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

Proteome balance in ciliopathies: the OFD1 protein example

Morleo, M., Pezzella, N., & Franco, B. (2022) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2022.11.007 · Cited by 10

Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies

Rabiasz, A., & Ziętkiewicz, E. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054472 · Cited by 10

Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence

Mahajan, D., Madugula, V., & Lü, L. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.104604 · Cited by 10

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

Zufiaurre-Seijo, M., García‐Arumí, J., & Duarri, A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241310670 · Cited by 10

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Barbeito, P., Martin-Morales, R., Palencia‐Campos, A., Cerrolaza, J., Rivas-Santos, C., Gallego-Colastra, L., Caparros-Martin, J. A., Martin-Bravo, C., Martín-Hurtado, A., Sánchez-Bellver, L., et al. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1190258 · Cited by 10

Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma

Green, T. E., Fujita, A., Ghaderi, N., Heinzen, E. L., Matsumoto, N., Klein, K. M., Berkovic, S. F., & Hildebrand, M. S. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106261 · Cited by 10

Distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility

Fang, C., Pan, X., Li, D., Chen, W., Huang, Y., Chen, Y., Li, L., Gao, Q., Liang, X., Li, D., et al. (2024) · The Journal of Cell Biology · doi:10.1083/jcb.202312060 · Cited by 10

IFT172 as the 19th gene causative of oral‐facial‐digital syndrome

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M., & Kosaki, K. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61373 · Cited by 10

Clinical Implications of Primary Cilia in Skin Cancer

Choudhury, A., Neumann, N. M., Raleigh, D. R., & Lang, U. E. (2020) · Dermatology and Therapy · doi:10.1007/s13555-020-00355-1 · Cited by 9

Role of DZIP1–CBY–FAM92 transition zone complex in the basal body to membrane attachment and ciliary budding

Lapart, J.-A., Billon, A., Duteyrat, J.-L., Thomas, J., & Durand, B. (2020) · Biochemical Society Transactions · doi:10.1042/bst20191007 · Cited by 10

Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity

Hibino, E., Ichiyama, Y., Tsukamura, A., Senju, Y., Morimune, T., Ohji, M., Maruo, Y., Nishimura, M., & Mori, M. (2022) · BMC Biology · doi:10.1186/s12915-022-01246-x · Cited by 10

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome

Thomas, D. C., Janani, D. M., Prabhakar, V., Ajayakumar, A., & Pitchumani, P. K. (2022) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31969 · Cited by 11

Modulation of Primary Cilia by Alvocidib Inhibition of CILK1

Wang, E. X., Turner, J. S., Brautigan, D. L., & Fu, Z. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23158121 · Cited by 10

Microscopy-Based Automated Live Cell Screening for Small Molecules That Affect Ciliation

Zhang, P., Kiseleva, A. A., Korobeynikov, V. A., Liu, H., Einarson, M. B., & Golemis, E. A. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00075 · Cited by 13

NRF2 and Primary Cilia: An Emerging Partnership

Martín-Hurtado, A., Lastres‐Becker, I., Cuadrado, A., & García-Gonzalo, F. R. (2020) · Antioxidants · doi:10.3390/antiox9060475 · Cited by 11

Temporal ablation of the ciliary protein IFT88 alters normal brainwave patterns

Strobel, M. R., Zhou, Y., Qiu, L., Hofer, A. M., & Chen, X. (2025) · Scientific Reports · doi:10.1038/s41598-024-83432-1 · Cited by 9

CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation

Prassanawar, S. S., Sarkar, T., & Panda, D. (2024) · Journal of Cell Science · doi:10.1242/jcs.261927 · Cited by 9

Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects

Tasaki, K., Zhou, Z., Ishida, Y., Katoh, Y., & Nakayama, K. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad112 · Cited by 9

Cep104 is a component of the centriole distal tip complex that regulates centriole growth and contributes to Drosophila spermiogenesis

Ryniawec, J. M., Hannaford, M. R., Zibrat, M. E., Fagerstrom, C. J., Galletta, B. J., Aguirre, S. E., Guice, B. A., Dean, S. M., Rusan, N. M., & Rogers, G. C. (2023) · Current Biology · doi:10.1016/j.cub.2023.08.075 · Cited by 9

Live-Imaging Centriole Amplification in Mouse Brain Multiciliated Cells

Boudjema, A.-R., Jord, A. A., Lemaître, A.-I., Faucourt, M., Delgehyr, N., Spassky, N., & Meunier, A. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-3507-0_10 · Cited by 9

