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

Ciliogenesis requires sphingolipid-dependent membrane and axoneme interaction

Wu, D., Huang, J., Zhu, H., Chen, Z., Chai, Y., Ke, J., Lei, K., Peng, Z., Zhang, R., Li, X., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2201096119 · Cited by 23

DYF-5/MAK–dependent phosphorylation promotes ciliary tubulin unloading

Jiang, X., Shao, W., Chai, Y., Huang, J., Mohamed, M. A. A., Ökten, Z., Li, W., Zhu, Z., & Ou, G. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2207134119 · Cited by 24

Multiple ciliary localization signals control INPP5E ciliary targeting

Cilleros-Rodriguez, D., Martin-Morales, R., Barbeito, P., Deb Roy, A., Loukil, A., Sierra-Rodero, B., Herranz, G., Pampliega, O., Redrejo-Rodriguez, M., Goetz, S. C., et al. (2022) · eLife · doi:10.7554/elife.78383 · Cited by 23

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Khatri, D., Putoux, A., Cologne, A., Kaltenbach, S., Besson, A., Bertiaux, E., Guguin, J., Fendler, A., Dupont, M. A., Benoit‐Pilven, C., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2102569120 · Cited by 23

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Horani, A., Gupta, D. K., Xu, J., Xu, H., Molina, L. C. P., Santi, C. M., Ramagiri, S., Brennan, S. K., Pan, J., Koenitzer, J. R., et al. (2023) · JCI Insight · doi:10.1172/jci.insight.168836 · Cited by 23

Composition, structure and function of the eukaryotic flagellum distal tip

Croft, J. T., Zabeo, D., Subramanian, R., & Höög, J. L. (2018) · Essays in Biochemistry · doi:10.1042/ebc20180032 · Cited by 25

Ciliary and cytoskeletal functions of an ancient monooxygenase essential for bioactive amidated peptide synthesis

Kumar, D., Mains, R. E., Eipper, B. A., & King, S. M. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-019-03065-w · Cited by 26

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

Li, L., Fu, F., Li, R., Xiao, W., Yu, Q., Wang, D., Jing, X., Zhang, Y., Yang, X., Pan, M., et al. (2020) · Prenatal Diagnosis · doi:10.1002/pd.5732 · Cited by 23

Transportin-1: A Nuclear Import Receptor with Moonlighting Functions

Mboukou, A., Rajendra, V., Kleinová, R., Tisné, C., Jantsch, M. F., & Barraud, P. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.638149 · Cited by 23

Molecular genetics of renal ciliopathies

Barroso‐Gil, M., Olinger, E. G., & Sayer, J. A. (2021) · Biochemical Society Transactions · doi:10.1042/bst20200791 · Cited by 23

In vivo volumetric depth-resolved imaging of cilia metachronal waves using dynamic optical coherence tomography

Xia, T., Umezu, K., Scully, D. M., Wang, S., & Larina, I. V. (2023) · Optica · doi:10.1364/optica.499927 · Cited by 22

The multifaceted roles of microtubule-associated proteins in the primary cilium and ciliopathies

Deretic, J., Odabasi, E., & Firat‐Karalar, E. N. (2023) · Journal of Cell Science · doi:10.1242/jcs.261148 · Cited by 22

Targeting Primary Ciliogenesis with Small-Molecule Inhibitors

Guen, V. J., & Prigent, C. (2020) · Cell chemical biology · doi:10.1016/j.chembiol.2020.07.018 · Cited by 25

Centrosome instability: when good centrosomes go bad

Ryniawec, J. M., & Rogers, G. C. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03928-1 · Cited by 25

The exocyst complex in neurological disorders

Halim, D. O., Munson, M., & Gao, F. (2023) · Human Genetics · doi:10.1007/s00439-023-02558-w · Cited by 22

A phylogenetic profiling approach identifies novel ciliogenesis genes in Drosophila and C. elegans

