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Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9.

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

Author information

1
College of Life and Environmental Sciences; University of Exeter; Exeter, UK.

Abstract

The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.

KEYWORDS:

Hedgehog; Joubert syndrome; Meckel-Gruber syndrome; Wnt; brain; cilia; ciliopathy; kidney; nephronophthisis; signalling; skeleton

PMID:
24322779
PMCID:
PMC4049900
DOI:
10.4161/org.27375
[Indexed for MEDLINE]
Free PMC Article

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