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)

Bannell, T. A. K., & Cockburn, J. J. B. (2023) · Annals of Human Genetics · doi:10.1111/ahg.12535 · Cited by 9

ARL3 GTPases facilitate ODA16 unloading from IFT in motile cilia

Huang, Y., Dong, X., Sun, S., Lim, T. K., Lin, Q., & He, C. Y. (2024) · Science Advances · doi:10.1126/sciadv.adq2950 · Cited by 9

Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development

Moye, A. R., Robichaux, M. A., Agosto, M. A., Moulin, A., Graff-Meyer, A., Rivolta, C., & Wensel, T. G. (2025) · Journal of Cell Science · doi:10.1242/jcs.263869 · Cited by 9

Proximity labeling proteomics maps radial glial ciliary proteins across the developing telencephalon

Liu, X., Gutierrez, O. T., Baboo, S., Cai, E., Kaur, G., Al-Issa, Y., Diedrich, J. K., Yates, J. R., & Ge, X. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.117355 · Cited by 10

The ciliopathy gene product Cep290 is required for primary cilium formation and microtubule network organization

Firat‐Karalar, E. N. (2018) · TURKISH JOURNAL OF BIOLOGY · doi:10.3906/biy-1805-25 · Cited by 9

FOP Negatively Regulates Ciliogenesis and Promotes Cell Cycle Re-entry by Facilitating Primary Cilia Disassembly

Jiang, H., Liu, S., Cheung, M. H., Amin, A., & Liang, C. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.590449 · Cited by 9

Centriolar Protein C2cd3 Is Required for Craniofacial Development

Chang, C., Brown, K. M., Yang, Y., & Brugmann, S. A. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.647391 · Cited by 9

The dynamic organelle primary cilia: emerging roles in organ fibrosis

Bhattacharyya, D., Teves, M. E., & Varga, J. (2021) · Current Opinion in Rheumatology · doi:10.1097/bor.0000000000000841 · Cited by 9

Patient-derived cellular models of primary ciliopathies

Pollara, L., Sottile, V., & Valente, E. M. (2022) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2021-108315 · Cited by 10

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract

Harris, M., Schuh, M. P., McKinney, D. N., Kaufman, K. M., & Erkan, E. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.898773 · Cited by 9

Testing the ion-current model for flagellar length sensing and IFT regulation

Ishikawa, H., Moore, J., Diener, D. R., Delling, M., & Marshall, W. F. (2023) · eLife · doi:10.7554/elife.82901 · Cited by 9

The role of a ciliary GTPase in the regulation of neuronal maturation of olfactory sensory neurons

Habif, J. C., Xie, C., de Celis, C., Ukhanov, K., Green, W. W., Moretta, J. C., Zhang, L., Campbell, R. J., & Martens, J. R. (2023) · Development · doi:10.1242/dev.201116 · Cited by 9

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility

Pereira, R., Carvalho, V., Dias, C., Barbosa, T., Oliveira, J., Alves, Â., Oliveira, E., Sá, R., & Sousa, M. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02755-6 · Cited by 9

Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways

Grabinski, S. E., Parsana, D., & Perkins, B. D. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1148840 · Cited by 10

Dynein-2–driven intraciliary retrograde trafficking indirectly requires multiple interactions of IFT54 in the IFT-B complex with the dynein-2 complex

Hiyamizu, S., Qiu, H., Tsurumi, Y., Hamada, Y., Katoh, Y., & Nakayama, K. (2023) · Biology Open · doi:10.1242/bio.059976 · Cited by 9

Primary cilia and actin regulatory pathways in renal ciliopathies

Kalot, R. K., Sentell, Z. T., Kitzler, T. M., & Torban, E. (2024) · Frontiers in Nephrology · doi:10.3389/fneph.2023.1331847 · Cited by 11

m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression

Xie, S., Kuang, W., Guo, M., Yang, F., Jin, H., Chen, X., Yi, L., Huo, C., Xu, Z., Lin, A., et al. (2024) · The Journal of Cell Biology · doi:10.1083/jcb.202307002 · Cited by 9

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies

Smith, C. E. L., Streets, A. J., Lake, A. V. R., Natarajan, S., Best, S. K., Szymańska, K., Karwatka, M., Stevenson, T., Trowbridge, R., Grant, G., et al. (2025) · Communications Medicine · doi:10.1038/s43856-025-00847-1 · Cited by 11

