Motile cilia and airway disease

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Randomization of Left–Right Asymmetry due to Loss of Nodal Cilia Generating Leftward Flow of Extraembryonic Fluid in Mice Lacking KIF3B Motor Protein

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A revised airway epithelial hierarchy includes CFTR-expressing ionocytes

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Single-Cell Transcriptomic Analysis of Human Lung Provides Insights into the Pathobiology of Pulmonary Fibrosis

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A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte

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Nomenclature for the description of human sequence variations

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A cellular census of human lungs identifies novel cell states in health and in asthma

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Reconstructions of centriole formation and ciliogenesis in mammalian lungs

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Mucociliary Clearance in the Airways

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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

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Foxj1 transcription factors are master regulators of the motile ciliogenic program

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A single-cell atlas of the human healthy airways

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The Cells of the Pulmonary Airways

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Notch-Dependent Differentiation of Adult Airway Basal Stem Cells

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Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia

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Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry.

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Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

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Muco-Obstructive Lung Diseases

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Notch signaling controls the balance of ciliated and secretory cell fates in developing airways

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

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Ciliogenesis and Left–Right Axis Defects in Forkhead Factor HFH-4–Null Mice

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Switching on cilia: transcriptional networks regulating ciliogenesis

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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

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Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Castleman, V., Romio, L., Chodhari, R., Hirst, R. A., de Castro, S. C., Parker, K. A., Ybot‐González, P., Emes, R. D., Wilson, S. W., Wallis, C., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.011 · Cited by 356 · see citing works

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Becker-Heck, A., Zohn, I. E., Okabe, N., Pollock, A., Lenhart, K. B., Sullivan-Brown, J., McSheene, J. C., Loges, N. T., Olbrich, H., Häeffner, K., et al. (2010) · Nature Genetics · doi:10.1038/ng.727 · Cited by 335 · see citing works

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

Chilvers, M. A. (2003) · Journal of Allergy and Clinical Immunology · doi:10.1016/s0091-6749(03)01799-8 · Cited by 325 · see citing works

Multiciliated Cells

Brooks, E., & Wallingford, J. B. (2014) · Current Biology · doi:10.1016/j.cub.2014.08.047 · Cited by 314 · see citing works

Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia

Fliegauf, M., Olbrich, H., Horvath, J. E., Wildhaber, J. H., Zariwala, M. A., Kennedy, M. P., Knowles, M. R., & Omran, H. (2005) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200411-1583oc · Cited by 306 · see citing works

Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway

Marcet, B., Chevalier, B., Luxardi, G., Coraux, C., Zaragosi, L., Cibois, M., Robbe-Sermesant, K., Jolly, T., Cardinaud, B., Moreilhon, C., et al. (2011) · Nature Cell Biology · doi:10.1038/ncb2241 · Cited by 298 · see citing works

Novel dynamics of human mucociliary differentiation revealed by single-cell RNA sequencing of nasal epithelial cultures

Ruiz García, S., Deprez, M., Lebrigand, K., Cavard, A., Paquet, A., Arguel, M.-J., Magnone, V., Truchi, M., Caballero, I., Leroy, S., et al. (2019) · Development · doi:10.1242/dev.177428 · Cited by 297 · see citing works

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Olbrich, H., Schmidts, M., Werner, C., Onoufriadis, A., Loges, N. T., Raidt, J., Bánki, N. F., Shoemark, A., Burgoyne, T., Turki, S. H. A., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.016 · Cited by 296 · 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

Structure of the Decorated Ciliary Doublet Microtubule

Ma, M., Stoyanova, M., Rademacher, G., Dutcher, S. K., Brown, A., & Zhang, R. (2019) · Cell · doi:10.1016/j.cell.2019.09.030 · Cited by 290 · see citing works

Number and Proliferation of Basal and Parabasal Cells in Normal Human Airway Epithelium

Boers, J. E., Ambergen, A. W., & Thunnissen, E. (1998) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.157.6.9707011 · Cited by 287 · 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

