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… 
View on PubMed
codebiology.org
1,099 Citations
Highly Influential Citations
33
Background Citations
487
Methods Citations
8
Results Citations
4

1,099 Citations

Citation Type

Citation Type

Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.
TLDR
Ciliopathy has rapidly expanded, involving multidisciplinary efforts to define the complex genetics and functional phenotypes of cilia, and ciliary ultrastructure and function, genetics, clinical characteristics, and overlapping features of these diverse diseases are described.
Making sense of cilia in disease: The human ciliopathies
  • K. Baker, P. Beales
  • Biology, Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2009
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.
Renal Cilia Structure, Function, and Physiology
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.
Genes and Mechanisms in Human Ciliopathies
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.
The primary cilium in different tissues—lessons from patients and animal models
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.
Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview.
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.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 156 REFERENCES
Functional Genomics of the Cilium, a Sensory Organelle
TLDR
These findings help define a ciliary transcriptome and suggest that DYF-13, an evolutionarily conserved protein, is a novel core IFT component required for cilia function.
An incredible decade for the primary cilium: a look at a once-forgotten organelle.
TLDR
Although great advances are made in demonstrating the importance of cilia over the past decade, the physiological role that this organelle plays in most tissues remains elusive and research focused on addressing this issue will be of critical importance for a further understanding of how ciliary dysfunction can lead to such severe disease and developmental pathologies.
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
TLDR
The data indicate that BBS proteins have a role in the microtubule organization of mammalian ciliated cells and that anosmia might be a useful determinant of other pleiotropic disorders with a suspected ciliary involvement.
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
TLDR
Data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects.
Polycystic kidney disease: the cilium as a common pathway in cystogenesis
TLDR
Understanding of the importance of the primary cilium in renal cyst formation may guide potential therapy for cystic kidney diseases by targeting the structural and functional integrity of the cilia.
Proteomic analysis of a eukaryotic cilium
Cilia and flagella are widespread cell organelles that have been highly conserved throughout evolution and play important roles in motility, sensory perception, and the life cycles of eukaryotes…
Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
TLDR
BBS5, a novel gene for Bardet-Biedl syndrome is identified and it is shown that this novel protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella.
Analysis of xbx genes in C. elegans
TLDR
A model where DAF-19, the RFX-type transcription factor binding to the X-box, is responsible for the development of a ciliary module in C. elegans, which includes genes for cilium structure, transport machinery, receptors and other factors is proposed.
Decoding Cilia Function Defining Specialized Genes Required for Compartmentalized Cilia Biogenesis
TLDR
This work characterized a novel family of proteins (OSEGs: outer segment) essential for ciliogenesis and shows that osegs encode components of a specialized transport pathway unique to the cilia compartment and are related to prototypical intracellular transport proteins.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
TLDR
It is shown that mice with mutations in genes involved in Bardet-Biedl syndrome share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles, and that Vangl2 localizes to the basal body and axoneme of ciliated cells, suggesting that cilia are intrinsically involved in PCP processes.
...
1
2
3
4
5
...