Molecular Genetics of Cystic Kidney Disease
A Special Issue of Cells (ISSN 2073-4409) belonging to the section "Cell and Gene Therapy".
Deadline for manuscript submissions: 31 October 2026 | Viewed by 172
Editors
Interests: cystic kidney disease; tubulopathies; ciliopathies; cilia; renal stone disease; end-stage renal failure
Special Issues, Collections and Topics in MDPI journals
Interests: cystic kidney disease; cilia
Special Issue Information
Dear Colleagues,
Inherited cystic kidney diseases, including ADPKD and ARPKD, remain a significant challenge, driven by genetic mutations and dysregulated signaling pathways. Hence, there is a need to characterize the molecular mechanisms underlying cystogenesis, encompassing ciliary protein function, ciliary signaling, and emerging molecularly targeted strategies, to provide deeper insight into disease pathogenesis. This necessitates the use of relevant cell and animal models that recapitulate the complexities of renal ciliopathies in vivo. The potential of novel genetic screening techniques and targeted interventions to modify disease progression in preclinical models remains to be determined.
This Special Issue will examine ciliary protein function and associated signaling pathways; methods for genetic screening and functional validation of cystic disease genes ex vivo; the effects of specific mutations on ciliary structure, mechanosensation, and downstream signaling cascades; three-dimensional cell culture systems including kidney organoids for modeling cystogenesis; in vitro platforms for dissecting the interplay between the cell cycle, fluid secretion, and tubular morphogenesis; and in vivo models to investigate the efficacy of molecularly targeted therapies in attenuating cyst growth and preserving renal architecture.
Prof. Dr. John Sayer
Guest Editor
Dr. Juliana Arcila Galvis
Guest Editor Assistant
Manuscript Submission Information
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Keywords
- cystic kidney disease
- polycystic kidney disease
- cilia
- PKD1
- PKD2
- autosomal dominant
- renal epithelium
- animal models
- disease mechanisms
- organoids
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