Dobbelaere, J., Su, T. Y., Érdi, B., Schleiffer, A., & Dammermann, A. (2023) · The EMBO Journal · doi:10.15252/embj.2023113616 · Cited by 22

Regulation of ciliary homeostasis by intraflagellar transport-independent kinesins

Li, L., & Ran, J. (2024) · Cell Death and Disease · doi:10.1038/s41419-024-06428-9 · Cited by 25

IFT cargo and motors associate sequentially with IFT trains to enter cilia of C. elegans

Mitra, A., Loseva, E., & Peterman, E. J. G. (2024) · Nature Communications · doi:10.1038/s41467-024-47807-2 · Cited by 24

Golgi bypass of ciliary proteins

Witzgall, R. (2018) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2018.03.010 · Cited by 23

The Role of Primary Cilia in the Crosstalk between the Ubiquitin–Proteasome System and Autophagy

Wiegering, A., Rüther, U., & Gerhardt, C. (2019) · Cells · doi:10.3390/cells8030241 · Cited by 23

Cell type‐specific structural plasticity of the ciliary transition zone in C. elegans

Akella, J. S., Silva, M., Morsci, N. S., Nguyen, K. C. Q., Rice, W. J., Hall, D. H., & Barr, M. M. (2019) · Biology of the Cell · doi:10.1111/boc.201800042 · Cited by 25

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping

Chen, X., Garcelon, N., Neuraz, A., Billot, K., Lelarge, M., Bonald, T., García, H., Martin, Y., Benoît, V., Vincent, M., et al. (2019) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2019.103308 · Cited by 22

The HOPS complex subunit VPS39 controls ciliogenesis through autophagy

Iaconis, D., Crina, C., Brillante, S., Indrieri, A., Morleo, M., & Franco, B. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa029 · Cited by 22

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Epting, D., Senaratne, L. D. S., Ott, E. B., Holmgren, A., Sumathipala, D., Larsen, S. M., Wallmeier, J., Bracht, D. C., Frikstad, K.-A. M., Crowley, S., et al. (2020) · Human Mutation · doi:10.1002/humu.24127 · Cited by 22

Electron cryo-tomography structure of axonemal doublet microtubule from Tetrahymena thermophila

Li, S., Fernández, J., Fabritius, A. S., Agard, D. A., & Winey, M. (2021) · Life Science Alliance · doi:10.26508/lsa.202101225 · Cited by 22

In situ structure of the mouse sperm central apparatus reveals mechanistic insights into asthenozoospermia

Zhu, Y., Lin, T., Yin, G., Tai, L., Chen, L., Ma, J., Huang, G., Lu, Y. Y., Zhang, Z., Wang, B., et al. (2025) · Cell Research · doi:10.1038/s41422-025-01135-2 · Cited by 25

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Alfadhel, M., Umair, M., Almuzzaini, B., Asiri, A., Tuwaijri, A. A., Alhamoudi, K., Alyafee, Y., & Al‐Owain, M. A. (2021) · Molecular Syndromology · doi:10.1159/000513829 · Cited by 21

Developmental changes in ciliary composition during gametogenesis inChlamydomonas

Sakato-Antoku, M., & King, S. M. (2022) · Molecular Biology of the Cell · doi:10.1091/mbc.e22-02-0033 · Cited by 21

Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets

Saito, M., Otsu, W., Miyadera, K., & Nishimura, Y. (2023) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1232188 · Cited by 22

Navigating centriolar satellites: the role of PCM1 in cellular and organismal processes

Begar, E., Seyrek, E., & Firat‐Karalar, E. N. (2024) · FEBS Journal · doi:10.1111/febs.17194 · Cited by 23

Ciliary intrinsic mechanisms regulate dynamic ciliary extracellular vesicle release from sensory neurons