Mapping Cellular Polarity Networks Using Mass Spectrometry-based Strategies

Daulat, A. M., Puvirajesinghe, T. M., Camoin, L., & Borg, J. (2018) · Journal of Molecular Biology · doi:10.1016/j.jmb.2018.05.023 · Cited by 10

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

Jaffal, L., Joumaa, W. H., Assi, A., Helou, C., Cherfan, G. M., Zibara, K., Audo, I. S., Zeitz, C., & Shamieh, S. E. (2019) · Genes · doi:10.3390/genes10121047 · Cited by 9

Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome

Liu, Q., Wang, H.-Q., Zhao, J., Liu, Z., Sun, D., Yuan, A., Luo, G., Wei, W., & Hou, M. (2020) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10029 · Cited by 9

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

Srivastava, S., Manisha, R., Dwivedi, A., Agarwal, H., Saxena, D., Agrawal, V., & Mandal, K. (2021) · Fetal and Pediatric Pathology · doi:10.1080/15513815.2021.2007434 · Cited by 9

CNPY4 inhibits the Hedgehog pathway by modulating membrane sterol lipids

Lo, M., Sharir, A., Paul, M. D., Torosyan, H., Agnew, C., Li, A., Neben, C. L., Marangoni, P., Xu, L., Raleigh, D. R., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30186-x · Cited by 9

CEP19–RABL2–IFT-B axis controls BBSome-mediated ciliary GPCR export

Zhou, Z., Katoh, Y., & Nakayama, K. (2022) · Molecular Biology of the Cell · doi:10.1091/mbc.e22-05-0161 · Cited by 9

Albatross/FBF1 contributes to both centriole duplication and centrosome separation

Inoko, A., Yano, T., Miyamoto, T., Matsuura, S., Kiyono, T., Goshima, N., Inagaki, M., & Hayashi, Y. (2018) · Genes to Cells · doi:10.1111/gtc.12648 · Cited by 9

Tetrahymena Poc5 is a transient basal body component that is important for basal body maturation

Heydeck, W., Bayless, B. A., Stemm-Wolf, A. J., O'Toole, E. T., Fabritius, A. S., Ozzello, C., Nguyen, M., & Winey, M. (2020) · Journal of Cell Science · doi:10.1242/jcs.240838 · Cited by 9

Flagellar targeting of an arginine kinase requires a conserved lipidated protein intraflagellar transport (LIFT) pathway in Trypanosoma brucei

Pandey, M., Huang, Y., Lim, T. K., Lin, Q., & He, C. Y. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.014287 · Cited by 9

DAB2IP modulates primary cilia formation associated with renal tumorigenesis

Lin, C., Dang, A., Hernández, E., & Hsieh, J. (2020) · Neoplasia · doi:10.1016/j.neo.2020.12.002 · Cited by 10

Centriole Positioning: Not Just a Little Dot in the Cell

Román, Á., Garrido-Jiménez, S., Díaz-Chamorro, S., Centeno, F., & Carvajal-González, J. M. (2019) · Results and problems in cell differentiation · doi:10.1007/978-3-030-23173-6_8 · Cited by 10

Actin cytoskeletal regulation of ciliogenesis in development and disease

Hufft‐Martinez, B. M., Wang, H. H., Saadi, I., & Tran, P. V. (2024) · Developmental Dynamics · doi:10.1002/dvdy.724 · Cited by 8

The Molecular Intersection of NEK1, C21ORF2, Cyclin F, and VCP in ALS Pathogenesis

Watanabe, Y., Nakagawa, T., Nakagawa, M., & Nakayama, K. (2025) · Genes · doi:10.3390/genes16040407 · Cited by 8

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot

Zhou, Y., Jiang, T., Gao, J., Zang, J., Mo, X., Yue, S., Cui, Y., Wang, Q., Da, M., Xu, J., et al. (2025) · Science Advances · doi:10.1126/sciadv.adt0836 · Cited by 8

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino, A., Yu, J., Arno, G., Pontikos, N., Halford, S., Broadgate, S., Michaelides, M., Carss, K., Raymond, F. L., Cheetham, M. E., et al. (2018) · PubMed Central · Cited by 8

A complement factor H homolog, heparan sulfation, and syndecan maintain inversin compartment boundaries in C. elegans cilia

Acker, N., Smith, H. E., Devine, C., Oltjen, S. L., Tsiropoulou, S., Smit‐McBride, Z., Lange, K. I., Blacque, O. E., Matsubara, J. A., Gordus, A. G., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2016698118 · Cited by 8

