Research Topic

New Approaches to Study Ciliopathies and Centrioles-Related Genetic Disorders

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About this Research Topic

Cilia, including the primary cilium, the kinocilium or cilia in multi-ciliated cell, are organelles used by the cell to interact with their environment. Many genetic disorders have been associated to cilia mal-functioning or assembly, named ciliopathies. The focus of this Research Topic is to promote cilia ...

Cilia, including the primary cilium, the kinocilium or cilia in multi-ciliated cell, are organelles used by the cell to interact with their environment. Many genetic disorders have been associated to cilia mal-functioning or assembly, named ciliopathies. The focus of this Research Topic is to promote cilia genetic studies leading to a better understanding of these genetic disorders and other centrioles related diseases like cancer.

Over the last quarter of century, biologist have shown that cilia, formed by the axoneme and the basal bodies, are crucial for proper development. Clear examples are connections between the sonic hedgehog pathway and the planar cell polarity pathway with cilia associated signaling and positioning, respectively. By using the primary cilium as an antenna, cells can monitor the paracellular space and react to extracellular changes activating or inhibiting signaling pathways. An ongoing effort is being applied to determine the molecular pathways and signaling associated with cilia and their implication in genetics disorders.

In parallel, an effort is also being made to uncover physical features associated with cilia proper functioning, including number, subcellular position and size. These are crucial in multi-ciliated cells, like those in the brain ventricles or the trachea, where cilia generate a directional flow. But also in mono-ciliated cells like those in the node where they also generate a directional flow during development. In this sense, a computational effort is required to accurately study these cilia physical features.

In this Research Topic, we welcome submissions in any of the following topics:
(1) Reviews or Minireviews on cilia and cilia related structures in human diseases.
(2) New findings in genes and/or molecular connections with cilia.
(3) Structural studies dissecting the cellular behavior of the cilia.
(4) New genetic models to study cilia and related structures.
(5) New algorithms and software packages for measuring physical properties of the cilia and cilia related structures.
(6) Any others not explicitly mentioned but relevant to cilia.


Keywords: Cilia, Centrioles, Basal bodies, Ciliopathies


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