The nonmotile ciliopathies

被引：146

作者：

Tobin, Jonathan L. ^{[2
]}

Beales, Philip L. ^{[1
]}

机构：

[1] UCL Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

[2] Canc Res United Kingdom London Res Inst, London, England

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 06期

基金：

英国医学研究理事会;

关键词：

ciliopathy; Bardet-Biedl; cilia; nonmotile; genetic disease; BARDET-BIEDL-SYNDROME; POLYCYSTIC KIDNEY-DISEASE; PLANAR CELL POLARITY; VAN-CREVELD-SYNDROME; LEFT-RIGHT ASYMMETRY; INTRAFLAGELLAR TRANSPORT PROTEINS; PRIMARY CILIA FORMATION; BASAL BODY DYSFUNCTION; MECKEL-GRUBER-SYNDROME; CAUSE JOUBERT-SYNDROME;

D O I：

10.1097/GIM.0b013e3181a02882

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 in signaling pathways and development, and the unusual genetics of these diseases. We also discuss the therapeutic potential for these diseases and finally, discuss important future work that will extend our understanding of this fascinating organelle and its associated pathologies. Genet Med 2009:11(6):386-402.

引用

页码：386 / 402

页数：17

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