Live Imaging and Analysis of Cilia and Cell Cycle Dynamics with the Arl13bCerulean-Fucci2a Biosensor and Fucci Tools

Kerckvoorde, M. V., Ford, M. J., Yeyati, P. L., Mill, P., & Mort, R. L. (2021) · Methods in molecular biology · doi:10.1007/978-1-0716-1538-6_21 · Cited by 8

Visualizing multiciliated cells in the zebrafish

Wesselman, H. M., Gatz, A. E., & Wingert, R. A. (2023) · Methods in cell biology · doi:10.1016/bs.mcb.2022.12.001 · Cited by 8

Primary Cilia Are Frequently Present in Small Cell Lung Carcinomas but Not in Non–Small Cell Lung Carcinomas or Lung Carcinoids

Shinmura, K., Kato, H., Kawasaki, H., Hariyama, T., Yoshimura, K., Tsuchiya, K., Watanabe, H., Ohta, I., Asahina, E., Sumiyoshi, F., et al. (2023) · Laboratory Investigation · doi:10.1016/j.labinv.2022.100007 · Cited by 9

Lithium-induced ciliary lengthening sparks Arp2/3 complex–dependent endocytosis

Bigge, B. M., Dougherty, L. L., & Avasthi, P. P. (2023) · Molecular Biology of the Cell · doi:10.1091/mbc.e22-06-0219 · Cited by 8

Ependyma in Neurodegenerative Diseases, Radiation-Induced Brain Injury and as a Therapeutic Target for Neurotrophic Factors

Ma, X., Yang, T., Liu, L., Peng, X., Qian, F., & Tang, F.-R. (2023) · Biomolecules · doi:10.3390/biom13050754 · Cited by 8

BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice

Cao, H., Xu, H., Zhou, Y., Xu, W., Lu, Q., Jiang, L., Rong, Y., Zhang, Q., & Yu, C. Y. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-04800-0 · Cited by 8

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Leggatt, G., Cheng, G., Narain, S., Briseño-Roa, L., Annereau, J., Ambrose, J. C., Arumugam, P., Bevers, R. P. J., Bleda, M., Boardman-Pretty, F., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-32169-4 · Cited by 8

Recruitment of transcription factor ETS1 to activated accessible regions promotes the transcriptional program of cilia genes

Zhang, D., Zhang, C., Zhu, Y., Xie, H., Yue, C., Li, M.-F., Wei, W.-L., Peng, Y., Yin, G., Guo, Y., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad506 · Cited by 6

Functions of the primary cilium in the kidney and its connection with renal diseases

Clearman, K. R., Haycraft, C. J., Croyle, M. J., Collawn, J. F., & Yoder, B. K. (2023) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2023.07.001 · Cited by 8

PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity

Fiedler, J., Moennig, T., Hinrichs, J. H., Weber, A., Wagner, T., Hemmer, T., Schröter, R., Weide, T., Epting, D., Bergmann, C., et al. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-04994-3 · Cited by 9

The miR‐669a‐5p/G3BP/HDAC6/AKAP12 Axis Regulates Primary Cilia Length

Wang, W., Dai, X., Li, Y., Li, M., Chi, Z., Hu, X., & Wang, Z. (2023) · Advanced Science · doi:10.1002/advs.202305068 · Cited by 8

IFT88 maintains sensory function by localising signalling proteins along Drosophila cilia

Werner, S., Okenve-Ramos, P., Hehlert, P., Zitouni, S., Priya, P., Mendonça, S., Sporbert, A., Spalthoff, C., Göpfert, M. C., Jana, S. C., et al. (2024) · Life Science Alliance · doi:10.26508/lsa.202302289 · Cited by 8

Ciliogenesis defects after neurulation impact brain development and neuronal activity in larval zebrafish

D’Gama, P. P., Jeong, I., Nygård, A. M., Trinh, A., Yaksi, E., & Jurisch‐Yaksi, N. (2024) · iScience · doi:10.1016/j.isci.2024.110078 · Cited by 11

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

Strong, A., March, M., Cardinale, C. J., Liu, Y., Battig, M. R., Finoti, L. S., Matsuoka, L. S., Watson, D. J., Sridhar, S., Jarrett, J., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101222 · Cited by 8

Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival

Chaya, T., Maeda, Y., Tsutsumi, R., Ando, M., Ma, Y., Kajimura, N., Tanaka, T., & Furukawa, T. (2024) · Life Science Alliance · doi:10.26508/lsa.202402880 · Cited by 8

Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome

Curinha, A., Huang, Z., Anglen, T., Strong, M. A., Gliech, C. R., Jewett, C. E., Friskes, A., Phan, T. P., Nicholas, Z., & Holland, A. J. (2025) · The Journal of Cell Biology · doi:10.1083/jcb.202403022 · Cited by 8

Cilia directionality reveals a slow reverse movement of principal neurons for positioning and lamina refinement in the cerebral cortex

Yang, J., Mirhosseiniardakani, S., Qiu, L., Bicja, K., Greco, A. D., Lin, K. J., Lyon, M., & Chen, X. (2025) · Development · doi:10.1242/dev.204300 · Cited by 10

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

Vázquez, N., Lee, C., Valenzuela, I., Phan, T. P., Derderian, C., Chávez, M., Mooney, N. A., Demeter, J., Aziz‐Zanjani, M. O., Cuscó, I., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61005-8 · Cited by 8

Bexarotene – a novel modulator of AURKA and the primary cilium in VHL -deficient cells

Chowdhury, P., Powell, R. T., STEPHAN, C. C., Uray, I. P., Talley, T., Karki, M., Tripathi, D. N., Park, Y. S., Mancini, M. A., Davies, P. J., et al. (2018) · Journal of Cell Science · doi:10.1242/jcs.219923 · Cited by 8

Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants

Lam, Z., Albaba, S., Study, D., & Balasubramanian, M. (2019) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000298 · Cited by 8

The primary cilia in diabetic kidney disease: A tubulocentric view?

Panchapakesan, U., & Pollock, C. A. (2020) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2020.105718 · Cited by 8

Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes

Rao, V. G., & Kulkarni, S. S. (2021) · genesis · doi:10.1002/dvg.23414 · Cited by 8

Primary cilia and the DNA damage response: linking a cellular antenna and nuclear signals

Morrison, C. G. (2021) · Biochemical Society Transactions · doi:10.1042/bst20200751 · Cited by 8

Kinase-anchoring proteins in ciliary signal transduction

Gopalan, J., Wordeman, L. G., & Scott, J. D. (2021) · Biochemical Journal · doi:10.1042/bcj20200869 · Cited by 8

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

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Autophagy-mediated reduction of miR-345 contributes to hepatic cystogenesis in polycystic liver disease

Masyuk, T. V., Masyuk, A. I., Trussoni, C. E., Howard, B. N., Ding, J., Huang, B. Q., & LaRusso, N. F. (2021) · JHEP Reports · doi:10.1016/j.jhepr.2021.100345 · Cited by 8

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2

Shak, C., Vuolo, L., Uddin, B., Katoh, Y., Brown, T. P., Mukhopadhyay, A. G., Heesom, K. J., Roberts, A. J., Stevenson, N. L., Nakayama, K., et al. (2022) · Journal of Cell Science · doi:10.1242/jcs.260073 · Cited by 9

ODF2 Negatively Regulates CP110 Levels at the Centrioles/Basal Bodies to Control the Biogenesis of Primary Cilia

Otto, M., & Hoyer‐Fender, S. (2023) · Cells · doi:10.3390/cells12172194 · Cited by 8

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Mégarbané, A., Hmaimess, G., Bizzari, S., El-Bazzal, L., Al‐Ali, M. T., Stora, S., Delague, V., & El‐Hayek, S. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.11.010 · Cited by 8

The role of endothelial cilia in postembryonic vascular development

Elworthy, S., Savage, A. M., Wilkinson, R. N., Malicki, J. J., & Chico, T. (2019) · Developmental Dynamics · doi:10.1002/dvdy.40 · Cited by 8

Cobalt chloride-simulated hypoxia elongates primary cilia in immortalized human retina pigment epithelial-1 cells

Qiao, Y., Wang, Z., Bunikyte, R., Chen, X., Jin, S., Qi, X., Cai, D., & Feng, S. (2021) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2021.03.097 · Cited by 9

FBW7 couples structural integrity with functional output of primary cilia

Petsouki, E., Gerakopoulos, V., Szeto, N., Chang, W., Humphrey, M. B., & Tsiokas, L. (2021) · Communications Biology · doi:10.1038/s42003-021-02504-4 · Cited by 8

Therapeutic perspectives for structural and functional abnormalities of cilia

Kim, Y. J., & Kim, J. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-019-03158-6 · Cited by 13

Long-Pentraxin 3 Affects Primary Cilium in Zebrafish Embryo and Cancer Cells via the FGF System