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

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

Moore, A. T., Escudier, E. F., Roger, G., Tamalet, A., Pelosse, B., Marlin, S., Clément, A., Geremek, M., Delaisi, B., Bridoux, A.-M., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.034868 · Cited by 268 · see citing works

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Loges, N. T., Olbrich, H., Fenske, L., Mussaffi, H., Horvath, J. E., Fliegauf, M., Kuhl, H., Baktai, G., Péterffy, E., Chodhari, R., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.10.001 · Cited by 265 · 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

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Sironen, A. I., Shoemark, A., Patel, M., Loebinger, M. R., & Mitchison, H. M. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-019-03389-7 · Cited by 256 · see citing works

Diagnosis and management of primary ciliary dyskinesia

Lucas, J. S., Burgess, A. E., Mitchison, H. M., Moya, E., Williamson, M., Hogg, C. L., & on behalf of the National PCD Service, U. (2014) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-304831 · Cited by 254 · see citing works

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Panizzi, J. R., Becker-Heck, A., Castleman, V., Al-Mutairi, D. A., Liu, Y., Loges, N. T., Pathak, N. H., Austin-Tse, C. A., Sheridan, E. G., Schmidts, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2277 · Cited by 249 · see citing works

Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation

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Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

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Canonical Notch signaling in the developing lung is required for determination of arterial smooth muscle cells and selection of Clara versus ciliated cell fate

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Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Knowles, M. R., Ostrowski, L. E., Leigh, M. W., Sears, P. R., Davis, S. D., Wolf, W., Hazucha, M. J., Carson, J. L., Olivier, K. N., Sagel, S. D., et al. (2014) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201311-2047oc · Cited by 234 · see citing works

Therapeutic antibodies reveal Notch control of transdifferentiation in the adult lung

Lafkas, D., Shelton, A., Chiu, C., Boenig, G. D. L., Chen, Y., Stawicki, S. S., Siltanen, C. A., Reichelt, M., Zhou, M., Wu, X., et al. (2015) · Nature · doi:10.1038/nature15715 · Cited by 233 · see citing works

Human lung development: recent progress and new challenges

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Dissecting the cellular specificity of smoking effects and reconstructing lineages in the human airway epithelium

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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

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Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Loges, N. T., Olbrich, H., Becker-Heck, A., Häffner, K., Heer, A., Reinhard, C., Schmidts, M., Kispert, A., Zariwala, M. A., Leigh, M. W., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.018 · Cited by 214 · see citing works

The innate immune system in cystic fibrosis lung disease

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The Cep63 paralogue Deup1 enables massive de novo centriole biogenesis for vertebrate multiciliogenesis

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

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Airway Gland Structure and Function

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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Austin-Tse, C. A., Halbritter, J., Zariwala, M. A., Gilberti, R. M., Gee, H. Y., Hellman, N. E., Pathak, N. H., Liu, Y., Panizzi, J. R., Patel, R., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.015 · Cited by 203 · see citing works

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

Duriez, B., Duquesnoy, P., Escudier, E. F., Bridoux, A.-M., Escalier, D., Rayet, I., Marcos, É., Vojtek, A.-M., Bercher, J., & Amselem, S. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0611405104 · Cited by 198 · see citing works

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Zariwala, M. A., Gee, H. Y., Kurkowiak, M., Al-Mutairi, D. A., Leigh, M. W., Hurd, T. W., Hjeij, R., Dell, S., Chaki, M., Dougherty, G. W., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.007 · Cited by 198 · see citing works

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Onoufriadis, A., Paff, T., Antony, D., Shoemark, A., Micha, D., Kuyt, B., Schmidts, M., Petridi, S., Dankert-Roelse, J. E., Haarman, E. G., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.11.002 · Cited by 195 · see citing works

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Whitfield, M., Thomas, L., Béquignon, É., Schmitt, A., Stouvenel, L., Montantin, G., Tissier, S., Duquesnoy, P., Copin, B., Chantot‐Bastaraud, S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.04.015 · Cited by 195 · see citing works

