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

Fine-tuning FAM161A gene augmentation therapy to restore retinal function

微调 FAM161A 基因增强疗法以恢复视网膜功能

Yvan Arsenijevic #, Ning Chang #, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis-Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic

A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseases

识别引导 RNA 序列的流程,这些序列可促进 RNA 编辑导致遗传性视网膜疾病的无义突变

Nina Schneider, Ricky Steinberg, Amit Ben-David, Johanna Valensi, Galit David-Kadoch, Zohar Rosenwasser, Eyal Banin, Erez Y Levanon, Dror Sharon, Shay Ben-Aroya

Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa

基因增强疗法可减轻 Fam161a 视网膜色素变性基因敲除小鼠模型中的视网膜变性

Chen Matsevich, Prakadeeswari Gopalakrishnan, Ning Chang, Alexey Obolensky, Avigail Beryozkin, Manar Salameh, Corinne Kostic, Dror Sharon, Yvan Arsenijevic, Eyal Banin

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

USH2A 相关疾病的全基因组测序揭示了几种易于剪接校正的致病深内含子变异

Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E Weener, Lubica Dudakova, Petra Liskova, Dror Sharon,

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

Cep250 纯合敲除导致小鼠相对较晚发生视网膜变性和神经性听力损失

Alaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, Marije de Jong, Alexey Obolensky, Ayat Khalaileh, Manar Salameh, Ayala Ejzenberg, Menachem Gross, Eyal Banin, Dror Sharon, Samer Khateb

Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A- p.Arg523∗ Human Nonsense Pathogenic Variant

FAM161A- p.Arg523∗ 人类无义致病变异的敲入小鼠模型中的视网膜结构和功能

Chen Matsevich, Prakadeeswari Gopalakrishnan, Alexey Obolensky, Eyal Banin, Dror Sharon, Avigail Beryozkin

Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A

翻译通读药物 (TRID) 能够恢复因 FAM161A 中过早终止密码子引起的视网膜色素变性患者的成纤维细胞中的蛋白质表达和纤毛生成

Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, Samer Khateb, Eyal Banin, Dror Sharon, Kerstin Nagel-Wolfrum

A new mouse model for retinal degeneration due to Fam161a deficiency

Fam161a 缺乏导致视网膜变性的新小鼠模型

Avigail Beryozkin, Chen Matsevich, Alexey Obolensky, Corinne Kostic, Yvan Arsenijevic, Uwe Wolfrum, Eyal Banin, Dror Sharon

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

CNGB3基因深内含子变异通过假外显子激活导致全色盲

Nicole Weisschuh ,Marc Sturm ,Britta Baumann ,Isabelle Audo ,Carmen Ayuso ,Beatrice Bocquet ,Kari Branham ,Brian P Brooks ,Jaume Catalá-Mora ,Roberto Giorda ,John R Heckenlively ,Robert B Hufnagel ,Samuel G Jacobson ,Ulrich Kellner ,Sofia Kitsiou-Tzeli ,Alexandre Matet ,Loreto Martorell Sampol ,Isabelle Meunier ,Günther Rudolph ,Dror Sharon ,Katarina Stingl ,Berthold Streubel ,Balázs Varsányi ,Bernd Wissinger ,Susanne Kohl

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

全外显子组测序与临床分析相结合可以更好地诊断罕见的综合征性视网膜营养不良

Alaa Abu Diab, Ala'a AlTalbishi, Boris Rosin, Moien Kanaan, Lara Kamal, Anand Swaroop, Itay Chowers, Eyal Banin, Dror Sharon, Samer Khateb