Ching Chan ,Maria Toms ,Jeffrey J Schoenebeck ,Mariya Moosajee ,Joe Rainger

Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia

在脉络膜缺失症模型中使用非病毒游离载体进行 CHM 基因扩增

Lyes Toualbi, Maria Toms, Patrick Vingadas Almeida, Richard Harbottle, Mariya Moosajee

Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population

铁氧还蛋白还原酶相关线粒体病的临床研究:墨西哥人群的基因型-表型相关性和基于血统的携带者筛查建议

Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Amy Yang, Mariya Moosajee, Chiara La Morgia, Valerio Carelli, Flavia Palombo, Matthew A Lines, A Micheil Innes, Rebecca J Levy, Derek Neilson, Nicola Longo, Taosheng Huang

Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia

氧化应激和内质网应激是无脉络膜症的新治疗靶点

Hajrah Sarkar, Manuela Lahne, Neelima Nair, Mariya Moosajee

Müller Glia maintain their regenerative potential despite degeneration in the aged zebrafish retina

尽管斑马鱼老年视网膜出现退化,穆勒胶质细胞仍保持其再生潜力

Raquel R Martins, Mazen Zamzam, Dhani Tracey-White, Mariya Moosajee, Ryan Thummel, Catarina M Henriques, Ryan B MacDonald

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

通过进化保守的脊椎动物基因分析鉴定出 4 个新的人类眼部缺损基因 ANK3、BMPR1B、PDGFRA 和 CDH4

Nicholas Owen, Maria Toms, Rodrigo M Young, Jonathan Eintracht, Hajrah Sarkar, Brian P Brooks, Mariya Moosajee; Genomics England Research Consortium