Clonal Dynamics Reveal Two Distinct Populations of Basal Cells in Slow-Turnover Airway Epithelium

Watson, J. K., Rulands, S., Wilkinson, A. C., Wuidart, A., Ousset, M., Keymeulen, A. V., Göttgens, B., Blanpain, C., Simons, B. D., & Rawlins, E. L. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.06.011 · Cited by 194 · see citing works

Parent stem cells can serve as niches for their daughter cells

Pardo–Saganta, A., Tata, P. R., Law, B. M., Sáez, B., Chow, R. D.-W., Prabhu, M., Gridley, T., & Rajagopal, J. (2015) · Nature · doi:10.1038/nature14553 · Cited by 194 · see citing works

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindrić, S., Olbrich, H., Loges, N., Aprea, I., Dougherty, G., Pennekamp, P., et al. (2019) · American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.09.022 · Cited by 194 · see citing works

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

Davis, S. D., Rosenfeld, M., Lee, H., Ferkol, T. W., Sagel, S. D., Dell, S., Milla, C. E., Pittman, J. E., Shapiro, A. J., Sullivan, K. M., et al. (2018) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201803-0548oc · Cited by 193 · see citing works

Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Antony, D., Becker-Heck, A., Zariwala, M. A., Schmidts, M., Onoufriadis, A., Forouhan, M., Wilson, R., Taylor-Cox, T., Dewar, A. L., Jackson, C. L., et al. (2012) · Human Mutation · doi:10.1002/humu.22261 · Cited by 191 · see citing works

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wiśniewska, M., Jensen, L. R., Raynaud, M., Shoichet, S. A., Badura‐Stronka, M., et al. (2006) · Human Genetics · doi:10.1007/s00439-006-0210-5 · Cited by 189 · see citing works

mir-34b/c and mir-449a/b/c are required for spermatogenesis, but not for the first cleavage division in mice

Yuan, S., Tang, C., Zhang, Y., Wu, J., Bao, J., Zheng, H., Xu, C., & Yan, W. (2015) · Biology Open · doi:10.1242/bio.201410959 · Cited by 188 · see citing works

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

Liu, C., Miyata, H., Gao, Y., Sha, Y., Tang, S., Xu, Z., Whitfield, M., Patrat, C., Wu, H., Dulioust, E., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.004 · Cited by 185 · see citing works

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Kott, E., Duquesnoy, P., Copin, B., Legendre, M., Moal, F., Montantin, G., Jeanson, L., Tamalet, A., Papon, J., Siffroi, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.003 · Cited by 183 · see citing works

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Kott, E., Legendre, M., Copin, B., Papon, J., Moal, F., Montantin, G., Duquesnoy, P., Piterboth, W., Amram, D., Bassinet, L., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.013 · Cited by 176 · see citing works

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

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Zebrafish Motile Cilia as a Model for Primary Ciliary Dyskinesia

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Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis

Xu, Y., Feng, G., Yano, T., Masuda, S., Nagao, M., Gotoh, S., Ikejiri, M., Tanabe, M., & Takeuchi, K. (2023) · Journal of Human Genetics · doi:10.1038/s10038-023-01142-4 · Cited by 13 · see citing works

Structure and Function of Dynein’s Non-Catalytic Subunits

Rao, L., & Gennerich, A. (2024) · Cells · doi:10.3390/cells13040330 · Cited by 13 · see citing works

Primary cilia as mechanosensors in musculoskeletal homeostasis and disease

Ti, H., Zhang, Z., Yan, X., Hu, H., Zhang, K., Shi, S., Wu, J., Nie, H., Yuan, Z., Chen, Y., et al. (2025) · Pharmacological Research · doi:10.1016/j.phrs.2025.107887 · Cited by 12 · see citing works

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 · see citing works

An amino acid-resolution interactome for motile cilia identifies the structure and function of ciliopathy protein complexes

McCafferty, C. L., Papoulas, O., Lee, C., Bui, K. H., Taylor, D. W., Marcotte, E. M., & Wallingford, J. B. (2024) · Developmental Cell · doi:10.1016/j.devcel.2024.11.019 · Cited by 12 · see citing works

