The ciliopathies: an emerging class of human genetic disorders.

@article{Badano2006TheCA,
  title={The ciliopathies: an emerging class of human genetic disorders.},
  author={Jos{\'e} L. Badano and Norimasa Mitsuma and Philip Beales and Nicholas Katsanis},
  journal={Annual review of genomics and human genetics},
  year={2006},
  volume={7},
  pages={
          125-48
        }
}
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal… 
Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.
TLDR
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TLDR
The common clinical phenotypes associated with ciliopathies are reviewed and Online Mendelian Inheritance in Man is interrogated to compile a comprehensive list of putative disorders in which ciliary dysfunction may play a role.
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TLDR
The ciliopathy phenotypes are thought to be a consequence of abnormal regulation of the diverse collection of receptors, channels, and other signaling machinery that are specifically enriched in the cilium, including the polycystin proteins, which cause polycystic kidney disease.
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TLDR
A set of ciliopathic features (“ciliopathies”) are described that form the core of many syndromes caused by ciliary dysfunction, including phenotypes that relate to defects in signal transduction, the sensation and generation of fluid flow, and the formation of specialized cilia.
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TLDR
The aim of this review is to evaluate the recent advances in the function of primary cilia in different tissues, underlining similarities and differences.
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TLDR
A shift in the focus of research by using tools and models that highlight the similarity between the genetics of mice, zebrafish and human cells is starting to form an interesting mechanistic picture of how cilia have a role in the developmental pathologies and human diseases.
Educational paper
  • C. Bergmann
  • Medicine, Biology
    European Journal of Pediatrics
  • 2011
TLDR
Characterization of ciliopathies and the decisive role of primary cilia in signal transduction and cell division provides novel insights into tumorigenesis, mental retardation, and other common causes of morbidity and mortality, including diabetes mellitus and obesity.
Zebrafish as models to study ciliopathies of the eye and kidney
TLDR
The advantages of the zebrafish as a vertebrate model for human ciliopathies are reviewed, with a focus on ciliaopathies affecting the eye and the kidney.
Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies
TLDR
The primary cilium has been identified as a key structure necessary to regulate and maintain cellular and tissue homeostasis and thus its study is providing significant information to understand the pathogenesis of the different phenotypes that characterize these human conditions.
Ciliopathies: Primary Cilia and Signaling Pathways in Mammalian Development
TLDR
The greater knowledge of genetics and the recognized role of cilium in morphogenetic signaling pathways, especially in neurogenesis, bring Bronowski’s phrase “All science is the search for unity in hidden likenesses” to life.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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