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Genesis 2021 Feb 01;591-2:e23410. doi: 10.1002/dvg.23410.
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Aquatic models of human ciliary diseases.

Corkins ME , Krneta-Stankic V , Kloc M , Miller RK .

Cilia are microtubule-based structures that either transmit information into the cell or move fluid outside of the cell. There are many human diseases that arise from malfunctioning cilia. Although mammalian models provide vital insights into the underlying pathology of these diseases, aquatic organisms such as Xenopus and zebrafish provide valuable tools to help screen and dissect out the underlying causes of these diseases. In this review we focus on recent studies that identify or describe different types of human ciliopathies and outline how aquatic organisms have aided our understanding of these diseases.

PubMed ID: 33496382
PMC ID: PMC8593908
Article link: Genesis
Grant support: [+]

Species referenced: Xenopus laevis
Genes referenced: ccdc65 cdh23 cfap161 cfap299 dand5 foxj1 galnt11 ift88 nek2 nodal nodal1 pfkp pitx2 pkd1 pkd2 rock2 shroom3 tgfb2 tuba4b

Disease Ontology terms: Joubert syndrome [+]

Article Images: [+] show captions
References [+] :
Ajima, Wnt signalling escapes to cilia. 2011, Pubmed