Primary Cilia and Mammalian Hedgehog Signaling

Mutations affecting segment number and polarity in Drosophila

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Hedgehog signaling in animal development: paradigms and principlesPreprint

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Vertebrate Smoothened functions at the primary cilium

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Patched1 Regulates Hedgehog Signaling at the Primary Cilium

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

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Evidence for an Expansion-Based Temporal Shh Gradient in Specifying Vertebrate Digit Identities

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

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Cilia and Hedgehog responsiveness in the mouse

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Pattern formation in the vertebrate neural tube: a sonic hedgehog morphogen-regulated transcriptional network

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The Graded Response to Sonic Hedgehog Depends on Cilia Architecture

Caspary, T., Larkins, C. E., & Anderson, K. V. (2007) · Developmental Cell · doi:10.1016/j.devcel.2007.03.004 · Cited by 729 · see citing works

Genetic manipulation of hedgehog signaling in the endochondral skeleton reveals a direct role in the regulation of chondrocyte proliferation

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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Interpretation of the sonic hedgehog morphogen gradient by a temporal adaptation mechanism

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

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Specification of neuronal fates in the ventral neural tube

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Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

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Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

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Dynamic Changes in the Response of Cells to Positive Hedgehog Signaling during Mouse Limb Patterning

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

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Gene Regulatory Logic for Reading the Sonic Hedgehog Signaling Gradient in the Vertebrate Neural Tube

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Primary cilia can both mediate and suppress Hedgehog pathway–dependent tumorigenesis

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The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins

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All Mouse Ventral Spinal Cord Patterning by Hedgehog Is Gli Dependent and Involves an Activator Function of Gli3

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Transducing Hedgehog: the story so far

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

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Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

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Centriole distal appendages promote membrane docking, leading to cilia initiationPreprint

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Proteomics of Primary Cilia by Proximity Labeling

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Dual and opposing roles of primary cilia in medulloblastoma development

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Indian hedgehog activates hematopoiesis and vasculogenesis and can respecify prospective neurectodermal cell fate in the mouse embryo

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al‐Gazali, L., Sztriha, L., Bayoumi, R., Zaki, M. S., Aleem, A. K. A., Rosti, R. Ö., et al. (2009) · Nature Genetics · doi:10.1038/ng.423 · Cited by 397 · see citing works

Intraflagellar transport is essential for endochondral bone formation

Haycraft, C. J., Zhang, Q., Song, B., Jackson, W. S., Detloff, P. J., Serra, R. A., & Yoder, B. K. (2006) · Development · doi:10.1242/dev.02732 · Cited by 395 · see citing works

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

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Selective targeting of somatostatin receptor 3 to neuronal cilia

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Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway

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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

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compère, P., Schiffmann, S. N., et al. (2009) · Nature Genetics · doi:10.1038/ng.427 · Cited by 339 · see citing works

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

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THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

Tran, P. V., Haycraft, C. J., Besschetnova, T. Y., Turbé-Doan, A., Stottmann, R. W., Herron, B. J., Chesebro, A. L., Qiu, H., Scherz, P., Shah, J. V., et al. (2008) · Nature Genetics · doi:10.1038/ng.105 · Cited by 337 · 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

Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling

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Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain

Bishop, G. A., Berbari, N. F., Lewis, J., & Mykytyn, K. (2007) · Journal of Comparative Neurology · doi:10.1002/cne.21510 · Cited by 317 · see citing works

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

Spassky, N., Han, Y.-G., Aguilar, A., Strehl, L., Besse, L., Laclef, C., Romaguera Ros, M., Garcia-Verdugo, J. M., & Alvarez-Buylla, A. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.02.026 · Cited by 314 · see citing works

The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment

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Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

Liem, K. F., He, M., Ocbina, P. J. R., & Anderson, K. V. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906944106 · Cited by 300 · see citing works

Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy

Mak, K. K., Kronenberg, H. M., Chuang, P., Mackem, S., & Yang, Y. (2008) · Development · doi:10.1242/dev.018044 · Cited by 279 · see citing works

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518047 · Cited by 276 · see citing works

Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output

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The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis

Goetz, S. C., Liem, K. F., & Anderson, K. V. (2012) · Cell · doi:10.1016/j.cell.2012.10.010 · Cited by 267 · 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

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Kyttälä, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola–Sakki, P., Peltonen, L., & Kestilä, M. (2006) · Nature Genetics · doi:10.1038/ng1714 · Cited by 258 · see citing works

Kinetics of Hedgehog-Dependent Full-Length Gli3 Accumulation in Primary Cilia and Subsequent Degradation

Wen, X., Lai, C. K., Evangelista, M., Hongo, J.-A. S., de Sauvage, F. J., & Scales, S. J. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.01089-09 · Cited by 257 · see citing works

The Mammalian Cos2 Homolog Kif7 Plays an Essential Role in Modulating Hh Signal Transduction during Development

Endoh‐Yamagami, S., Evangelista, M., Wilson, D. G., Wen, X., Theunissen, J.-W. F., Phamluong, K., Davis, M., Scales, S. J., Solloway, M. J., de Sauvage, F. J., et al. (2009) · Current Biology · doi:10.1016/j.cub.2009.06.046 · Cited by 256 · see citing works

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Dagoneau, N., Goulet, M., Geneviève, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.016 · Cited by 253 · see citing works

The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling

Cheung, H. O.-L., Zhang, X., Ribeiro, A., Mo, R., Makino, S., Puviindran, V., Law, K. K. L., Briscoe, J., & Hui, C. (2009) · Science Signaling · doi:10.1126/scisignal.2000405 · Cited by 249 · see citing works

Localization of 5-HT6 receptors at the plasma membrane of neuronal cilia in the rat brain

Brailov, I., Bancila, M., Brisorgueil, M.-J., Miquel, M.-C., Hamon, M., & Vergé, D. (2000) · Brain Research · doi:10.1016/s0006-8993(00)02519-1 · Cited by 245 · see citing works

Gli Protein Activity Is Controlled by Multisite Phosphorylation in Vertebrate Hedgehog Signaling

Niewiadomski, P., Kong, J. H., Ahrends, R., Ma, Y., Humke, E. W., Khan, S., Teruel, M. N., Novitch, B. G., & Rohatgi, R. (2014) · Cell Reports · doi:10.1016/j.celrep.2013.12.003 · Cited by 239 · see citing works

Primary Cilia and the Cell Cycle

Plotnikova, O. V., Pugacheva, E. N., & Golemis, E. A. (2009) · Methods in Cell Biology · doi:10.1016/s0091-679x(08)94007-3 · Cited by 236 · see citing works

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbø, M., Filhol-Blin, E., Bôle‐Feysot, C., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.001 · Cited by 235 · 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

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Ruiz‐Pérez, V. L., Tompson, S. W. J., Blair, J. H., Espinoza‐Valdez, C., Lapunzina, P. D., Silva, E. O., Hamel, B. C. J., Gibbs, J. L., Young, I. D., Wright, M. J., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/368063 · Cited by 224 · see citing works

Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification

Regard, J. B., Malhotra, D., Gvozdenovic‐Jeremic, J., Josey, M., Chen, M., Weinstein, L. S., Lü, J., Shore, E. M., Kaplan, F. S., & Yang, Y. (2013) · Nature Medicine · doi:10.1038/nm.3314 · Cited by 224 · see citing works

IFT25 Links the Signal-Dependent Movement of Hedgehog Components to Intraflagellar Transport

Keady, B. T., Samtani, R., Tobita, K., Tsuchya, M., San Agustin, J. T., Follit, J. A., Jonassen, J. A., Subramanian, R., Lo, C. W., & Pazour, G. J. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.04.009 · Cited by 216 · see citing works

