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

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

反义寡核苷酸疗法可纠正常见的 Stargardt 病 1 型致病变异 ABCA4 c.5461-10T>C 的剪接

Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R Webster, Rob W J Collin, Michael E Cheetham, Gerard Platenburg, Jim Swildens

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

反义寡核苷酸治疗 USH2A 外显子 13 突变引起的视网膜色素变性

Kalyan Dulla, Ralph Slijkerman, Hester C van Diepen, Silvia Albert, Margo Dona, Wouter Beumer, Janne J Turunen, Hee Lam Chan, Iris A Schulkens, Lars Vorthoren, Cathaline den Besten, Levi Buil, Iris Schmidt, Jiayi Miao, Hanka Venselaar, Jingjing Zang, Stephan C F Neuhauss, Theo Peters, Sanne Broekman

Evaluation of eluforsen, a novel RNA oligonucleotide for restoration of CFTR function in in vitro and murine models of p.Phe508del cystic fibrosis

评估新型 RNA 寡核苷酸 eluforsen 在体外和小鼠 p.Phe508del 囊性纤维化模型中恢复 CFTR 功能的效果

Wouter Beumer, Jim Swildens, Teresinha Leal, Sabrina Noel, Herma Anthonijsz, Geert van der Horst, Hester Kuiperij-Boersma, Marko Potman, Charlotte van Putten, Patricia Biasutto, Gerard Platenburg, Hugo de Jonge, Noreen Henig, Tita Ritsema

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

剪接调节寡核苷酸 QR-110 可恢复人类 c.2991+1655A>G LCA10 模型中的 CEP290 mRNA 和功能

Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A Parfitt, Iris Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W J Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panes, Ma'ayan Semo, Anthony A Vugler, Patricia Biasutto, Peter Adamson, Michae

Prevalence of interferon type I signature in CD14 monocytes of patients with Sjogren's syndrome and association with disease activity and BAFF gene expression

干燥综合征患者 CD14 单核细胞中 I 型干扰素特征的流行情况及其与疾病活动性和 BAFF 基因表达的关系

Zana Brkic, Naomi I Maria, Cornelia G van Helden-Meeuwsen, Joop P van de Merwe, Paul L van Daele, Virgil A Dalm, Manon E Wildenberg, Wouter Beumer, Hemmo A Drexhage, Marjan A Versnel