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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

<i>Chlamydomonas IFT</i> 88 and Its Mouse Homologue, Polycystic Kidney Disease Gene <i>Tg</i> 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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 760 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 627 · see citing works

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 606 · see citing works

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 571 · see citing works

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 · see citing works

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 513 · see citing works

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 505 · see citing works

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 499 · see citing works

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 · see citing works

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 · see citing works

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 485 · see citing works

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 476 · see citing works

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 · see citing works

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 453 · see citing works

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 &amp; Development · doi:10.1101/gad.1966210 · Cited by 435 · see citing works

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 433 · see citing works

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 · see citing works

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 · see citing works

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 405 · see citing works

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 403 · see citing works

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 385 · see citing works

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 374 · see citing works

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 · see citing works

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 · see citing works

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 365 · see citing works

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 365 · see citing works

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 360 · see citing works

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 359 · see citing works

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 &amp; Cellular Proteomics · doi:10.1074/mcp.m700054-mcp200 · Cited by 359 · see citing works

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 · see citing works

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 · see citing works

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 336 · see citing works

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 336 · see citing works

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 · see citing works

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 315 · see citing works

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 310 · see citing works

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

Lü, Q., Insinna, C., Ott, C. M., Stauffer, J. K., Pintado, P. A., Rahajeng, J., Baxa, U., Walia, V., Cuenca, A. A., Hwang, Y.-S., et al. (2015) · Nature Cell Biology · doi:10.1038/ncb3109 · Cited by 299 · see citing works

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 · see citing works

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 289 · see citing works

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 284 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 270 · see citing works

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 261 · see citing works

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 · see citing works

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 248 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 239 · see citing works

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 235 · see citing works

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 231 · see citing works

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 230 · see citing works

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 229 · see citing works

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 222 · see citing works

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 · see citing works

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 218 · see citing works

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 · see citing works

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

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

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CCDC41 is required for ciliary vesicle docking to the mother centriole

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Evidence of Oligogenic Inheritance in Nephronophthisis

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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

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Olfactory Cilia: Linking Sensory Cilia Function and Human Disease

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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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TAp73 is a central transcriptional regulator of airway multiciliogenesisPreprint

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

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

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

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RFX2 is broadly required for ciliogenesis during vertebrate development

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

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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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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

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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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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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Intraflagellar transport complex structure and cargo interactions

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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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Distinguishing the four genetic causes of jouberts syndrome–related disorders

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

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Regulation of centriolar satellite integrity and its physiology

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Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

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The exocyst localizes to the primary cilium in MDCK cells

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

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

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

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Cilia in vertebrate left–right patterning

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

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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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