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
收藏
页码：107 / 117
页数：11
相关论文
共 114 条
[1]   The retinal ciliopathies [J].
Adams, N. A. ;
Awadein, Ahmed ;
Toma, Hassanain S. .
OPHTHALMIC GENETICS, 2007, 28 (03) :113-125
[2]   THE GENETIC-CONTROL OF TISSUE POLARITY IN DROSOPHILA [J].
ADLER, PN .
BIOESSAYS, 1992, 14 (11) :735-741
[3]   Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease [J].
Arikan, C ;
Ozgenc, F ;
Akman, SA ;
Kilic, M ;
Tokat, Y ;
Yagci, RV ;
Aydogdu, S .
PEDIATRIC TRANSPLANTATION, 2004, 8 (06) :558-560
[4]   Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome [J].
Arts, Heleen H. ;
Doherty, Dan ;
van Beersum, Sylvia E. C. ;
Parisi, Melissa A. ;
Letteboer, Stef J. F. ;
Gorden, Nicholas T. ;
Peters, Theo A. ;
Maerker, Tina ;
Voesenek, Krysta ;
Kartono, Aileen ;
Ozyurek, Hamit ;
Farin, Federico M. ;
Kroes, Hester Y. ;
Wolfrum, Uwe ;
Brunner, Han G. ;
Cremers, Frans P. M. ;
Glass, Ian A. ;
Knoers, Nine V. A. M. ;
Roepman, Ronald .
NATURE GENETICS, 2007, 39 (07) :882-888
[5]   Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis [J].
Attanasio, Massimo ;
Uhlenhaut, N. Henriette ;
Sousa, Vitor H. ;
O'Toole, John F. ;
Otto, Edgar ;
Anlag, Katrin ;
Klugmann, Claudia ;
Treier, Anna-Corina ;
Helou, Juliana ;
Sayer, John A. ;
Seelow, Dominik ;
Nurnberg, Gudrun ;
Becker, Christian ;
Chudley, Albert E. ;
Nurnberg, Peter ;
Hildebrandt, Friedhelm ;
Treier, Mathias .
NATURE GENETICS, 2007, 39 (08) :1018-1024
[6]   Renal cystic disease: New insights for the clinician [J].
Avner, Ellis D. ;
Sweeney, William E., Jr. .
PEDIATRIC CLINICS OF NORTH AMERICA, 2006, 53 (05) :889-+
[7]  
Axelrod JD, 2001, GENE DEV, V15, P1182
[8]   Differential recruitment of Dishevelled provides signaling specificity in the planar cell polarity and Wingless signaling pathways [J].
Axelrod, JD ;
Miller, JR ;
Shulman, JM ;
Moon, RT ;
Perrimon, N .
GENES & DEVELOPMENT, 1998, 12 (16) :2610-2622
[9]   The orientation of cell divisions determines the shape of Drosophila organs [J].
Baena-López, LA ;
Baonza, A ;
García-Bellido, A .
CURRENT BIOLOGY, 2005, 15 (18) :1640-1644
[10]   Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning [J].
Bastock, R ;
Strutt, H ;
Strutt, D .
DEVELOPMENT, 2003, 130 (13) :3007-3014
12345678910