The Bardet-Biedl and Alstrom Syndromes (eds) Genetics of renal disease, pp.361-398, 2004. ,
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?, Nature Reviews Genetics, vol.157, issue.12, pp.928-940, 2005. ,
DOI : 10.1038/nrg1727
From cilia to cyst, Nature Genetics, vol.34, issue.4, pp.355-356, 2003. ,
DOI : 10.1038/ng0803-355
The Ciliopathies: An Emerging Class of Human Genetic Disorders, Annual Review of Genomics and Human Genetics, vol.7, issue.1, pp.125-148, 2006. ,
DOI : 10.1146/annurev.genom.7.080505.115610
When cilia go bad: cilia defects and ciliopathies, Nature Reviews Molecular Cell Biology, vol.125, issue.11, pp.880-893, 2007. ,
DOI : 10.1038/nrm2278
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease, Cell, vol.137, issue.1, pp.32-45, 2009. ,
DOI : 10.1016/j.cell.2009.03.023
Chapter Two Intraflagellar Transport (IFT), Curr Top Dev Biol, vol.85, pp.23-61, 2008. ,
DOI : 10.1016/S0070-2153(08)00802-8
Intraflagellar transport, Nature Reviews Molecular Cell Biology, vol.418, issue.11, pp.813-825, 2002. ,
DOI : 10.1038/nrm952
URL : http://dx.doi.org/10.1016/s0960-9822(02)00703-0
Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.52, issue.4, pp.263-280, 2009. ,
DOI : 10.1002/ajmg.c.30227
URL : https://hal.archives-ouvertes.fr/pasteur-00604821
Chapter 10 The Primary Cilium Coordinates Signaling Pathways in Cell Cycle Control and Migration During Development and Tissue Repair, Curr Top Dev Biol, vol.85, pp.261-301, 2008. ,
DOI : 10.1016/S0070-2153(08)00810-7
Chapter 7 Ciliary Function and Wnt Signal Modulation, Curr Top Dev Biol, vol.85, pp.175-195, 2008. ,
DOI : 10.1016/S0070-2153(08)00807-7
Chapter 11 Cilia Involvement in Patterning and Maintenance of the Skeleton, Curr Top Dev Biol, vol.85, pp.303-332, 2008. ,
DOI : 10.1016/S0070-2153(08)00811-9
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells, Nature Genetics, vol.33, issue.2, pp.129-137, 2003. ,
DOI : 10.1038/ng1076
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia, Proceedings of the National Academy of Sciences, vol.105, issue.11, pp.4242-4246, 2008. ,
DOI : 10.1073/pnas.0711027105
Polycystic Kidney Disease, New England Journal of Medicine, vol.350, issue.2, pp.151-164, 2004. ,
DOI : 10.1056/NEJMra022161
URL : https://hal.archives-ouvertes.fr/hal-00562802
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16, Cell, vol.77, pp.881-894, 1994. ,
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein, Science, vol.272, issue.5266, pp.1339-1342, 1996. ,
DOI : 10.1126/science.272.5266.1339
Autosomal dominant polycystic kidney disease: the last 3 years, Kidney International, vol.76, issue.2, pp.149-168, 2009. ,
DOI : 10.1038/ki.2009.128
PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription???Factor Domains and Parallel Beta-Helix 1 Repeats, The American Journal of Human Genetics, vol.70, issue.5, pp.1305-1317, 2002. ,
DOI : 10.1086/340448
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein, Nature Genetics, vol.30, issue.3, pp.259-269, 2002. ,
DOI : 10.1038/ng833
A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans, Nature, vol.78, issue.6751, pp.386-389, 1999. ,
DOI : 10.1038/43913
Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice, Science, vol.264, issue.5163, pp.1329-1333, 1994. ,
DOI : 10.1126/science.8191288
737, Are Required for Assembly of Cilia and Flagella, The Journal of Cell Biology, vol.150, issue.3, pp.709-718, 2000. ,
DOI : 10.1083/jcb.129.1.169
Polaris, a Protein Involved in Left-Right Axis Patterning, Localizes to Basal Bodies and Cilia, Molecular Biology of the Cell, vol.12, issue.3, pp.589-599, 2001. ,
DOI : 10.1091/mbc.12.3.589
The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination, Development, vol.127, pp.2347-2355, 2000. ,