Wang, J., Saul, J., Nikonorova, I. A., Cruz, C. N., Power, K. M., Nguyen, K. C. Q., Hall, D. H., & Barr, M. M. (2024) · Current Biology · doi:10.1016/j.cub.2024.05.015 · Cited by 22

Live cell imaging of dynamic behaviors of motile cilia and primary cilium

Ijaz, F., & Ikegami, K. (2018) · Microscopy · doi:10.1093/jmicro/dfy147 · Cited by 23

Ammonia Exposure Induced Cilia Dysfunction of Nasal Mucosa in the Piglets

Wang, Q., Wang, M., Liu, C., Huang, L., Gao, Y., Yu, M., Zhao, S., & Li, X. (2020) · BioMed Research International · doi:10.1155/2020/1705387 · Cited by 22

An interphase pool of KIF11 localizes at the basal bodies of primary cilia and a reduction in KIF11 expression alters cilia dynamics

Zalenski, A. A., Majumder, S., De, K., & Venere, M. (2020) · Scientific Reports · doi:10.1038/s41598-020-70787-4 · Cited by 22

Primary Cilia and Atherosclerosis

Wang, Z., Gao, X., Zhang, J., & Chen, S. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.640774 · Cited by 22

INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons

Ukhanov, K., Uytingco, C. R., Green, W. W., Zhang, L., Schurmans, S., & Martens, J. R. (2021) · Journal of Cell Science · doi:10.1242/jcs.258364 · Cited by 22

Phosphorylation and Ubiquitylation Regulate Protein Trafficking, Signaling, and the Biogenesis of Primary Cilia

May, E. A., Sroka, T. J., & Mick, D. U. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.664279 · Cited by 23

Peripheral and central control of obesity by primary cilia

Wu, Y., Zhou, J. Y., & Yang, Y. (2023) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2022.12.006 · Cited by 22

Convergence of autism proteins at the ciliumPreprint

Kostyanovskaya, E., Lasser, M. C., Wang, B., Schmidt, J., Bader, E., Buteo, C., Arbelaez, J., Sindledecker, A. R., McCluskey, K. E., Castillo, O., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.05.626924 · Cited by 21

Induction of de novo centriole biogenesis in planarian stem cells

Tkemaladze, J. (2025) · Longevity Horizon · doi:10.65649/ae5096c6 · Cited by 20

The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis

Mansour, F., Boivin, F. J., Shaheed, I. B., Schueler, M., & Schmidt-Ott, K. M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222212253 · Cited by 23

Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes

Bentley‐Ford, M. R., LaBonty, M., Thomas, H. R., Haycraft, C. J., Scott, M., LaFayette, C., Croyle, M. J., Andersen, R. S., Parant, J. M., & Yoder, B. K. (2021) · Genetics · doi:10.1093/genetics/iyab209 · Cited by 21

Cleft Palate in Apert Syndrome

Willie, D., Holmes, G., Jabs, E. W., & Wu, M. (2022) · Journal of Developmental Biology · doi:10.3390/jdb10030033 · Cited by 20

CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins

Conkar, D., Odabasi, E., Deretic, J., Batman, U., Frikstad, K.-A. M., Patzke, S., & Firat‐Karalar, E. N. (2023) · Journal of Cell Science · doi:10.1242/jcs.260327 · Cited by 20

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development

Chee, J. M., Lanoue, L., Clary, D. A., Higgins, K., Bower, L. R., Flenniken, A., Guo, R.-L., Adams, D., Bosch, F., Braun, R., et al. (2023) · BMC Biology · doi:10.1186/s12915-022-01475-0 · Cited by 15

RPGRIP1L helps to establish the ciliary gate for entry of proteins

Lin, H., Guo, S., & Dutcher, S. K. (2018) · Journal of Cell Science · doi:10.1242/jcs.220905 · Cited by 21

Peroxiredoxin5 Controls Vertebrate Ciliogenesis by Modulating Mitochondrial Reactive Oxygen Species