Guerra, J., Chiodelli, P., Tobia, C., Gerri, C., & Presta, M. (2020) · Cancers · doi:10.3390/cancers12071756 · Cited by 8

Renal ciliopathies

Devlin, L. A., Dewhurst, R. M., Sudhindar, P. D., & Sayer, J. A. (2025) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2025.01.009 · Cited by 8

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis

Carretero‐Vilarroig, L., Blanco-Máñez, R., Muñoz-Fernández, N., Ibáñez, I., Berzal-Serrano, A., Reula, A., García‐Bohórquez, B., Aller, E., García‐García, G., Millán, J. M., et al. (2025) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-025-00801-w · Cited by 7

Transcription factors SP5 and SP8 drive primary cilia formation in mammalian embryos

Liang, Y., Koche, R. P., Chalamalasetty, R. B., Stephen, D. N., Kennedy, M. W., Lao, Z., Pang, Y., Kuo, Y.-Y., Lee, M., Lobo, F. P., et al. (2025) · Science · doi:10.1126/science.adt5663 · Cited by 7

A High-Resolution Subcellular Map of Proteins in Cells with Motile Cilia

Bertilsson, F., Hikmet, F., Hansen, J. N., Uhlén, M., Méar, L., & Lindskog, C. (2025) · Journal of Proteome Research · doi:10.1021/acs.jproteome.5c00686 · Cited by 7

Regulated processing and secretion of a peptide precursor in cilia

Luxmi, R., Mains, R. E., Eipper, B. A., & King, S. M. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2206098119 · Cited by 7

Cilia proteins getting to work – how do they commute from the cytoplasm to the base of cilia?

Hibbard, J. V. K., Vázquez, N., & Wallingford, J. B. (2022) · Journal of Cell Science · doi:10.1242/jcs.259444 · Cited by 9

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Devlin, L. A., Coles, J. L., Jackson, C. L., Barroso‐Gil, M., Green, B., Walker, W. T., Thomas, N. S., Thompson, J., Rock, S. A., Neatu, R., et al. (2022) · Clinical Genetics · doi:10.1111/cge.14251 · Cited by 7

The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia

Turner, J. S., McCabe, E. A., Kuang, K. W., Gailey, C. D., Brautigan, D. L., Limerick, A., Wang, E. X., & Fu, Z. (2023) · Molecular and Cellular Biology · doi:10.1080/10985549.2023.2246870 · Cited by 7

A novel role for the chloride intracellular channel protein Clic5 in ciliary function

Ott, E. B., Hoff, S., Indorf, L., Ditengou, F. A., Müller, J., Renschler, G., Lienkamp, S. S., Kramer-Zucker, A. G., Bergmann, C., & Epting, D. (2023) · Scientific Reports · doi:10.1038/s41598-023-44235-y · Cited by 8

The structure of basal body inner junctions from Tetrahymena revealed by electron cryo-tomography

Li, S., Fernández, J., Ruehle, M. D., Howard-Till, R. A., Fabritius, A. S., Pearson, C. G., Agard, D. A., & Winey, M. (2025) · The EMBO Journal · doi:10.1038/s44318-025-00392-6 · Cited by 7

Primary cilia shape postnatal astrocyte development through Sonic Hedgehog signaling

Bear, R. M., Sloan, S. A., & Caspary, T. (2025) · Journal of Cell Science · doi:10.1242/jcs.263965 · Cited by 7

Tet2 loss and enhanced ciliogenesis suppress α-synuclein pathology

Emmanuel, Q., Vatsa, N., Ensink, E., Brown, J., Cave, T., Aguileta, M., Kuhn, E., Lindquist, A., Gilliland, C., Steiner, J. A., et al. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-01988-z · Cited by 7

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

Cárdenas-Rodríguez, M., & Badano, J. L. (2009) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30227 · Cited by 168

Motile and non-motile cilia in human pathology: From function to phenotypes

Mitchison, H. M., & Valente, E. M. (2017) · The Journal of Pathology · doi:10.1002/path.4843 · Cited by 448

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

Adams, M., Smith, U. M., Logan, C. V., & Johnson, C. A. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.054999 · Cited by 147

The dynamic cilium in human diseases

D'Angelo, A., & Franco, B. (2009) · PathoGenetics · doi:10.1186/1755-8417-2-3 · Cited by 94

The nonmotile ciliopathies

Tobin, J. L., & Beales, P. L. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181a02882 · Cited by 220