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia, Human Molecular Genetics, vol.12, issue.20, pp.2703-2710, 2003. ,
DOI : 10.1093/hmg/ddg274
Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function, Journal of the American Society of Nephrology, vol.19, issue.3, pp.455-468, 2008. ,
DOI : 10.1681/ASN.2007070770
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2391052
Fibrocystin/Polyductin, Found in the Same Protein Complex with Polycystin-2, Regulates Calcium Responses in Kidney Epithelia, Molecular and Cellular Biology, vol.27, issue.8, pp.3241-3252, 2007. ,
DOI : 10.1128/MCB.00072-07
A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation, Kidney International, vol.72, issue.3, pp.328-336, 2007. ,
DOI : 10.1038/sj.ki.5002294
Polycystins and Primary Cilia: Primers for Cell Cycle Progression, Annual Review of Physiology, vol.71, issue.1, pp.83-113, 2009. ,
DOI : 10.1146/annurev.physiol.70.113006.100621
Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel, Proceedings of the National Academy of Sciences, vol.98, issue.3, pp.1182-1187, 2001. ,
DOI : 10.1073/pnas.98.3.1182
Coassembly of polycystin-1 and -2 produces unique cationpermeable currents, Nature, vol.408, pp.990-994, 2000. ,
Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease, Current Biology, vol.12, issue.11, pp.378-380, 2002. ,
DOI : 10.1016/S0960-9822(02)00877-1
PKD1 interacts with PKD2 through a probable coiled-coil domain, Nature Genetics, vol.58, issue.2, pp.179-183, 1997. ,
DOI : 10.1016/0168-9525(96)99997-7
Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2, Proceedings of the National Academy of Sciences, vol.94, issue.13, pp.6965-6970, 1997. ,
DOI : 10.1073/pnas.94.13.6965
The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia, Journal of the American Society of Nephrology, vol.13, issue.10, pp.2508-2516, 2002. ,
DOI : 10.1097/01.ASN.0000029587.47950.25
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy, J Clin Invest, vol.120, pp.791-802, 2010. ,
Nephronophthisis: Disease Mechanisms of a Ciliopathy, Journal of the American Society of Nephrology, vol.20, issue.1, pp.23-35, 2009. ,
DOI : 10.1681/ASN.2008050456
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11), Journal of Medical Genetics, vol.46, issue.10, pp.663-670, 2009. ,
DOI : 10.1136/jmg.2009.066613
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination, Nature Genetics, vol.34, issue.4, pp.413-420, 2003. ,
DOI : 10.1038/ng1217
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis, Nature Genetics, vol.426, issue.8, pp.1018-1024, 2007. ,
DOI : 10.1038/ng2072
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation, The American Journal of Human Genetics, vol.86, issue.1, pp.93-97, 2010. ,
DOI : 10.1016/j.ajhg.2009.12.007
Clinical and molecular features of Joubert syndrome and related disorders, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.119, issue.4, pp.326-340, 2009. ,
DOI : 10.1002/ajmg.c.30229
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes, Nature Genetics, vol.90, issue.7, pp.619-625, 2010. ,
DOI : 10.1038/ng.594
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy, Journal of Clinical Investigation, vol.119, issue.3, pp.428-437, 2009. ,
DOI : 10.1172/JCI37041DS1
Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis, Science, vol.329, issue.5997, pp.1337-1340, 2010. ,
DOI : 10.1126/science.1191184
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509789
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome, Nature Genetics, vol.25, issue.4, pp.443-448, 2008. ,
DOI : 10.1038/ng.97
URL : https://hal.archives-ouvertes.fr/pasteur-00604849
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy, Nature Genetics, vol.58, issue.10, pp.840-850, 2010. ,
DOI : 10.1271/bbb.69.261
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome, The American Journal of Human Genetics, vol.80, issue.1, pp.1-11, 2007. ,
DOI : 10.1086/510256
URL : https://hal.archives-ouvertes.fr/hal-00166251
Basal body dysfunction is a likely cause of pleiotropic Bardet???Biedl syndrome, Nature, vol.425, issue.6958, pp.628-633, 2003. ,
DOI : 10.1038/nature02030
Dissection of epistasis in oligogenic Bardet???Biedl syndrome, Nature, vol.97, issue.7074, pp.326-330, 2006. ,
DOI : 10.1038/nature04370
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome, Nature Genetics, vol.31, issue.9, pp.989-993, 2004. ,
DOI : 10.1093/bioinformatics/14.9.755
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression, Nature Genetics, vol.36, issue.5, pp.462-470, 2004. ,
DOI : 10.1038/ng1352
Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene, Cell, vol.117, issue.4, pp.541-552, 2004. ,
DOI : 10.1016/S0092-8674(04)00450-7
A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation, Developmental Cell, vol.15, issue.6, pp.854-865, 2008. ,
DOI : 10.1016/j.devcel.2008.11.001
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis, Cell, vol.129, issue.6, pp.1201-1213, 2007. ,
DOI : 10.1016/j.cell.2007.03.053
URL : https://hal.archives-ouvertes.fr/hal-00183618
Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria , and differential diagnosis, Arch Pathol Lab Med, vol.130, pp.1236-1238, 2006. ,
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome, The American Journal of Human Genetics, vol.81, issue.1, pp.170-179, 2007. ,
DOI : 10.1086/519494
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome, Nature Genetics, vol.114, issue.7, pp.875-881, 2007. ,
DOI : 10.1073/pnas.0505328102
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome, Nature Genetics, vol.18, issue.2, pp.155-157, 2006. ,
DOI : 10.1038/ng1714
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat, Nature Genetics, vol.294, issue.2, pp.191-196, 2006. ,
DOI : 10.1038/ng1713
Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle, The American Journal of Human Genetics, vol.82, issue.6, pp.1361-1367, 2008. ,
DOI : 10.1016/j.ajhg.2008.05.004
Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality,??Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia, The American Journal of Human Genetics, vol.82, issue.4, pp.959-970, 2008. ,
DOI : 10.1016/j.ajhg.2008.02.017
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation, Human Molecular Genetics, vol.16, issue.2, pp.173-186, 2007. ,
DOI : 10.1093/hmg/ddl459
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4, Nature Genetics, vol.316, issue.6, pp.674-681, 2006. ,
DOI : 10.1083/jcb.101.6.2085
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling, Human Molecular Genetics, vol.18, issue.23, pp.4565-4575, 2009. ,
DOI : 10.1093/hmg/ddp422
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus, Human Molecular Genetics, vol.12, issue.14, pp.1651-1659, 2003. ,
DOI : 10.1093/hmg/ddg188
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome, The American Journal of Human Genetics, vol.72, issue.5, pp.1187-1199, 2003. ,
DOI : 10.1086/375178
URL : https://hal.archives-ouvertes.fr/hal-00174595
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder, Science, vol.293, issue.5538, pp.2256-2259, 2001. ,
DOI : 10.1126/science.1063525
Evidence of Oligogenic Inheritance in Nephronophthisis, Journal of the American Society of Nephrology, vol.18, issue.10, pp.2789-2795, 2007. ,
DOI : 10.1681/ASN.2007020243
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome, The American Journal of Human Genetics, vol.76, issue.3, pp.493-504, 2005. ,
DOI : 10.1086/428679
gene encoding a centrosomal protein cause Meckel-Gruber syndrome, Human Mutation, vol.33, issue.1, pp.45-52, 2008. ,
DOI : 10.1002/humu.20614
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome, Nature Genetics, vol.6, issue.6, pp.623-625, 2006. ,
DOI : 10.1093/hmg/ddi264
Chapter 13 Ciliary Dysfunction in Developmental Abnormalities and Diseases, Curr Top Dev Biol, vol.85, pp.371-427, 2008. ,
DOI : 10.1016/S0070-2153(08)00813-2
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis, Nature Genetics, vol.43, issue.2, pp.175-180, 2010. ,
DOI : 10.1038/ng.519
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies, Nature Genetics, vol.41, issue.6, pp.739-745, 2009. ,
DOI : 10.1016/j.visres.2007.08.005
Bending the MDCK Cell Primary Cilium Increases Intracellular Calcium, Journal of Membrane Biology, vol.184, issue.1, pp.71-79, 2001. ,
DOI : 10.1007/s00232-001-0075-4
Two Populations of Node Monocilia Initiate Left-Right Asymmetry in the Mouse, Cell, vol.114, issue.1, pp.61-73, 2003. ,
DOI : 10.1016/S0092-8674(03)00511-7
Randomization of Left???Right Asymmetry due to Loss of Nodal Cilia Generating Leftward Flow of Extraembryonic Fluid in Mice Lacking KIF3B Motor Protein, Cell, vol.95, issue.6, pp.829-837, 1998. ,
DOI : 10.1016/S0092-8674(00)81705-5
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways, Nature Genetics, vol.140, issue.5, pp.537-543, 2005. ,
DOI : 10.1091/mbc.E02-04-0195
TRPP2 and TRPV4 form a polymodal sensory channel complex, The Journal of Cell Biology, vol.1772, issue.3, pp.437-447, 2008. ,
DOI : 10.1152/ajprenal.00462.2006
Specific association of the gene product of PKD2 with the TRPC1 channel, Proceedings of the National Academy of Sciences, vol.96, issue.7, pp.3934-3939, 1999. ,
DOI : 10.1073/pnas.96.7.3934
The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1, Human Molecular Genetics, vol.18, issue.7, pp.1238-1251, 2009. ,
DOI : 10.1093/hmg/ddp024
Transepithelial pressure pulses induce nucleotide release in polarized MDCK cells, AJP: Renal Physiology, vol.288, issue.1, pp.133-141, 2005. ,
DOI : 10.1152/ajprenal.00238.2004
A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1, Nature Medicine, vol.77, issue.12, pp.1490-1495, 2007. ,
DOI : 10.1186/gb-2003-4-5-p3
Disruption of Intraflagellar Transport in Adult Mice Leads to Obesity and Slow-Onset Cystic Kidney Disease, Current Biology, vol.17, issue.18, pp.1586-1594, 2007. ,
DOI : 10.1016/j.cub.2007.08.034
Distribution and developmentally regulated expression of murine polycystin, Pediatr Nephrol Am J Physiol, vol.87, issue.272, pp.451-459, 1997. ,
Cystic kidney diseases and planar cell polarity signaling, Clinical Genetics, vol.439, issue.7073, pp.107-117, 2009. ,
DOI : 10.1111/j.1399-0004.2008.01148.x
THE WNT SIGNALING PATHWAY IN DEVELOPMENT AND DISEASE, Annual Review of Cell and Developmental Biology, vol.20, issue.1, pp.781-810, 2004. ,
DOI : 10.1146/annurev.cellbio.20.010403.113126
Planar Cell Polarity and the Kidney, Journal of the American Society of Nephrology, vol.20, issue.10, pp.2104-2111, 2009. ,
DOI : 10.1681/ASN.2008111173
Polycystic kidney disease: Cell division without a c(l)ue?, Kidney International, vol.70, issue.5, pp.854-864, 2006. ,
DOI : 10.1038/sj.ki.5001534
URL : http://doi.org/10.1038/sj.ki.5001534
Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of ??-catenin in mice, Genes & Development, vol.22, issue.17, pp.2308-2341, 2008. ,
DOI : 10.1101/gad.1686208
A Second Canon, Developmental Cell, vol.5, issue.3, pp.367-377, 2003. ,
DOI : 10.1016/S1534-5807(03)00266-1
URL : http://doi.org/10.1016/s1534-5807(03)00266-1
Abnormal Nodal Flow Precedes Situs Inversus in iv and inv mice, Molecular Cell, vol.4, issue.4, pp.459-468, 1999. ,
DOI : 10.1016/S1097-2765(00)80197-5
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response, Nature Genetics, vol.423, issue.11, pp.1350-1360, 2007. ,
DOI : 10.1038/ng.2007.12
URL : https://hal.archives-ouvertes.fr/pasteur-00604846
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates, Nature Genetics, vol.121, issue.10, pp.1135-1140, 2005. ,
DOI : 10.1038/77068
Kif3a constrains ??-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms, Nature Cell Biology, vol.102, issue.1, pp.70-76, 2008. ,
DOI : 10.1038/ncb1670
Conditional Mutation of Pkd2 Causes Cystogenesis and Upregulates ??-Catenin, Journal of the American Society of Nephrology, vol.20, issue.12, pp.2556-2569, 2009. ,
DOI : 10.1681/ASN.2009030271
Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the ??-catenin gene, Oncogene, vol.20, issue.42, pp.5972-5981, 2001. ,
DOI : 10.1038/sj.onc.1204825
Primary Cilia Are Not Required for Normal Canonical Wnt Signaling in the Mouse Embryo, PLoS ONE, vol.6, issue.8, p.6839, 2009. ,
DOI : 10.1371/journal.pone.0006839.g004
Impaired Wnt?????-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy, Nature Medicine, vol.3, issue.9, pp.1046-1054, 2009. ,
DOI : 10.1038/nm.2010
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895985
Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia, Human Molecular Genetics, vol.17, issue.11, pp.1578-1590, 2008. ,
DOI : 10.1093/hmg/ddn045
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150596
Defective planar cell polarity in polycystic kidney disease, Nature Genetics, vol.37, issue.1, pp.21-23, 2006. ,
DOI : 10.1038/ng1701
Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease, Nature Genetics, vol.6, issue.8, pp.1010-1015, 2008. ,
DOI : 10.1038/sj.ki.5001534
Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis, Nature Genetics, vol.282, issue.7, pp.793-799, 2009. ,
DOI : 10.1016/j.ydbio.2007.11.016
Conserved Patterns of Cell Movements during Vertebrate Gastrulation, Current Biology, vol.15, issue.6, pp.213-228, 2005. ,
DOI : 10.1016/j.cub.2005.03.016
Loss of Oriented Cell Division Does not Initiate Cyst Formation, Journal of the American Society of Nephrology, vol.21, issue.2, pp.295-302, 2010. ,
DOI : 10.1681/ASN.2009060603
The Extracellular Domain of Smoothened Regulates Ciliary Localization and Is Required for High-Level Hh Signaling, Current Biology, vol.19, issue.12, pp.1034-1039, 2009. ,
DOI : 10.1016/j.cub.2009.04.053
Vertebrate Smoothened functions at the primary cilium, Nature, vol.280, issue.7061, pp.1018-1021, 2005. ,
DOI : 10.1038/nature04117
Gli2 and Gli3 Localize to Cilia and Require the Intraflagellar Transport Protein Polaris for Processing and Function, PLoS Genetics, vol.12, issue.4, p.53, 2005. ,
DOI : 1059-1524(2001)012[0589:PAPIIL]2.0.CO;2
Hedgehog signalling in the mouse requires intraflagellar transport proteins, Nature, vol.426, issue.6962, pp.83-87, 2003. ,
DOI : 10.1038/nature02061
Broad-Minded Links Cell Cycle-Related Kinase to Cilia Assembly and Hedgehog Signal Transduction, Developmental Cell, vol.18, issue.2, pp.237-247, 2010. ,
DOI : 10.1016/j.devcel.2009.12.014
URL : http://doi.org/10.1016/j.devcel.2009.12.014
Patched1 Regulates Hedgehog Signaling at the Primary Cilium, Science, vol.317, issue.5836, pp.372-376, 2007. ,
DOI : 10.1126/science.1139740
Hedgehog: functions and mechanisms, Genes & Development, vol.22, issue.18, pp.2454-2472, 2008. ,
DOI : 10.1101/gad.1693608
URL : http://genesdev.cshlp.org/cgi/content/short/22/18/2454
Chapter 5 Modeling Ciliopathies, Curr Top Dev Biol, vol.84, pp.249-310, 2008. ,
DOI : 10.1016/S0070-2153(08)00605-4
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome, The American Journal of Human Genetics, vol.83, issue.2, pp.170-179, 2008. ,
DOI : 10.1016/j.ajhg.2008.06.023
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney, Development, vol.131, issue.16, pp.4085-4093, 2004. ,
DOI : 10.1242/dev.01240