Ji, Y., Chae, S., Lee, H.-K., Park, I., Kim, C., Ismail, T., Kim, Y., Park, J.-W., Kwon, O., Kang, B.-S., et al. (2018) · Antioxidants and Redox Signaling · doi:10.1089/ars.2018.7507 · Cited by 23

Common and distinct transcriptional signatures of mammalian embryonic lethality

Collins, J. E., White, R. J., Staudt, N. D., Sealy, I. M., Packham, I. M., Wali, N., Tudor, C. L., Icoresi-Mazzeo, C., Green, A., Siragher, E. J., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10642-x · Cited by 20

ESCRT subunit CHMP4B localizes to primary cilia and is required for the structural integrity of the ciliary membrane

Jung, E., Choi, T., Lee, J., Kim, C., & Kim, J. (2019) · The FASEB Journal · doi:10.1096/fj.201901778r · Cited by 20

Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis

Mukherjee, M., Ratnayake, I. S., Janga, M. R., Fogarty, E., Scheidt, S., Grassmeyer, J. J., deRiso, J., Chandrasekar, I., Ahrenkiel, P., Kopan, R., et al. (2020) · The FASEB Journal · doi:10.1096/fj.201902358rr · Cited by 20

Intraflagellar Transport Complex B Proteins Regulate the Hippo Effector Yap1 during Cardiogenesis

Peralta, M., López, L. O., Jeřábková, K., Lucchesi, T., Vitre, B., Han, D., Guillemot, L., Dingare, C., Sumara, I., Mercader, N., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107932 · Cited by 21

HTR6 and SSTR3 targeting to primary cilia

Barbeito, P., & Garcia-Gonzalo, F. R. (2021) · Biochemical Society Transactions · doi:10.1042/bst20191005 · Cited by 20

Primary Cilia Formation Does Not Rely on WNT/β-Catenin Signaling

Bernatík, O., Paclíková, P., Kotrbova, A. V., Bryja, V., & Čajánek, L. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.623753 · Cited by 23

Identification of key genes in SARS-CoV-2 patients on bioinformatics analysisPreprint

Gu, H., & Yuan, G. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.08.09.243444 · Cited by 20

The Emerging Role of Macrophages in Chronic Cholangiopathies Featuring Biliary Fibrosis: An Attractive Therapeutic Target for Orphan Diseases

Cadamuro, M., Girardi, N., Gores, G. J., Strazzabosco, M., & Fabris, L. (2020) · Frontiers in Medicine · doi:10.3389/fmed.2020.00115 · Cited by 19

In situ cryo-electron tomography reveals the progressive biogenesis of basal bodies and cilia in mouse ependymal cells

Ma, S., Li, L., Li, Z., Luo, S., Liu, Q., Du, W., Qiu, B., Gui, M., Zhu, X., & Guo, Q. (2025) · Nature Communications · doi:10.1038/s41467-025-61015-6 · Cited by 20

Identification of New Ciliary Signaling Pathways in the Brain and Insights into Neurological Disorders

Loukil, A., Ebright, E., Hamdi, K., Menzel, E., Uezu, A., Gao, Y., Soderling, S. H., & Goetz, S. C. (2025) · Journal of Neuroscience · doi:10.1523/jneurosci.0800-24.2025 · Cited by 20

COP9 signalosome complex subunit 5, an IFT20 binding partner, is essential to maintain male germ cell survival and acrosome biogenesis†

Huang, Q., Liu, H., Zeng, J., Li, W., Zhang, S., Zhang, L., Song, S., Zhou, T., Sutovsky, M., Šutovský, P., et al. (2019) · Biology of Reproduction · doi:10.1093/biolre/ioz154 · Cited by 19

Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene

Šedová, L., Buková, I., Bažantová, P., Petrezsélyová, S., Procházka, J., Školníková, E., Zudová, D., Včelák, J., Makovický, P., Bendlová, B., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22083810 · Cited by 19

