The nonmotile ciliopathies.

doi:10.1097/GIM.0b013e3181a02882

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Article

The nonmotile ciliopathies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2009

Tobin Jonathan L, Beales Philip L

Abstract excerpt

Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field, including new animal models, the role of ciliopathy proteins...

Topics

Animals
Bardet-Biedl Syndrome
Biological Transport
Cilia
Humans
Microtubule-Associated Proteins
Models, Biological
Mutation
Proteins
Signal Transduction
Wnt Proteins

Source

Open in PubMed

Identifiers

PMID: 19421068
DOI: 10.1097/GIM.0b013e3181a02882

Provenance

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