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

iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function

黄斑血管扩张症患者的 iPSC 衍生视网膜色素上皮细胞显示线粒体功能下降

Kevin T Eade, Brendan Robert E Ansell, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Takayuki Nagasaki, Simone Tzaridis, Martina Wallace, Elizabeth A Mills, Samaneh Farashi, Alec Johnson, Lydia Sauer, Barbara Hart, M Elena Diaz-Rubio, Melanie Bahlo, Christian Metallo, Rando Allikmets, Marin L Gant

Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture

建立 Stargardt 病患者的 iPSC 系 CUIMCi005-A 用于视网膜类器官培养

Pei-Yin Su, Winston Lee, Jana Zernant, Stephen H Tsang, Takayuki Nagasaki, Barbara Corneo, Rando Allikmets

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

识别和挽救导致 Stargardt 病的两个相邻深内含子 ABCA4 突变的剪接缺陷

Silvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M Bax, Carel B Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W J Collin, Frans P M Cremers

A non-retinoid antagonist of retinol-binding protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle

视黄醇结合蛋白 4 的非类视黄醇拮抗剂可在不抑制视觉周期的情况下挽救 Stargardt 病模型中的表型

Boglarka Racz, Andras Varadi, Jian Kong, Rando Allikmets, Paul G Pearson, Graham Johnson, Christopher L Cioffi, Konstantin Petrukhin

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes

ABCA4疾病的复杂遗传模式:一个家族中存在四种突变,并表现出多种黄斑表型

Winston Lee,Yajing Xie,Jana Zernant,Bo Yuan,Srilaxmi Bearelly,Stephen H Tsang,James R Lupski,Rando Allikmets

New best1 mutations in autosomal recessive bestrophinopathy

常染色体隐性遗传性肌营养不良症中的新 best1 突变

Adrian T Fung, Suzanne Yzer, Naomi Goldberg, Hao Wang, Michael Nissen, Alfonso Giovannini, Joanna E Merriam, Elena N Bukanova, Carolyn Cai, Lawrence A Yannuzzi, Stephen H Tsang, Rando Allikmets

A1120, a nonretinoid RBP4 antagonist, inhibits formation of cytotoxic bisretinoids in the animal model of enhanced retinal lipofuscinogenesis

A1120 是一种非类视黄酸 RBP4 拮抗剂,可抑制视网膜脂褐素生成增强的动物模型中细胞毒性双视黄酸的形成

Nicoleta Dobri, Qiong Qin, Jian Kong, Kazunori Yamamoto, Zhao Liu, Gennadiy Moiseyev, Jian-Xing Ma, Rando Allikmets, Janet R Sparrow, Konstantin Petrukhin

Identification of a potential susceptibility locus for macular telangiectasia type 2

识别 2 型黄斑毛细血管扩张症的潜在易感基因位点

Nancy L Parmalee, Carl Schubert, Maria Figueroa, Alan C Bird, Tunde Peto, Mark C Gillies, Paul S Bernstein, Krzysztof Kiryluk, Joseph D Terwilliger, Rando Allikmets; MacTel Project