Loss of Deacetylation Enzymes Hdac6 and Sirt2 Promotes Acetylation of Cytoplasmic Tubulin, but Suppresses Axonemal Acetylation in Zebrafish Cilia

Lysyganicz, P. K., Pooranachandran, N., Liu, X., Adamson, K. I., Zielonka, K., Elworthy, S., van Eeden, F. J., Grierson, A. J., & Malicki, J. J. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.676214 · Cited by 19

Cilia and Cancer: From Molecular Genetics to Therapeutic Strategies

Carotenuto, P., Gradilone, S. A., & Franco, B. (2023) · Genes · doi:10.3390/genes14071428 · Cited by 19

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Accogli, A., Shakya, S., Yang, T., Insinna, C., Kim, S. Y., Bell, D. R., Butov, K. R., Severino, M., Niceta, M., Scala, M., et al. (2024) · Nature Communications · doi:10.1038/s41467-023-44611-2 · Cited by 19

Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

Maddirevula, S., Shagrani, M. A., Ji, A., Horne, C. R., Young, S. N., Mather, L. J., Alqahtani, M. F., McKerlie, C., Wood, G. A., Potter, P. K., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101231 · Cited by 19

Tectonic Proteins Are Important Players in Non-Motile Ciliopathies

Gong, S., Ji, F., Wang, B., Zhang, Y., Xu, X., & Sun, M. (2018) · Cellular Physiology and Biochemistry · doi:10.1159/000494017 · Cited by 19

Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Ascari, G., Peelman, F., Farinelli, P., Rosseel, T., Lambrechts, N., Wunderlich, K. A., Wagner, M., Nikopoulos, K., Martens, P. C., Balikova, I., et al. (2020) · Human Mutation · doi:10.1002/humu.23993 · Cited by 20

Functional exploration of heterotrimeric kinesin-II in IFT and ciliary length control in Chlamydomonas

Li, S., Chen, W., Wan, K. Y., Tao, H., Liang, X., & Pan, J. (2020) · eLife · doi:10.7554/elife.58868 · Cited by 20

Genome‐wide association study identifies 7q11.22 and 7q36.3 associated with noise‐induced hearing loss among Chinese population

Niu, Y., Xie, C., Du, Z., Zeng, J., Chen, H., Jin, L., Zhang, Q., Yu, H., Wang, Y., Ping, J., et al. (2020) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.16094 · Cited by 19

Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis

Doreille, A., Raymond, L., Lèbre, A.-S., Linster, C., Lamri, R. S., Karras, A., Khayat, R., Michel, P. A., Buob, D., Luque, Y., et al. (2020) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.11890720 · Cited by 19

Roles for ELMOD2 and Rootletin in ciliogenesis

Turn, R. E., Linnert, J., Gigante, E. D., Wolfrum, U., Caspary, T., & Kahn, R. A. (2021) · Molecular Biology of the Cell · doi:10.1091/mbc.e20-10-0635 · Cited by 20

RNA editing restricts hyperactive ciliary kinases

Li, D., Liu, Y., Yi, P., Zhu, Z., Li, W., Zhang, Q. C., Li, J. B., & Ou, G. (2021) · Science · doi:10.1126/science.abd8971 · Cited by 19

A cell-based GEF assay reveals new substrates for DENN domains and a role for DENND2B in primary ciliogenesis

Kumar, R., Francis, V., Kulasekaran, G., Khan, M. Z., Armstrong, G. A. B., & McPherson, P. S. (2022) · Science Advances · doi:10.1126/sciadv.abk3088 · Cited by 20

Tumor Treating Fields Suppression of Ciliogenesis Enhances Temozolomide Toxicity

Shi, P., Tian, J., Ulm, B. S., Mallinger, J. C., Khoshbouei, H., Deleyrolle, L. P., & Sarkisian, M. R. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.837589 · Cited by 19