Thermal analysis using Prandtl nanofluid in a non-uniform channel: Computational paradigm focusing on complex cilia waves

AlMheidat, M. N., Alqudah, M., Imran, A., Allehiany, F. M., Alqarni, M. M., Alqurashi, M. S., & Mahmoud, E. E. (2025) · Case Studies in Thermal Engineering · doi:10.1016/j.csite.2025.105872 · Cited by 12 · see citing works

Identification of GOLPH3 Partners in Drosophila Unveils Potential Novel Roles in Tumorigenesis and Neural Disorders

Sechi, S., Karimpour-Ghahnavieh, A., Frappaolo, A., Francesco, L. D., Piergentili, R., Schininà, E., D’Avino, P. P., & Giansanti, M. G. (2021) · Cells · doi:10.3390/cells10092336 · Cited by 12 · see citing works

Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan

Keicho, N., Hijikata, M., Miyabayashi, A., Wakabayashi, K., Yamada, H., Ito, M., & Morimoto, K. (2023) · Respiratory Investigation · doi:10.1016/j.resinv.2023.12.005 · Cited by 12 · see citing works

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused byIFT74mutations

Fassad, M. R., Rumman, N., Junger, K., Patel, M., Thompson, J., Goggin, P., Ueffing, M., Beyer, T., Boldt, K., Lucas, J. S., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad132 · Cited by 12 · see citing works

CFTR expression decreases with age in several airway cell types

Corcoran, T. E., Broerman, M. J., Kliment, C. R., & Lo, C. W. Y. (2024) · Scientific Reports · doi:10.1038/s41598-024-80108-8 · Cited by 11 · see citing works

SARS-CoV-2 particles promote airway epithelial differentiation and ciliation

Gonzalez‐Rubio, J., Le‐Trilling, V. T. K., Baumann, L., Cheremkhina, M., Kubiza, H., Luengen, A. E., Reuter, S., Taube, C., Ruetten, S., Campos, D. F. D., et al. (2023) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2023.1268782 · Cited by 10 · see citing works

LRRC56 is an IFT cargo required for assembly of the distal dynein docking complex in Trypanosoma brucei

Bonnefoy, S., Alves, A. A., Bertiaux, E., & Bastin, P. (2024) · Molecular Biology of the Cell · doi:10.1091/mbc.e23-11-0425 · Cited by 10 · see citing works

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 · see citing works

LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus

Kim, D. Y., Sub, Y., Kim, H., Cho, K. J., Choi, W., Choi, Y. J., Lee, M. G., Hildebrandt, F., & Gee, H. Y. (2023) · Cell Communication and Signaling · doi:10.1186/s12964-023-01135-y · Cited by 10 · see citing works

Opposing transcription factors MYCL and HEY1 mediate the Notch-dependent airway stem cell fate decisionPreprint

Byrnes, L. E., Deleon, R., Reiter, J. F., & Choksi, S. P. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.05.511009 · Cited by 10 · see citing works

EFCAB10 anchors AK8 to the radial spoke for proper ciliary motility

Song, T., Li, Q., Lyu, Q., Zhao, J., Zi, X., Ma, S., Luo, J., Li, S., Nai, S., Liu, H., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2510243122 · Cited by 12 · see citing works

Temporal Stability of Ciliary Beating Post Nasal Brushing, Modulated by Storage Temperature

Bricmont, N., Bonhiver, R., Benchimol, L., Louis, B., Papon, J., Monseur, J. J., Donneau, A., Moermans, C., Schleich, F., Calmès, D., et al. (2023) · Diagnostics · doi:10.3390/diagnostics13182974 · Cited by 9 · see citing works

From tip to toe – dressing centrioles in γTuRC

Schweizer, N., & Lüders, J. (2021) · Journal of Cell Science · doi:10.1242/jcs.258397 · Cited by 9 · see citing works

Key gene network related to primary ciliary dyskinesia in hippocampus of patients with Alzheimer’s disease revealed by weighted gene co-expression network analysis

