Oligonucleotide correction of a rare CFTR intron 12 splicing variant from a cystic fibrosis patient.

IF 4.4 3区医学 Q1 RESPIRATORY SYSTEM

ERJ Open Research Pub Date : 2026-10-26 eCollection Date: 2026-09-01 DOI:10.1183/23120541.00561-2026

Aiguo Ni, Yan L Dang, Susan E Boyles, John T Minges, Deborah M Cholon, Marianne S Muhlebach, Carla M P Ribeiro, Martina Gentzsch, Silvia M Kreda

引用次数: 0

Abstract

SSOs corrected rare CFTR splicing mutations unresponsive to modulators, restoring functional CFTR in patient airway epithelial cells - even under epithelial inflammation - highlighting SSOs as a promising precision therapy for cystic fibrosis https://bit.ly/3U156kG.

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囊性纤维化患者罕见的CFTR内含子12剪接变异的寡核苷酸校正。

SSOs纠正了罕见的对调节剂无反应的CFTR剪接突变，恢复了患者气道上皮细胞的CFTR功能-即使在上皮炎症下-突出SSOs作为囊性纤维化的有前途的精确治疗https://bit.ly/3U156kG。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ERJ Open Research Medicine-Pulmonary and Respiratory Medicine

CiteScore

6.20

自引率

4.30%

发文量

273

审稿时长

8 weeks

期刊介绍： ERJ Open Research is a fully open access original research journal, published online by the European Respiratory Society. The journal aims to publish high-quality work in all fields of respiratory science and medicine, covering basic science, clinical translational science and clinical medicine. The journal was created to help fulfil the ERS objective to disseminate scientific and educational material to its members and to the medical community, but also to provide researchers with an affordable open access specialty journal in which to publish their work.