The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
Open accessAbstract
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.
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Cites
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Regulation of Cilium Length and Intraflagellar Transport
(2013) · International Review of Cell and Molecular Biology · doi:10.1016/b978-0-12-407697-6.00003-9 · Cited by 63
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The primary cilia are associated with the axon initial segment in neurons
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Metadata
- Authors
- Zaghloul, N. A., & Katsanis, N.
- Venue
- Journal of Clinical Investigation
- Published
- 2009-03-02
- Volume
- 119
- Issue
- 3
- Pages
- 428-437
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1994975332
- Cited by
- 364
- References
- 14
- FWCI
- 22.81
- Type
- journal article
- Language
- en
- Open access
- bronze
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