Gene Variants and Phenotypic Diversity: Insights into CFTR, SLC Transporters and Disease
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 December 2025 | Viewed by 16
Special Issue Editor
Special Issue Information
Dear Colleagues,
I am delighted to announce a new Special Issue of the International Journal of Molecular Sciences, entitled “Gene Variants and Phenotypic Diversity: Insights into CFTR, SLC Transporters and Disease”.
The scope of this issue will include research on mutations’ impact on pulmonary and brain diseases, such as cystic fibrosis and Alzheimer’s disease, or on cancers, with various approaches to research (genetics, biochemistry, molecular and cell biology, molecular biophysics, molecular medicine) as a focus. The impact of mutations on splicing (exon skipping, intron retention and other aberrant splicing) may be a point of interest for ABC and SLC transporters. We are particularly interested in papers that answer longstanding questions, open new avenues of research, report unexpected findings, or change the way we think about these diseases.
Original reports and reviews are welcome. However, since IJMS is a journal of molecular science, purely clinical studies will not suitable for our journal.
Dr. Veronique Ladeveze
Guest Editor
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Keywords
- mutations
- polymorphisms
- alternative splicing
- exon skipping
- intron retention
- CFTR (ABCC7)
- cystic fibrosis
- SLC16a3
- Alzheimer’s disease
- pulmonary and brain cancer
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