Cystic kidney diseases and planar cell polarity signaling

被引：42

作者：

Bacallao, R. L. ^{[1
,3
]}

McNeill, H. ^{[2
,4
]}

机构：

[1] Indiana Univ Sch Med, Div Nephrol, Indianapolis, IN USA

[2] Mt Sinai Hosp, SLRI, Toronto, ON M5G 1X5, Canada

[3] Indiana Univ, Sch Med, Div Nephrol, Indianapolis, IN USA

[4] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

来源：

CLINICAL GENETICS | 2009年 / 75卷 / 02期

关键词：

development kidney; nephronophthisis; planar polarity; polycystic kidney disease; spindle orientation; NEURAL-TUBE DEFECTS; CONVERGENT EXTENSION MOVEMENTS; SENIOR-LOKEN-SYNDROME; KINASE-I-EPSILON; ASYMMETRIC LOCALIZATION; JOUBERT-SYNDROME; TISSUE POLARITY; DROSOPHILA EYE; RETINITIS-PIGMENTOSA; STRABISMUS/VAN-GOGH;

D O I：

10.1111/j.1399-0004.2008.01148.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Bacallao RL, McNeill H. Cystic kidney diseases and planar cell polarity signaling.Clin Genet 2009: 75: 107-117. (C) John Wiley & Sons A/S, 2009 Renal cystic diseases are a major clinical concern as they are the most common genetic cause of end-stage renal disease. While many of the genes causing cystic disease have been identified in recent years, knowing the molecular nature of the mutations has not clarified the mechanisms underlying cyst formation. Recent research in model organisms has suggested that cyst formation may be because of defective planar cell polarity (PCP) and/or ciliary defects. In this review, we first outline the clinical features of renal cystic diseases and then discuss current research linking our understanding of cystic kidney disease to PCP and cilia.

引用

页码：107 / 117

页数：11

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