The DOI matches its Crossref record.
Cilia‐related diseases
Open accessAbstract
There are at least eight categories of cilia in the human body and malfunctioning of any one or several of them will have different consequences for the patient. A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile‐cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus. When the so‐called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and visceral organs (‘a 50% risk of situs inversus’). Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells—this is the cause of retinitis pigmentosa. Ciliary malfunctions due to genetic errors tend to be systemic and life‐long, whereas acquired diseases are local and may be temporary only. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
When cilia go bad: cilia defects and ciliopathies
Fliegauf, M., Benzing, T., & Omran, H. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2278 · Cited by 1,257
Overview of Structure and Function of Mammalian Cilia
Satir, P., & Christensen, S. T. (2007) · Annual Review of Physiology · doi:10.1146/annurev.physiol.69.040705.141236 · Cited by 1,142
Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., & Dollfus, H. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812518106 · Cited by 178
Structural organization of the C1a-e-c supercomplex within the ciliary central apparatus
Fu, G., Zhao, L., Dymek, E., Hou, Y., Song, K., Phan, N., Shang, Z., Smith, E. F., Witman, G. B., & Nicastro, D. (2019) · Journal of Cell Biology · doi:10.1083/jcb.201906006 · Cited by 48
Traumatic Brain Injury-Induced Ependymal Ciliary Loss Decreases Cerebral Spinal Fluid Flow
Xiong, G., Elkind, J. A., Kundu, S., Smith, C. J., Antunes, M. B., Tamashiro, E., Kofonow, J. M., Mitala, C. M., Cole, J., Stein, S. C., et al. (2014) · Journal of Neurotrauma · doi:10.1089/neu.2013.3110 · Cited by 43
Metadata
- Authors
- Afzelius, B.
- Venue
- The Journal of Pathology
- Publisher
- Wiley
- Published
- 2004-10-19
- Volume
- 204
- Issue
- 4
- Pages
- 470-477
- ISSN
- 0022-3417 (ISSN-L)
- 1096-9896
- OpenAlex
- W1979485887
- Cited by
- 378
- References
- 0
- FWCI
- 9.77
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
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).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
