Journal article
Establishing a connection between cilia and Bardet-Biedl Syndrome
Trends in molecular medicine, Vol.10(3), pp.106-109
03/2004
DOI: 10.1016/j.molmed.2004.01.003
PMID: 15106604
Abstract
Bardet-Biedl Syndrome (BBS) is a gentic disorder with primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BBS protein function. Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.
Details
- Title: Subtitle
- Establishing a connection between cilia and Bardet-Biedl Syndrome
- Creators
- Kirk Mykytyn - Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, 43210, USAVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- Trends in molecular medicine, Vol.10(3), pp.106-109
- Publisher
- England
- DOI
- 10.1016/j.molmed.2004.01.003
- PMID
- 15106604
- ISSN
- 1471-4914
- eISSN
- 1471-499X
- Language
- English
- Date published
- 03/2004
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065397002771
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