The DOI matches its Crossref record; 97 of the 97 references it cites were found in a registry or an index.
Ciliopathies and the Kidney: A Review
Open accessAbstract
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these mutations manifest as renal ciliopathies, characterized by kidney dysfunction resulting from aberrant cilia or ciliary functions. This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review. Renal ciliopathies are characterized by the presence of kidney cysts that develop due to uncontrolled epithelial cell proliferation, growth, and polarity, downstream of dysregulated ciliary-dependent signaling. Due to cystic-associated kidney injury and systemic inflammation, cases result in kidney failure requiring dialysis and transplantation. Of the handful of pharmacologic treatments available, none are curative. It is important to determine the molecular mechanisms that underlie the involvement of the primary cilium in cyst initiation, expansion, and progression for the development of novel and efficacious treatments. This review updates research progress in defining key genes and molecules central to ciliogenesis and renal ciliopathies.
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Cites
Kidney organoids from human iPS cells contain multiple lineages and model human nephrogenesis
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Genes and molecular pathways underpinning ciliopathies
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When cilia go bad: cilia defects and ciliopathies
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The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle
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Cellular signalling by primary cilia in development, organ function and disease
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“Disruptions in these signaling pathways are associated with ciliopathies.(24)”
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Cited by
Chrystal, P. W., Lambacher, N. J., Doucette, L. P., Bellingham, J., Schiff, E. R., Noel, N. C. L., Li, C., Tsiropoulou, S., Casey, G. A., Zhai, Y., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33820-w · Cited by 31
Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62347 · Cited by 20
Metadata
- Authors
- McConnachie, D. J., Stow, J. L., & Mallett, A. J.
- Venue
- American Journal of Kidney Diseases
- Publisher
- Elsevier BV
- Published
- 2021-03
- Volume
- 77
- Issue
- 3
- Pages
- 410-419
- ISSN
- 0272-6386 (ISSN-L)
- OpenAlex
- W3091983506
- Cited by
- 257
- References
- 97
- FWCI
- 15.96
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- McConnachie, D. J., Stow, J. L., & Mallett, A. J. (2021). Ciliopathies and the Kidney: A Review. American Journal of Kidney Diseases. https://doi.org/10.1053/j.ajkd.2020.08.012
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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