Identified five variants in CFTR gene that alter RNA splicing by minigene assay

Our study employed a minigene system, which offers great flexibility for assessing aberrant splicing patterns when patient mRNA samples are not accessible, to investigate the effects of exonic variants on pre-mRNA splicing. Our experimental outcomes highlight the importance of analyzing exonic variations at the mRNA level.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-03-20
DOI
https://doi.org/10.3389/fgene.2025.1543623
Citations
1
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
1.52

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article

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

Zhi Wang, Fengjiao Pan, Bingying Zhang, Leping Shao et al.
1 citations
Frontiers in Genetics
Cystic Fibrosis Research Advances
1.52
article

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

Zhi Wang, Fengjiao Pan, Bingying Zhang, Leping Shao, Xuyan Liu, Ran Zhang, Yan Zhang, Ning Xu, Yiyin Zhang
article en
1 citations

Abstract

Our study employed a minigene system, which offers great flexibility for assessing aberrant splicing patterns when patient mRNA samples are not accessible, to investigate the effects of exonic variants on pre-mRNA splicing. Our experimental outcomes highlight the importance of analyzing exonic variations at the mRNA level.

Frontiers in GeneticsVol. 16
Qingdao University (CN), Weifang Medical University (CN), Peking University (CN), Affiliated Hospital of Qingdao University (CN), Qingdao Municipal Hospital (CN), Qingdao Eighth People's Hospital (CN)
Innovative Research Group Project of the National Natural Science Foundation of China
Openalex Percentile: Top 21%
Cystic Fibrosis Research Advances
1.52
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Identified five variants in CFTR gene that alter RNA splicing by minigene assay — Zhi Wang, Fengjiao Pan, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS