Genes and molecular pathways underpinning ciliopathies

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336

The mechanisms of Hedgehog signalling and its roles in development and disease

Briscoe, J., & Thérond, P. P. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3598 · Cited by 1,751

Vertebrate Smoothened functions at the primary cilium

Corbit, K. C., Aanstad, P., Singla, V., Norman, A. R., Stainier, D. Y. R., & Reiter, J. F. (2005) · Nature · doi:10.1038/nature04117 · Cited by 1,481

Patched1 Regulates Hedgehog Signaling at the Primary Cilium

Rohatgi, R., Milenkovic, L., & Scott, M. P. (2007) · Science · doi:10.1126/science.1139740 · Cited by 1,426

A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peränen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., et al. (2007) · Cell · doi:10.1016/j.cell.2007.03.053 · Cited by 1,384

Chlamydomonas IFT 88 and Its Mouse Homologue, Polycystic Kidney Disease Gene Tg 737, Are Required for Assembly of Cilia and Flagella

Pazour, G. J., Dickert, B. L., Vucica, Y., Seeley, E. S., Rosenbaum, J. L., Witman, G. B., & Cole, D. G. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.151.3.709 · Cited by 1,147

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144

Proteomic analysis of a eukaryotic cilium

Pazour, G. J., Agrin, N. S., Leszyk, J., & Witman, G. B. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200504008 · Cited by 1,028

A motility in the eukaryotic flagellum unrelated to flagellar beating.

Kozminski, K. G., Johnson, K. A., Forscher, P., & Rosenbaum, J. L. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.12.5519 · Cited by 1,007

Gli2 and Gli3 Localize to Cilia and Require the Intraflagellar Transport Protein Polaris for Processing and Function

Haycraft, C. J., Banizs, B., Aydin-Son, Y., Zhang, Q., Michaud, E. J., & Yoder, B. K. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010053 · Cited by 902

Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May‐Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., et al. (2004) · Cell · doi:10.1016/s0092-8674(04)00450-7 · Cited by 764

CENTRIOLES AND THE FORMATION OF RUDIMENTARY CILIA BY FIBROBLASTS AND SMOOTH MUSCLE CELLS

Sorokin, S. (1962) · The Journal of Cell Biology · doi:10.1083/jcb.15.2.363 · Cited by 732

Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific Genes

Chen, S., Wang, Q., Nie, Z., Sun, H., Lennon, G. G., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., & Zack, D. J. (1997) · Neuron · doi:10.1016/s0896-6273(00)80394-3 · Cited by 712

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

García-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C., Josifova, D. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.891 · Cited by 660

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001) · Science · doi:10.1126/science.1063525 · Cited by 655

Primary Cilia and Mammalian Hedgehog Signaling

Bangs, F., & Anderson, K. V. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028175 · Cited by 642

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Sang, L., Miller, J. J., Corbit, K. C., Giles, R. H., Brauer, M. J., Otto, E. A., Baye, L. M., Wen, X., Scales, S. J., Kwong, M., et al. (2011) · Cell · doi:10.1016/j.cell.2011.04.019 · Cited by 638

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Sayer, J. A., Otto, E. A., O’Toole, J. F., Nürnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V., et al. (2006) · Nature Genetics · doi:10.1038/ng1786 · Cited by 582

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

Gupta, G. D., Coyaud, É., Gonçalves, J., Mojarad, B. A., Liu, Y., Wu, Q., Gheiratmand, L., Comartin, D., Tkach, J. M., Cheung, S. W. T., et al. (2015) · Cell · doi:10.1016/j.cell.2015.10.065 · Cited by 538

A Septin Diffusion Barrier at the Base of the Primary Cilium Maintains Ciliary Membrane Protein Distribution

Hu, Q., Milenković, L., Jin, H., Scott, M. P., Nachury, M. V., Spiliotis, E. T., & Nelson, W. J. (2010) · Science · doi:10.1126/science.1191054 · Cited by 532

The Intraflagellar Transport Protein IFT20 Is Associated with the Golgi Complex and Is Required for Cilia Assembly

Follit, J. A., Tuft, R. A., Fogarty, K. E., & Pazour, G. J. (2006) · Molecular Biology of the Cell · doi:10.1091/mbc.e06-02-0133 · Cited by 524

Decoding Cilia Function

Avidor‐Reiss, T., Maer, A. M., Koundakjian, E. J., Polyanovsky, A. D., Keil, T. A., Subramaniam, S., & Zuker, C. S. (2004) · Cell · doi:10.1016/s0092-8674(04)00412-x · Cited by 509

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

Reiter, J. F., Blacque, O. E., & Leroux, M. R. (2012) · EMBO Reports · doi:10.1038/embor.2012.73 · Cited by 506

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., et al. (2007) · Nature Genetics · doi:10.1038/ng2039 · Cited by 495

Coordination of Rab8 and Rab11 in primary ciliogenesis

Knödler, A., Feng, S., Zhang, J., Zhang, X., Das, A. K., Peränen, J., & Guo, W. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002401107 · Cited by 493

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

Mukhopadhyay, S., Wen, X., Ratti, N., Loktev, A., Rangell, L., Scales, S. J., & Jackson, P. K. (2013) · Cell · doi:10.1016/j.cell.2012.12.026 · Cited by 486

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., et al. (2011) · The Journal of Cell Biology · doi:10.1083/jcb.201012116 · Cited by 481

Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., & Mykytyn, K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711027105 · Cited by 474

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

Li, Y., Klena, N., Gabriel, G. C., Liu, X., Kim, A. J., Lemke, K., Chen, Y., Chatterjee, B., Devine, W. A., Damerla, R. R., et al. (2015) · Nature · doi:10.1038/nature14269 · Cited by 446

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

Mukhopadhyay, S., Wen, X., Chih, B., Nelson, C. D., Lane, W. S., Scales, S. J., & Jackson, P. K. (2010) · Genes & Development · doi:10.1101/gad.1966210 · Cited by 435

Tracing the origins of centrioles, cilia, and flagella

Carvalho-Santos, Z., Azimzadeh, J., Pereira‐Leal, J. B., & Bettencourt‐Dias, M. (2011) · The Journal of Cell Biology · doi:10.1083/jcb.201011152 · Cited by 428

Centriole distal appendages promote membrane docking, leading to cilia initiationPreprint

Tanos, B. E., Yang, H.-J., Soni, R. K., Wang, W., Macaluso, F., Asara, J. M., & Tsou, M.-F. B. (2013) · Genes & Development · doi:10.1101/gad.207043.112 · Cited by 417

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al‐Gazali, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1805 · Cited by 416

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

Craige, B., Tsao, C.-C., Diener, D. R., Hou, Y., Lechtreck, K. F., Rosenbaum, J. L., & Witman, G. B. (2010) · The Journal of Cell Biology · doi:10.1083/jcb.201006105 · Cited by 407

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Dı́az-Font, A., Rix, S., Alfadhel, M., Lewis, R. A., Eyaid, W., Banin, E., et al. (2008) · Nature Genetics · doi:10.1038/ng.97 · Cited by 406

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.028 · Cited by 390

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

Chih, B., Liu, P. J., Chinn, Y., Chalouni, C. M., Kömüves, L. G., Hass, P. E., Sandoval, W. N., & Peterson, A. S. (2011) · Nature Cell Biology · doi:10.1038/ncb2410 · Cited by 384

Bbs2 -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

Nishimura, D. Y., Fath, M. A., Mullins, R. F., Searby, C. C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405496101 · Cited by 377

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Kulaga, H. M., Leitch, C. C., Eichers, E. R., Badano, J. L., Lesemann, A., Hoskins, B. E., Lupski, J. R., Beales, P. L., Reed, R. R., & Katsanis, N. (2004) · Nature Genetics · doi:10.1038/ng1418 · Cited by 376

Switching on cilia: transcriptional networks regulating ciliogenesis

Choksi, S. P., Lauter, G., Swoboda, P., & Roy, S. (2014) · Development · doi:10.1242/dev.074666 · Cited by 376

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

Omran, H., Kobayashi, D., Olbrich, H., Tsukahara, T., Loges, N. T., Hagiwara, H., Zhang, Q., Leblond, G., O'Toole, E. T., Hara, C., et al. (2008) · Nature · doi:10.1038/nature07471 · Cited by 371

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.756 · Cited by 370

The proteome of the mouse photoreceptor sensory cilium complex

Liu, Q., Tan, G., Levenkova, N., Li, T., Pugh, E. N., Rux, J. J., Speicher, D. W., & Pierce, E. A. (2007) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m700054-mcp200 · Cited by 359

The RFX-Type Transcription Factor DAF-19 Regulates Sensory Neuron Cilium Formation in C. elegans

Swoboda, P., Adler, H. T., & Thomas, J. H. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)80436-0 · Cited by 349

Making sense of cilia in disease: The human ciliopathies

Baker, K., & Beales, P. L. (2009) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30231 · Cited by 348

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Beales, P. L., Bland, E., Tobin, J. L., Bacchelli, C., Tüysüz, B., Hill, J. E., Rix, S., Pearson, C. G., Kai, M., Hartley, J., et al. (2007) · Nature Genetics · doi:10.1038/ng2038 · Cited by 345

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Ferrante, M. I., Feather, S. A., Bulfone, A., Wright, V. J., Ghiani, M., Selicorni, A., Gammaro, L., Scolari, F., Woolf, A. S., Odent, S., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318802 · Cited by 337

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

Seo, S., Guo, D., Bugge, K., Morgan, D. A., Rahmouni, K., & Sheffield, V. C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp031 · Cited by 329

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse

Finetti, F., Paccani, S. R., Riparbelli, M. G., Giacomello, E., Perinetti, G., Pazour, G. J., Rosenbaum, J. L., & Baldari, C. T. (2009) · Nature Cell Biology · doi:10.1038/ncb1977 · Cited by 322

Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81

Bhogaraju, S., Cajanek, L., Fort, C., Blisnick, T., Weber, K., Taschner, M., Mizuno, N., Lamla, S., Bastin, P., Nigg, E. A., et al. (2013) · Science · doi:10.1126/science.1240985 · Cited by 317

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

Schmidt, K. N., Kuhns, S., Neuner, A., Hub, B., Zentgraf, H., & Pereira, G. (2012) · The Journal of Cell Biology · doi:10.1083/jcb.201202126 · Cited by 298

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Wallmeier, J., Al-Mutairi, D. A., Chen, C., Loges, N. T., Pennekamp, P., Menchen, T., Ma, L., Shamseldin, H. E., Olbrich, H., Dougherty, G. W., et al. (2014) · Nature Genetics · doi:10.1038/ng.2961 · Cited by 294

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Dryja, T. P., Adams, S. M., Grimsby, J., McGee, T. L., Hong, D.-H., Li, T., Andréasson, S., & Berson, E. L. (2001) · The American Journal of Human Genetics · doi:10.1086/320113 · Cited by 287

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Baala, L., Audollent, S., Martinovic, J., Ozilou, C., Babron, M., Sivanandamoorthy, S., Saunier, S., Salomon, R., Gonzalès, M., Rattenberry, E., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519494 · Cited by 283

DYX1C1 is required for axonemal dynein assembly and ciliary motility

UK10K, Tarkar, A., Loges, N. T., Slagle, C. E., Francis, R. J. B., Dougherty, G. W., Tamayo, J. V., Shook, B. A., Cantino, M. E., Schwartz, D., et al. (2013) · Nature Genetics · doi:10.1038/ng.2707 · Cited by 280

Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation

Lu, Q., Insinna, C., Ott, C., Stauffer, J., Pintado, P. A., Rahajeng, J., Baxa, U., Walia, V., Cuenca, A., Hwang, Y.-S., et al. (2015) · Nature Cell Biology · doi:10.1038/ncb3109 · Cited by 279

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.08.004 · Cited by 279

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Mitchison, H. M., Schmidts, M., Loges, N. T., Freshour, J. R., Dritsoula, A., Hirst, R. A., O’Callaghan, C., Blau, H., Dabbagh, M. A., Olbrich, H., et al. (2012) · Nature Genetics · doi:10.1038/ng.1106 · Cited by 275

Proteomic Analysis of Mammalian Primary Cilia

Ishikawa, H., Thompson, J., Yates, J. R., & Marshall, W. F. (2012) · Current Biology · doi:10.1016/j.cub.2012.01.031 · Cited by 275

Functional Genomics of the Cilium, a Sensory Organelle

Blacque, O. E., Perens, E. A., Boroevich, K. A., Inglis, P. N., Li, C., Warner, A., Khattra, J. S., Holt, R. A., Ou, G., Mah, A. K., et al. (2005) · Current Biology · doi:10.1016/j.cub.2005.04.059 · Cited by 274

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Boon, M., Wallmeier, J., Ma, L., Loges, N. T., Jaspers, M., Olbrich, H., Dougherty, G. W., Raidt, J., Werner, C., Amirav, I., et al. (2014) · Nature Communications · doi:10.1038/ncomms5418 · Cited by 267

IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

Eguether, T., San Agustin, J. T., Keady, B. T., Jonassen, J. A., Liang, Y., Francis, R., Tobita, K., Johnson, C. A., Abdelhamed, Z. A., Lo, C. W., et al. (2014) · Developmental Cell · doi:10.1016/j.devcel.2014.09.011 · Cited by 260

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Putoux, A., Thomas, S., Coene, K. L. M., Davis, E. E., Alanay, Y., Oğur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., et al. (2011) · Nature Genetics · doi:10.1038/ng.826 · Cited by 258

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

García-Gonzalo, F. R., & Reiter, J. F. (2012) · The Journal of Cell Biology · doi:10.1083/jcb.201111146 · Cited by 252

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter, J., Bizet, A. A., Schmidts, M., Porath, J. D., Braun, D. A., Gee, H. Y., McInerney-Leo, A. M., Krug, P., Filhol-Blin, E., Davis, E. E., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.09.012 · Cited by 248

The Evolution of Eukaryotic Cilia and Flagella as Motile and Sensory Organelles

Mitchell, D. R. (2008) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-74021-8_11 · Cited by 246

Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4

Mazelova, J., Astuto‐Gribble, L., Inoue, H., Tam, B. M., Schonteich, E., Prekeris, R., Moritz, O. L., Randazzo, P. A., & Deretic, D. (2009) · The EMBO Journal · doi:10.1038/emboj.2008.267 · Cited by 244

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Wheway, G., Schmidts, M., Mans, D. A., Szymańska, K., Nguyen, T.-M. T., Racher, H., Phelps, I. G., Toedt, G., Kennedy, J. E., Wunderlich, K. A., et al. (2015) · Nature Cell Biology · doi:10.1038/ncb3201 · Cited by 243

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Katsanis, N., Ansley, S., Badano, J., Eichers, E., Ra, L., Hoskins, B., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski (2002) · UCL Discovery (University College London) · Cited by 240

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications · doi:10.1038/ncomms11491 · Cited by 240

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Perrault, I., Delphin, N., Hanein, S., Gerber, S., Dufier, J., Roche, O., Defoort‐Dhellemmes, S., Dollfus, H., Fazzi, E., Münnich, A., et al. (2007) · Human Mutation · doi:10.1002/humu.9485 · Cited by 239

An ARL3–UNC119–RP2 GTPase cycle targets myristoylated NPHP3 to the primary ciliumPreprint

Wright, K. J., Baye, L. M., Olivier-Mason, A., Mukhopadhyay, S., Sang, L., Kwong, M., Wang, W., Pretorius, P. R., Sheffield, V. C., Sengupta, P., et al. (2011) · Genes & Development · doi:10.1101/gad.173443.111 · Cited by 231

miR-34/449 miRNAs are required for motile ciliogenesis by repressing CP110

Song, R., Walentek, P., Sponer, N., Klimke, A., Lee, J. S., Dixon, G., Harland, R., Wan, Y., Lishko, P., Lize, M., et al. (2014) · Nature · doi:10.1038/nature13413 · Cited by 228

Role of f-box factor foxj1 in differentiation of ciliated airway epithelial cells

You, Y., Huang, T., Richer, E. J., Schmidt, J.-E. H., Zabner, J., Borok, Z., & Brody, S. L. (2004) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00170.2003 · Cited by 225

Sensory reception is an attribute of both primary cilia and motile cilia

Bloodgood, R. A. (2010) · Journal of Cell Science · doi:10.1242/jcs.066308 · Cited by 221

Ins and outs of GPCR signaling in primary cilia

Schou, K. B., Pedersen, L. B., & Christensen, S. T. (2015) · The EMBO Reports · doi:10.15252/embr.201540530 · Cited by 221

Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins

Domire, J. S., Green, J. A., Lee, K. G., Johnson, A. D., Askwith, C. C., & Mykytyn, K. (2011) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-010-0603-4 · Cited by 217

Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia

Loktev, A. V., & Jackson, P. K. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.11.011 · Cited by 212

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

Seo, S., Zhang, Q., Bugge, K., Breslow, D. K., Searby, C. C., Nachury, M. V., & Sheffield, V. C. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002358 · Cited by 211

Piecing together a ciliome

Inglis, P. N., Boroevich, K. A., & Leroux, M. R. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.07.006 · Cited by 210

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

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The Transcription Factor RFX3 Directs Nodal Cilium Development and Left-Right Asymmetry Specification

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Hedgehog signaling promotes basal progenitor expansion and the growth and folding of the neocortex

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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

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The Exocyst Protein Sec10 Is Necessary for Primary Ciliogenesis and Cystogenesis In Vitro

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An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

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The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality

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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

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New Tetrahymena basal body protein components identify basal body domain structure

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Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

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Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1

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Drosophila Regulatory factor X is necessary for ciliated sensory neuron differentiation

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CCDC41 is required for ciliary vesicle docking to the mother centriole

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C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

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The role of primary cilia in the development and disease of the retina

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The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

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Evolution of modular intraflagellar transport from a coatomer-like progenitor

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

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How do cilia organize signalling cascades?

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

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Evidence of Oligogenic Inheritance in Nephronophthisis

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Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

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Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

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RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

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TAp73 is a central transcriptional regulator of airway multiciliogenesisPreprint

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Olfactory Cilia: Linking Sensory Cilia Function and Human Disease

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Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

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Chemically inducible diffusion trap at cilia reveals molecular sieve–like barrier

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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

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The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

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A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

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RFX2 is broadly required for ciliogenesis during vertebrate development

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Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

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Regulation of centriolar satellite integrity and its physiology

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Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

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Mcidas and GemC1/Lynkeas are key regulators for the generation of multiciliated ependymal cells in the adult neurogenic niche

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Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia‐mediated diminished response to hedgehog ligands

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Distinguishing the four genetic causes of jouberts syndrome–related disorders

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The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

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Intraflagellar transport complex structure and cargo interactions

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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

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The mouse homeobox gene Noto regulates node morphogenesis, notochordal ciliogenesis, and left–right patterning

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Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

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The Rfx4 Transcription Factor Modulates Shh Signaling by Regional Control of Ciliogenesis

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The exocyst localizes to the primary cilium in MDCK cells

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Regulation of Cilium Length and Intraflagellar Transport by the RCK-Kinases ICK and MOK in Renal Epithelial Cells

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Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

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Cilia in vertebrate left–right patterning

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Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

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Nephrocystin-4 controls ciliary trafficking of membrane and large soluble proteins at the transition zone

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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

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CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

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Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

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Cilia and coordination of signaling networks during heart development

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The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formationPreprint

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A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

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Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development

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ER Stress Is Involved in T17M Rhodopsin-Induced Retinal Degeneration

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Chapter 12 Olfactory Cilia: Our Direct Neuronal Connection to the External World

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