Multiple interactions of the dynein-2 complex with the IFT-B complex are required for effective intraflagellar transport

Hiyamizu, S., Qiu, H., Vuolo, L., Stevenson, N. L., Shak, C., Heesom, K. J., Hamada, Y., Tsurumi, Y., Chiba, S., Katoh, Y., et al. (2023) · Journal of Cell Science · doi:10.1242/jcs.260462 · Cited by 20

Calmodulin regulates a TRP channel (ADF1) and phospholipase C (PLC) to mediate elevation of cytosolic calcium during acidic stress that induces deflagellation in Chlamydomonas

Wu, Q., Gao, K., Zheng, S., Zhu, X., Liang, Y., & Pan, J. (2018) · The FASEB Journal · doi:10.1096/fj.201701396rr · Cited by 19

Human efferent ductules and epididymis display unique cell lineages with motile and primary cilia

Vinay, L., Hess, R. A., & Belleannée, C. (2024) · Andrology · doi:10.1111/andr.13732 · Cited by 18

Piezo1 and IFT88 synergistically regulate mandibular condylar chondrocyte differentiation under cyclic tensile strain

Zhang, Z., Sa, G., Wang, Z., Wei, Z., Zheng, L. W., Zhang, R., Zhu, X., & Yang, X. (2022) · Tissue and Cell · doi:10.1016/j.tice.2022.101781 · Cited by 18

Understanding the effects of per- and polyfluoroalkyl substances on early skin development: Role of ciliogenesis inhibition and altered microtubule dynamics

Zhao, M., Yin, N., Yang, R., Li, S., Zhang, S., & Faiola, F. (2023) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2023.169702 · Cited by 20

Emerging insights into CP110 removal during early steps of ciliogenesis

Xie, S., Naslavsky, N., & Caplan, S. (2024) · Journal of Cell Science · doi:10.1242/jcs.261579 · Cited by 19

Cilia-enriched oxysterol 7β,27-DHC is required for polycystin ion channel activation

Ha, K., Mundt, N., Bisignano, P., Pinedo, A., Raleigh, D. R., Loeb, G. B., Reiter, J. F., Cao, E., & Delling, M. (2024) · Nature Communications · doi:10.1038/s41467-024-50318-9 · Cited by 19

Sequence variant analysis of RNA sequences in severe equine asthma

Tessier, L., Côté, O., & Bienzle, D. (2018) · PeerJ · doi:10.7717/peerj.5759 · Cited by 18

FLS2 is a CDK-like kinase that directly binds IFT70 and is required for proper ciliary disassembly in Chlamydomonas

Zhao, Q., Li, S., Shao, S., Wang, Z., & Pan, J. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008561 · Cited by 19

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Harel, T., Griffin, J. N., Arbogast, T., Monroe, T. O., Palombo, F., Martinelli, M., Seri, M., Pippucci, T., Elpeleg, O. N., & Katsanis, N. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa073 · Cited by 18

Optimal sidestepping of intraflagellar transport kinesins regulates structure and function of sensory cilia

Xie, C., Li, L., Li, M., Shao, W., Zuo, Q., Huang, X., Chen, R., Li, W., Brunnbauer, M., Ökten, Z., et al. (2020) · The EMBO Journal · doi:10.15252/embj.2019103955 · Cited by 20

Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer

Shiromizu, T., Yuge, M., Kasahara, K., Yamakawa, D., Matsui, T., Bessho, Y., Inagaki, M., & Nishimura, Y. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21175962 · Cited by 18

Planar cell polarity induces local microtubule bundling for coordinated ciliary beating

Nakayama, S., Yano, T., Namba, T., Konishi, S., Takagishi, M., Herawati, E., Nishida, T., Imoto, Y., Ishihara, S., Takahashi, M., et al. (2021) · The Journal of Cell Biology · doi:10.1083/jcb.202010034 · Cited by 18