Xia, P., Chen, J., Bai, X., Li, M., Wang, L., & Lu, Z. (2022) · BMC Neurology · doi:10.1186/s12883-022-02724-z · Cited by 8 · see citing works

Developmental and tissue‐specific roles of mammalian centrosomes

Meyer‐Gerards, C., & Bazzi, H. (2024) · FEBS Journal · doi:10.1111/febs.17212 · Cited by 8 · see citing works

Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients

Mabrouk, I., Al-Harthi, N., Mani, R., Montantin, G., Tissier, S., Lagha, R., Abdallah, F. B., Hassan, M. M., Alhomrani, M., Gaber, A., et al. (2022) · Journal of Human Genetics · doi:10.1038/s10038-021-01006-9 · Cited by 8 · see citing works

Sputum from patients with primary ciliary dyskinesia contains high numbers of dysfunctional neutrophils and inhibits efferocytosis

Blanter, M., Cockx, M., Wittebols, L., Salama, S. A., Bondt, M. D., Berghmans, N., Pörtner, N., Vanbrabant, L., Lorent, N., Gouwy, M., et al. (2022) · Respiratory Research · doi:10.1186/s12931-022-02280-7 · Cited by 8 · see citing works

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 · see citing works

Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathyPreprint

Brody, S. L., Pan, J., Huang, T., Xu, J., Xu, H., Koenitizer, J., Brennan, S. K., Nanjundappa, R., Saba, T. G., Berical, A. C., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.20.585965 · Cited by 8 · see citing works

Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan

Hijikata, M., Morimoto, K., Ito, M., Wakabayashi, K., Miyabayashi, A., Yamada, H., & Keicho, N. (2024) · Clinical Genetics · doi:10.1111/cge.14640 · Cited by 7 · see citing works

Cilia dynamics create a dynamic barrier to penetration of the periciliary layer in human airway epithelia

Causa, E., Das, D., Feriani, L., Kotar, J., & Cicuta, P. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2419032122 · Cited by 7 · see citing works

Lipid nanoparticle-encapsulated Dnai1 mRNA rescues ciliary activity in primary ciliary dyskinesia mouse cell models

Smith, A. J., Sears, P. R., Hennig, M., Bhattacharjee, R. B., Yin, W., Golliher, H. L., Ishimaru, D., Lombana, T. N., Lockhart, D. J., Wustman, B. A., et al. (2025) · Journal of Cell Science · doi:10.1242/jcs.264068 · Cited by 7 · see citing works

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 7 · see citing works

Identification of TEKTIN1‐expressing multiciliated cells during spontaneous differentiation of non‐human primate embryonic stem cells

Nishie, T., Ohta, Y., Shirai, E., Higaki, S., Shimozawa, N., Narita, K., Kawaguchi, K., Tanaka, H., Mori, C., Tanaka, T., et al. (2023) · Genes to Cells · doi:10.1111/gtc.13031 · Cited by 7 · see citing works

Primary ciliary dyskinesia

Pennekamp, P., Raidt, J., Wohlgemuth, K., Olbrich, H., & Omran, H. (2023) · European Respiratory Society eBooks · doi:10.1183/2312508x.10017922 · Cited by 7 · see citing works

An Amino Acid-Resolution Interactome for Motile Cilia Illuminates the Structure and Function of Ciliopathy Protein ComplexesPreprint

McCafferty, C. L., Papoulas, O., Lee, C., Bui, K. H., Taylor, D. W., Marcotte, E. M., & Wallingford, J. B. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.09.548259 · Cited by 7 · see citing works

Kinesin family member 3A induces related diseases via wingless-related integration site/β-catenin signaling pathway

Liu, S., He, Y., Li, S., Gao, X., & Yang, F. (2023) · Science Progress · doi:10.1177/00368504221148340 · Cited by 6 · see citing works

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia

Thomas, L., Cuisset, L., Papon, J., Tamalet, A., Pin, I., Taam, R. A., Faucon, C., Montantin, G., Tissier, S., Duquesnoy, P., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2023-109700 · Cited by 6 · see citing works

