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Literature DB >> 24322779

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

Amy R Barker¹, Rhys Thomas¹, Helen R Dawe¹.

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.

Entities: Chemical

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

Mesh：

Year: 2013 PMID： 24322779 PMCID： PMC4049900 DOI： 10.4161/org.27375

Source DB: PubMed Journal: Organogenesis ISSN： 1547-6278 Impact factor: 2.500

179 in total

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28 in total

Review 1. An approach to cystic kidney diseases: the clinician's view.

Authors: Christine E Kurschat; Roman-Ulrich Müller; Mareike Franke; David Maintz; Bernhard Schermer; Thomas Benzing
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Journal: Cell Rep Date: 2017-07-11 Impact factor: 9.423

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Journal: Curr Opin Pediatr Date: 2015-04 Impact factor: 2.856

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Journal: FASEB J Date: 2018-08-22 Impact factor: 5.191

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Authors: Rivka A Rachel; Erin A Yamamoto; Mrinal K Dewanjee; Helen L May-Simera; Yuri V Sergeev; Alice N Hackett; Katherine Pohida; Jeeva Munasinghe; Norimoto Gotoh; Bill Wickstead; Robert N Fariss; Lijin Dong; Tiansen Li; Anand Swaroop
Journal: Hum Mol Genet Date: 2015-04-09 Impact factor: 6.150