The molecular complex of ciliary and golgin protein is crucial for skull development

Yamaguchi, H., Meyer, M. D., Li, H., Senavirathna, L. K., Pan, S., & Komatsu, Y. (2021) · Development · doi:10.1242/dev.199559 · Cited by 18

CDC42 governs normal oviduct multiciliogenesis through activating AKT to ensure timely embryo transport

Jiang, R., Tang, X., Pan, J., Li, G., Yang, N., Tang, Y., Bi, S., Cai, H., Chen, Q., Chen, D., et al. (2022) · Cell Death and Disease · doi:10.1038/s41419-022-05184-y · Cited by 18

Robust acoustic trapping and perturbation of single-cell microswimmers illuminate three-dimensional swimming and ciliary coordination

Cui, M., Dutcher, S. K., Bayly, P. V., & Meacham, J. M. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2218951120 · Cited by 18

Rab23 and developmental disorders

Hor, C. H. H., Tang, B. L., & Goh, E. L. K. (2018) · Reviews in the Neurosciences · doi:10.1515/revneuro-2017-0110 · Cited by 19

Cilia function is associated with axon initial segment morphology

Wang, B., Hu, L., Sun, Z., & Zhang, Y. (2019) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2019.05.172 · Cited by 17

MiniBAR/GARRE1 is a dual Rac and Rab effector required for ciliogenesis

Serres, M. P., Shaughnessy, R., Escot, S., Hammich, H., Cuvelier, F., Salles, A., Rocancourt, M., Verdon, Q., Gaffuri, A.-L., Sourigues, Y., et al. (2023) · Developmental Cell · doi:10.1016/j.devcel.2023.09.010 · Cited by 18

Hedgehog pathway, cell cycle, and primary cilium

Zhuang, T. (2025) · Cell Death Discovery · doi:10.1038/s41420-025-02605-7 · Cited by 17

Male infertility

Dhikhirullahi, O., & Zhang, Z. (2025) · Systems Biology in Reproductive Medicine · doi:10.1080/19396368.2025.2548492 · Cited by 17

Pharmacological Regulation of Primary Cilium Formation Affects the Mechanosensitivity of Osteocytes

Ding, D., Yang, X. Y., Luan, H., Wu, X., He, C., Sun, L., & Fan, Y. (2020) · Calcified Tissue International · doi:10.1007/s00223-020-00756-6 · Cited by 17

GLIS1-3: Links to Primary Cilium, Reprogramming, Stem Cell Renewal, and Disease

Jetten, A. M., Scoville, D. W., & Kang, H. S. (2022) · Cells · doi:10.3390/cells11111833 · Cited by 17

Hedgehog Morphogens Act as Growth Factors Critical to Pre- and Postnatal Cardiac Development and Maturation: How Primary Cilia Mediate Their Signal Transduction

Fitzsimons, L. A., Brewer, V. L., & Tucker, K. L. (2022) · Cells · doi:10.3390/cells11121879 · Cited by 17

Recent Advances in Ciliate Biology

Howard-Till, R. A., Kar, U. P., Fabritius, A. S., & Winey, M. (2022) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-120420-020656 · Cited by 17

Repurposing small molecules for nephronophthisis and related renal ciliopathies

Benmerah, A., Briseño-Roa, L., Annereau, J., & Saunier, S. (2023) · Kidney International · doi:10.1016/j.kint.2023.04.027 · Cited by 17

Cilia and Extracellular Vesicles in Brain Development and Disease

Ma, R., Chen, L., Hu, N., Caplan, S., & Hu, G. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.11.004 · Cited by 17

A cell-autonomous role for primary cilium-mediated signaling in long-range commissural axon guidance

Dumoulin, A., Wilson, N. H., Tucker, K. L., & Stoeckli, E. T. (2024) · Development · doi:10.1242/dev.202788 · Cited by 21

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