Single-cell resolution of human airway epithelial cells exposed to bronchiolitis obliterans-associated chemicals

Chu, C., Kim, S.-Y., Pryhuber, G., Mariani, T. J., & McGraw, M. (2023) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00304.2023 · Cited by 5 · see citing works

Impact of Common Environmental Exposures on Airway Cilia Biology: Insights into Structure, Function, and Signaling Mechanisms

Feng, Z., Chen, S.-Y., Ye, Q., Jiang, S., Chen, Z., Zhou, M., Chen, Z., Wang, L., & Peng, Y. (2025) · International Archives of Allergy and Immunology · doi:10.1159/000546009 · Cited by 6 · see citing works

The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis

Pifferi, M., Boner, A. L., Cangiotti, A. M., Cudazzo, A., Maj, D., Gracci, S., Michelucci, A., Bertini, V., Piazza, M., Valetto, A., et al. (2024) · Pediatric Pulmonology · doi:10.1002/ppul.26842 · Cited by 5 · see citing works

Dual-color live imaging unveils stepwise organization of multiple basal body arrays by cytoskeletons

Shiratsuchi, G., Konishi, S., Yano, T., Yanagihashi, Y., Nakayama, S., Katsuno, T., Kashihara, H., Tanaka, H., Tsukita, K., Suzuki, K., et al. (2024) · EMBO Reports · doi:10.1038/s44319-024-00066-0 · Cited by 5 · see citing works

Improvement of mechanical properties and oxidation resistance of wood ceramics and their use for PM2.5 filtration

Guo, X., Zhang, W., Jia, M., Hao, Z., & Du, D. (2025) · Ceramics International · doi:10.1016/j.ceramint.2025.02.046 · Cited by 5 · see citing works

Landmark contributions of Chlamydomonas to understanding cilia

Sale, W. S., & Dutcher, S. K. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-822508-0.00014-9 · Cited by 4 · see citing works

An ex vivo rat trachea model reveals abnormal airway physiology and a gland secretion defect in cystic fibrosis

Harris, E. S., Easter, M., Ren, J. Q., Krick, S., Barnes, J. W., & Rowe, S. M. (2023) · PLoS ONE · doi:10.1371/journal.pone.0293367 · Cited by 5 · see citing works

A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea

Hashizume, R., Xu, Y., Ikejiri, M., Gotoh, S., & Takeuchi, K. (2024) · Journal of Human Genetics · doi:10.1038/s10038-024-01289-8 · Cited by 4 · see citing works

Characterisation of a primary ciliary dyskinesia model generated from BMI1 -transduced basal epithelial cells

Dalbay, M. T., Shahaj, E., Guerrini, I., Lee, D. D. H., Straatman-Iwanowska, A. A., Mitchison, H. M., Baines, D. L., Hirst, R. A., Hogg, C. L., O’Callaghan, C., et al. (2025) · Journal of Cell Science · doi:10.1242/jcs.263886 · Cited by 4 · see citing works

Mutations in CCNO Result in Primary Ciliary Dyskinesia Complicated with Diffuse Bronchiolitis

Wang, L., Gao, L., Liu, X., & Xu, B. (2023) · The Indian Journal of Pediatrics · doi:10.1007/s12098-023-04543-7 · Cited by 4 · see citing works

A fixed 20:1 combination of cafedrine/theodrenaline increases cytosolic Ca2+ concentration in human tracheal epithelial cells via ryanodine receptor-mediated Ca2+ release

Schmidt, G., Rienas, G., Müller, S., Richter, K., Sander, M., Koch, C., & Henrich, M. (2023) · Scientific Reports · doi:10.1038/s41598-023-43342-0 · Cited by 4 · see citing works

Regulation of the Cilia as a Potential Treatment for Senescence and Tumors: A Review

Zhu, D., Pan, Y., Yang, Y., & Wang, S. (2024) · Journal of Cellular Physiology · doi:10.1002/jcp.31499 · Cited by 4 · see citing works

Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia

Petrarca, L., Guida, V., Nenna, R., Luca, A. D., Goldoni, M., Bernardini, L., Conti, M. G., Cimino, G. G., Mancino, E., Masuelli, L., et al. (2025) · Pediatric Pulmonology · doi:10.1002/ppul.71057 · Cited by 4 · see citing works

Centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium

Sheridan, J., Grata, A., Dorr, J., Suva, E. E., Bresteau, E., Mitchell, L. R., Hassan, O., & Mitchell, B. (2023) · Developmental Biology · doi:10.1016/j.ydbio.2025.05.011 · Cited by 4 · see citing works

Silica Nanoparticles Inhibit Responses to ATP in Human Airway Epithelial 16HBE Cells

Milici, A., Sanchez, A., & Talavera, K. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221810173 · Cited by 4 · see citing works

Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting

Birkhead, M., Otido, S., Mabaso, T., Mopeli, K., Tlhapi, D., Verwey, C., & Dangor, Z. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1247638 · Cited by 4 · see citing works

Functional unknomics: closing the knowledge gap to accelerate biomedical researchPreprint

Rocha, J., Jayaram, S. A., Stevens, T. J., Muschalik, N., Shah, R. D., Emran, S., Robles, C., Freeman, M., & Munro, S. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.28.497983 · Cited by 4 · see citing works

The New Nexin‐Dynein Regulatory Complex Component CCDC153 Is Dispensable for Ciliary Motility and Fertility in Mice

Nai, S., Zheng, Y., Liu, X., & Zhao, H. (2025) · Cytoskeleton · doi:10.1002/cm.70053 · Cited by 3 · see citing works

The MIR34B/C genomic region contains multiple potential regulators of multiciliogenesis

Cavard, A., Redman, E., Mercey, O., Abélanet, S., Plaisant, M., Arguel, M., Magnone, V., García, S. R., Rios, G., Deprez, M., et al. (2023) · FEBS Letters · doi:10.1002/1873-3468.14630 · Cited by 3 · see citing works

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

Baz-Redón, N., Sánchez-Bellver, L., Fernández‐Cancio, M., Rovira‐Amigo, S., Burgoyne, T., Rai, R., Aquino, V., Toro-Barrios, N., Carmona, R., Polverino, E., et al. (2024) · Cells · doi:10.3390/cells13060524 · Cited by 3 · see citing works

The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multiciliated cells

Earwood, R., Ninomiya, H., Wang, H., Shimada, I. S., Stroud, M., Pérez, D. L. G., Uuganbayar, U., Yamada, C., Akiyama-Miyoshi, T., Stefanovic, B., et al. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107373 · Cited by 3 · see citing works

Not all are the same: the power of registries in defining genotype–phenotype relationships in primary ciliary dyskinesia

Horani, A., & Mill, P. (2024) · European Respiratory Journal · doi:10.1183/13993003.01026-2024 · Cited by 3 · see citing works

Genetic Regulation of Cilia Assembly and the Relationship to Human Disease

Brody, S. L. (2004) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2004-0004ps · Cited by 17 · see citing works

Molecular Genetics of Primary Ciliary Dyskinesia

Horani, A., & Ferkol, T. W. (2013) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024989 · Cited by 2 · see citing works

Picking up speed: advances in the genetics of primary ciliary dyskinesia

Horani, A., Brody, S. L., & Ferkol, T. W. (2013) · Pediatric Research · doi:10.1038/pr.2013.200 · Cited by 64 · see citing works

Primary ciliary dyskinesia in pediatric persons: A microscopic movement malady

Greydanus, D. E., Bhave, S., Ashok, N., & Goel, A. (2026) · Disease-a-Month · doi:10.1016/j.disamonth.2026.102144

Dynein Dysfunction as a Cause of Primary Ciliary Dyskinesia and Other Ciliopathies

Becker-Heck, A., Loges, N. T., & Omran, H. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-382004-4.10024-x · Cited by 11 · see citing works