publication . Article . 2005

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

Philip L Beales;
Restricted
  • Published: 30 Apr 2005 Journal: Current Opinion in Genetics & Development, volume 15, pages 315-323 (issn: 0959-437X, Copyright policy)
  • Publisher: Elsevier BV
Abstract
Progress in understanding the cause of the once obscure condition Bardet-Biedl syndrome (BBS) has been rapid since 2003. That BBS is now known to be a disorder of cilia and basal body function has been facilitated by the recent discovery of the novel genes BBS3, 5, 7 and 8 (eight BBS genes in total) and confirmed by the generation of genetic model systems in mice, Chlamydomonas, Caenorhabditis elegans and Drosophila melanogaster. These discoveries have been aided significantly by several elegant comparative genomic exercises, highlighting the utility of such approaches. The high level of species conservation and genetic heterogeneity indicates the fundamental im...
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalities
free text keywords: Developmental Biology, Genetics, Basal body, Bardet–Biedl syndrome, medicine.disease, medicine, Cilium, Genetic model, Genetic heterogeneity, Drosophila melanogaster, biology.organism_classification, biology, Caenorhabditis elegans, Population, education.field_of_study, education
Related Organizations
Powered by OpenAIRE Open Research Graph
Any information missing or wrong?Report an Issue