The DOI matches its Crossref record; 62 of the 62 references it cites were found in a registry or an index.
Making sense of cilia in disease: The human ciliopathies
Open accessAbstract
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar functions. The most obvious example of the latter is motility: driving movement of the organism or particle flow across the epithelial surface in fixed structures. In vertebrates, such motile cilia are evident in the respiratory epithelia, ependyma, and oviducts. For over a century, non‐motile cilia have been observed on the surface of most vertebrate cells but until recently their function has eluded us. Gathering evidence now points to critical roles for the mono‐cilium in sensing the extracellular environment, and perturbation of this function gives rise to a predictable panoply of clinical problems. We review the common clinical phenotypes associated with ciliopathies and interrogate Online Mendelian Inheritance in Man (OMIM) to compile a comprehensive list of putative disorders in which ciliary dysfunction may play a role. © 2009 Wiley‐Liss, Inc.
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Cites
The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle
Singla, V., & Reiter, J. F. (2006) · Science · doi:10.1126/science.1124534 · Cited by 1,189
The Ciliopathies: An Emerging Class of Human Genetic Disorders
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Self-citationNew criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
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Self-citationThe Graded Response to Sonic Hedgehog Depends on Cilia Architecture
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Self-citationThe Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome
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A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney
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Chapter Two Intraflagellar Transport (IFT)
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
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Cited by
The primary cilium: a signalling centre during vertebrate development
Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824
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Reiter, J. F., & Leroux, M. R. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.60 · Cited by 1,588
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.08.004 · Cited by 278
Complex interactions between genes controlling trafficking in primary cilia
Ocbina, P. J. R., Eggenschwiler, J. T., Moskowitz, I., & Anderson, K. V. (2011) · Nature Genetics · doi:10.1038/ng.832 · Cited by 208
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Metadata
- Authors
- Baker, K., & Beales, P. L.
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2009-10-28
- Volume
- 151C
- Issue
- 4
- Pages
- 281-295
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W2010384718
- Cited by
- 349
- References
- 62
- FWCI
- 17.11
- Type
- journal article
- Language
- en
- Open access
- bronze
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