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

Liem, K. F., Ashe, A., He, M., Satir, P., Moran, J., Beier, D., Wicking, C., & Anderson, K. V. (2012) · Journal of Cell Biology · doi:10.1083/jcb.201110049 · Cited by 214 · see citing works

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Perrault, I., Saunier, S., Hanein, S., Filhol-Blin, E., Bizet, A. A., Collins, F. A., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.03.006 · Cited by 213 · see citing works

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

Bonnafé, E., Touka, M., Ait‐Lounis, A., Baas, D., Barras, E., Ucla, C., Moreau, A., Flamant, F., Dubruille, R., Couble, P., et al. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.10.4417-4427.2004 · Cited by 211 · see citing works

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

Houlden, H., Johnson, J. O., Gardner‐Thorpe, C., Lashley, T., Hernandez, D. G., Worth, P. F., Singleton, A., Hilton, D. A., Holton, J. L., Révész, T., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.43 · Cited by 210 · see citing works

Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia

Huang, P., & Schier, A. F. (2009) · Development · doi:10.1242/dev.041343 · Cited by 210 · see citing works

Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool

Chizhikov, V. V., Davenport, J., Zhang, Q., Shih, E. K., Cabello, O. A., Fuchs, J. L., Yoder, B. K., & Millen, K. J. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.5586-06.2007 · Cited by 204 · see citing works

Electron-tomographic analysis of intraflagellar transport particle trains in situ

Pigino, G., Geimer, S., Lanzavecchia, S., Paccagnini, E., Cantele, F., Diener, D. R., Rosenbaum, J. L., & Lupetti, P. (2009) · The Journal of Cell Biology · doi:10.1083/jcb.200905103 · Cited by 204 · see citing works

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Walczak‐Sztulpa, J., Eggenschwiler, J. T., Osborn, D. P. S., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C. M., Torre, G., Garshasbi, M., Tzschach, A., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.012 · Cited by 203 · see citing works

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Ruiz‐Pérez, V. L., Blair, H. J., Rodriguez-Andres, M. E., Blanco, M. J., Wilson, A., Liu, Y., Miles, C. G., Peters, H., & Goodship, J. A. (2007) · Development · doi:10.1242/dev.007542 · Cited by 195 · see citing works

Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo

Bazzi, H., & Anderson, K. V. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1400568111 · Cited by 194 · see citing works

Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube

Tuson, M., He, M., & Anderson, K. V. (2011) · Development · doi:10.1242/dev.070805 · Cited by 192 · see citing works

ConditionalKif3aablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis

Koyama, E., Young, B. B., Nagayama, M., Shibukawa, Y., Enomoto‐Iwamoto, M., Iwamoto, M., MAEDA, Y. Y., Lanske, B., Song, B., Serra, R. A., et al. (2007) · Development · doi:10.1242/dev.001586 · Cited by 180 · see citing works

Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

Qin, J., Lin, Y., Norman, R. X., Ko, H. W., & Eggenschwiler, J. T. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011410108 · Cited by 176 · see citing works

Lineage specificity of primary cilia in the mouse embryo

Bangs, F. K., Schrode, N., Hadjantonakis, A.-K., & Anderson, K. V. (2015) · Nature Cell Biology · doi:10.1038/ncb3091 · Cited by 174 · see citing works

Hedgehog signaling controls mesenchymal growth in the developing mammalian digestive tract

Mao, J., Kim, B., Rajurkar, M., et al. (2010) · Development · doi:10.1242/dev.044586 · Cited by 173 · see citing works

Genetic analysis of hedgehog signalling in the Drosophila embryo

Forbes, A. J., Nakano, Y., Taylor, A. M., & Ingham, P. W. (1993) · Development · doi:10.1242/dev.119.supplement.115 · Cited by 169 · see citing works

Genetic regulation of stem cell origins in the mouse embryo

Ralston, A., & Rossant, J. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00478.x · Cited by 168 · see citing works

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

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Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

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