The Graded Response to Sonic Hedgehog Depends on Cilia Architecture, Developmental Cell, vol.12, issue.5, pp.767-778, 2007. ,
DOI : 10.1016/j.devcel.2007.03.004
Hedgehog signaling, epithelial-tomesenchymal transition and miRNA (review), Int J Mol Med, vol.22, pp.271-275, 2008. ,
DOI : 10.3892/ijmm_00000019
Building it up and taking it down: The regulation of vertebrate ciliogenesis, Developmental Dynamics, vol.18, issue.8, pp.1972-1981, 2008. ,
DOI : 10.1002/dvdy.21540
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish, Development, vol.129, issue.24, pp.5839-5846, 2002. ,
DOI : 10.1242/dev.00173
Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice, Proceedings of the National Academy of Sciences, vol.97, issue.1, pp.217-221, 2000. ,
DOI : 10.1073/pnas.97.1.217
NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis, Journal of the American Society of Nephrology, vol.19, issue.3, pp.587-592, 2008. ,
DOI : 10.1681/ASN.2007040490
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2391043
The intraflagellar transport component IFT88/polaris is a centrosomal protein regulating G1-S transition in non-ciliated cells, Journal of Cell Science, vol.120, issue.4, pp.628-637, 2007. ,
DOI : 10.1242/jcs.03366
Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus, Journal of Clinical Investigation, vol.114, issue.10, pp.1433-1443, 2004. ,
DOI : 10.1172/JCI21753
Polycystin-1, STAT6, and P100 Function in a Pathway that Transduces Ciliary Mechanosensation and Is Activated in Polycystic Kidney Disease, Developmental Cell, vol.10, issue.1, pp.57-69, 2006. ,
DOI : 10.1016/j.devcel.2005.12.005
PKD1 Induces p21waf1 and Regulation of the Cell Cycle via Direct Activation of the JAK-STAT Signaling Pathway in a Process Requiring PKD2, Cell, vol.109, issue.2, pp.157-168, 2002. ,
DOI : 10.1016/S0092-8674(02)00716-X
Depletion of PKD1 by an antisense oligodeoxynucleotide induces premature G1/S-phase transition, European Journal of Human Genetics, vol.12, issue.6, pp.433-440, 2004. ,
DOI : 10.1038/sj.ejhg.5201136
The Role of the Mammalian Target Of Rapamycin (mTOR) in Renal Disease, Journal of the American Society of Nephrology, vol.20, issue.12, pp.2493-2502, 2009. ,
DOI : 10.1681/ASN.2008111186
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease, Proceedings of the National Academy of Sciences, vol.103, issue.14, pp.5466-5471, 2006. ,
DOI : 10.1073/pnas.0509694103
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome, Proceedings of the National Academy of Sciences, vol.107, issue.23, pp.10602-10607, 2010. ,
DOI : 10.1073/pnas.1000219107
URL : https://hal.archives-ouvertes.fr/pasteur-00604855
Rapamycin Markedly Slows Disease Progression in a Rat Model of Polycystic Kidney Disease, Journal of the American Society of Nephrology, vol.16, issue.1, pp.46-51, 2005. ,
DOI : 10.1681/ASN.2004080660
Restoration of renal function in zebrafish models of ciliopathies, Pediatric Nephrology, vol.5, issue.11, pp.2095-2099, 2008. ,
DOI : 10.1007/s00467-008-0898-7
Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD), Nephrology Dialysis Transplantation, vol.21, issue.3, pp.598-604, 2006. ,
DOI : 10.1093/ndt/gfi181
Prospects for mTOR Inhibitor Use in Patients with Polycystic Kidney Disease and Hamartomatous Diseases, Clinical Journal of the American Society of Nephrology, vol.5, issue.7, pp.1312-1329, 2010. ,
DOI : 10.2215/CJN.01360210
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine, Nature, vol.10, issue.7121, pp.949-952, 2006. ,
DOI : 10.1038/nature05348
Src Inhibition Ameliorates Polycystic Kidney Disease, Journal of the American Society of Nephrology, vol.19, issue.7, pp.1331-1341, 2008. ,
DOI : 10.1681/ASN.2007060665
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2440293